Publications by authors named "Enza Maria Valente"

100Publications

Visual Evoked Potentials in Joubert Syndrome: A Suggested Useful Method for Evaluating Future Approaches Targeted to Improve Visual Pathways' Function.

Adv Ther 2020 Oct 24. Epub 2020 Oct 24.

Department of Surgical and Clinical, Diagnostic and Pediatric Sciences, Section of Ophthalmology, University of Pavia, IRCCS Fondazione Policlinico San Matteo, Pavia, Italy.

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http://dx.doi.org/10.1007/s12325-020-01534-4DOI Listing
October 2020

Generation of induced pluripotent stem cell (iPSC) lines from a Joubert syndrome patient with compound heterozygous mutations in C5orf42 gene.

Stem Cell Res 2020 Sep 22;49:102007. Epub 2020 Sep 22.

Angelo Nocivelli Institute for Molecular Medicine, Department of Molecular and Translational Medicine, University of Brescia, Italy.

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http://dx.doi.org/10.1016/j.scr.2020.102007DOI Listing
September 2020

Alazami syndrome: Phenotypic expansion and clinical resemblance to Smith-Lemli-Opitz syndrome.

Am J Med Genet A 2020 11 5;182(11):2722-2726. Epub 2020 Sep 5.

Medical Genetics Unit, IRCCS Mondino Foundation, Pavia, Italy.

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http://dx.doi.org/10.1002/ajmg.a.61832DOI Listing
November 2020

KCTD17-related myoclonus-dystonia syndrome: clinical and electrophysiological findings of a patient with atypical late onset.

Parkinsonism Relat Disord 2020 Sep 6;78:129-133. Epub 2020 Aug 6.

Clinical Neurophysiology Unit, IRCCS Mondino Foundation, Pavia, Italy.

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http://dx.doi.org/10.1016/j.parkreldis.2020.07.026DOI Listing
September 2020

Electroretinographic Assessment in Joubert Syndrome: A Suggested Objective Method to Evaluate the Effectiveness of Future Targeted Treatment.

Adv Ther 2020 09 15;37(9):3827-3838. Epub 2020 Jul 15.

Department of Surgical and Clinical, Diagnostic and Pediatric Sciences, Section of Ophthalmology, IRCCS Fondazione Policlinico San Matteo, University of Pavia, Pavia, Italy.

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http://dx.doi.org/10.1007/s12325-020-01432-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7444391PMC
September 2020

Mechanisms of neurodegeneration in Parkinson's disease: keep neurons in the PINK1.

Mech Ageing Dev 2020 07 3;189:111277. Epub 2020 Jun 3.

Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Belvaux, Luxembourg. Electronic address:

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http://dx.doi.org/10.1016/j.mad.2020.111277DOI Listing
July 2020

Clinical and Molecular Characterization of a Novel Progranulin Deletion Associated with Different Phenotypes.

J Alzheimers Dis 2020 ;76(1):341-347

Center for Neurodegenerative Diseases (CEMAND); Department of Medicine, Surgery and Dentistry, Neuroscience Section, University of Salerno, Italy.

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http://dx.doi.org/10.3233/JAD-200151DOI Listing
January 2020

PINK1 and Parkin: The odd couple.

Neurosci Res 2020 May 15. Epub 2020 May 15.

IRCCS Mondino Foundation, Pavia, Italy; Department of Molecular Medicine, University of Pavia, Pavia, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.neures.2020.04.007DOI Listing
May 2020

Movement Disorders in Genetic Pediatric Ataxias.

Mov Disord Clin Pract 2020 May 6;7(4):383-393. Epub 2020 Apr 6.

IRCCS Mondino Foundation Pavia Italy.

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http://dx.doi.org/10.1002/mdc3.12937DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7197308PMC
May 2020

Age and sex prevalence estimate of Joubert syndrome in Italy.

Neurology 2020 02 22;94(8):e797-e801. Epub 2020 Jan 22.

From the Neurogenetics Unit (S.N., M.G., E.M.V.), IRCCS Fondazione Santa Lucia, Rome; Department of Medicine and Surgery (S.N.), University of Salerno; National Center for Disease Prevention and Health Promotion (I.B., N.V.), National Institute of Health, Rome; Department of Molecular Medicine (M.G., A.C., V.S., E.M.V.), University of Pavia; IRCCS Stella Maris Foundation (R. Battini); Department of Clinical and Experimental Medicine (R. Battini), University of Pisa; Laboratory of Molecular Medicine (E.B., M.N., G.Z.), Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, and Laboratory of Medical Genetics (A.M.), IRCCS Bambino Gesù Children's Hospital, Rome; and Neuropsychiatry and Neurorehabilitation Unit (R. Borgatti, R.R.), Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy.

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http://dx.doi.org/10.1212/WNL.0000000000008996DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7136056PMC
February 2020

Development of SaraHome: A novel, well-accepted, technology-based assessment tool for patients with ataxia.

Comput Methods Programs Biomed 2020 May 2;188:105257. Epub 2019 Dec 2.

MARlab, Neuroscience and Neurorehabilitation Department, Bambino Gesù Children's Hospital - IRCCS, Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.cmpb.2019.105257DOI Listing
May 2020

Generation of the human induced pluripotent stem cell (hiPSC) line PSMi006-A from a patient affected by an autosomal recessive form of long QT syndrome type 1.

Stem Cell Res 2020 01 20;42:101658. Epub 2019 Nov 20.

Coronary Care Unit and Laboratory of Experimental Cardiology for Cell and Molecular Therapy, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy; Department of Molecular Medicine, Unit of Cardiology, Università degli studi di Pavia, Pavia, Italy; Department of Medicine, University of Cape Town, Cape Town, South Africa. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2019.101658DOI Listing
January 2020

A novel IRF2BPL truncating variant is associated with endolysosomal storage.

Mol Biol Rep 2020 Jan 3;47(1):711-714. Epub 2019 Oct 3.

Department of Molecular Medicine, University of Pavia, via Forlanini 14, 27100, Pavia, Italy.

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http://dx.doi.org/10.1007/s11033-019-05109-7DOI Listing
January 2020

Atypical Childhood-onset Neuroaxonal Dystrophy in an Indian Girl.

J Pediatr Neurosci 2019 Apr-Jun;14(2):90-93

Division of Pediatric Neurology, Department of Pediatrics, Lady Harding Medical College, New Delhi, India.

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http://dx.doi.org/10.4103/jpn.JPN_91_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6712922PMC
September 2019

Twenty years on: Myoclonus-dystonia and ε-sarcoglycan - neurodevelopment, channel, and signaling dysfunction.

Mov Disord 2019 11 26;34(11):1588-1601. Epub 2019 Aug 26.

Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.

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http://dx.doi.org/10.1002/mds.27822DOI Listing
November 2019

Generation of two human induced pluripotent stem cell (hiPSC) lines from a long QT syndrome South African founder population.

Stem Cell Res 2019 08 24;39:101510. Epub 2019 Jul 24.

Coronary Care Unit and Laboratory of Experimental Cardiology for Cell and Molecular Therapy, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy; Department of Molecular Medicine, Unit of Cardiology, Università degli studi di Pavia, Pavia, Italy; Department of Medicine, University of Cape Town, Cape Town, South Africa. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2019.101510DOI Listing
August 2019

Production and characterization of human induced pluripotent stem cells (iPSC) CSSi007-A (4383) from Joubert Syndrome.

Stem Cell Res 2019 07 5;38:101480. Epub 2019 Jun 5.

Fondazione IRCCS Casa Sollievo della Sofferenza, Cellular Reprogramming Unit, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2019.101480DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6617992PMC
July 2019

Prenatal findings in oral-facial-digital syndrome type VI: Report of three cases and literature review.

Prenat Diagn 2019 07 2;39(8):652-655. Epub 2019 Jul 2.

Prenatal Diagnosis Unit, Department of Obstetrics and Gynecology, ASST Spedali Civili, Brescia, Italy.

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http://dx.doi.org/10.1002/pd.5494DOI Listing
July 2019

Generation of the human induced pluripotent stem cell (hiPSC) line PSMi005-A from a patient carrying the KCNQ1-R190W mutation.

Stem Cell Res 2019 05 13;37:101437. Epub 2019 Apr 13.

Coronary Care Unit, Laboratory of Experimental Cardiology for Cell and Molecular Therapy, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy; Department of Molecular Medicine, Unit of Cardiology, Università degli studi di Pavia, Pavia, Italy; Department of Medicine, University of Cape Town, Cape Town, South Africa. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S18735061193006
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http://dx.doi.org/10.1016/j.scr.2019.101437DOI Listing
May 2019

Generation of the human induced pluripotent stem cell (hiPSC) line PSMi004-A from a carrier of the KCNQ1-R594Q mutation.

Stem Cell Res 2019 05 27;37:101431. Epub 2019 Mar 27.

Coronary Care Unit, Laboratory of Experimental Cardiology for Cell and Molecular Therapy, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy; Department of Molecular Medicine, Unit of Cardiology, Università degli Studi di Pavia, Pavia, Italy; Department of Medicine, University of Cape Town, Cape Town, South Africa. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S18735061193006
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http://dx.doi.org/10.1016/j.scr.2019.101431DOI Listing
May 2019

Generation of the human induced pluripotent stem cell (hiPSC) line PSMi007-A from a Long QT Syndrome type 1 patient carrier of two common variants in the NOS1AP gene.

Stem Cell Res 2019 04 6;36:101416. Epub 2019 Mar 6.

Coronary Care Unit and Laboratory of Experimental Cardiology for Cell and Molecular Therapy, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.; Department of Molecular Medicine, Unit of Cardiology, Università degli studi di Pavia, Pavia, Italy.; Department of Medicine, University of Cape Town, Cape Town, South Africa. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2019.101416DOI Listing
April 2019

LRP10: A novel disease gene bridging Parkinson's disease and dementia with Lewy body.

Mov Disord 2019 01 30;34(1):47. Epub 2018 Dec 30.

Department of Molecular Medicine, University of Pavia, Pavia, Italy.

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http://dx.doi.org/10.1002/mds.27593DOI Listing
January 2019

Author Correction: Dystonia.

Nat Rev Dis Primers 2018 Oct 19;4(1):37. Epub 2018 Oct 19.

Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, UCL, London, UK.

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http://www.nature.com/articles/s41572-018-0039-y
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http://dx.doi.org/10.1038/s41572-018-0039-yDOI Listing
October 2018

Dystonia.

Nat Rev Dis Primers 2018 09 20;4(1):25. Epub 2018 Sep 20.

Sobell Department of Motor Neuroscience and Movement Disorders,, UCL Institute of Neurology, UCL, London, UK.

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http://www.nature.com/articles/s41572-018-0023-6
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http://dx.doi.org/10.1038/s41572-018-0023-6DOI Listing
September 2018

The spectrum of brainstem malformations associated to mutations of the tubulin genes family: MRI and DTI analysis.

Eur Radiol 2019 Feb 31;29(2):770-782. Epub 2018 Jul 31.

Neuropsychiatry and Neurorehabilitation Unit, Scientific Institute, IRCCS E. Medea, Bosisio Parini, Lecco, Italy.

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http://dx.doi.org/10.1007/s00330-018-5610-0DOI Listing
February 2019

Genetics of cerebellar disorders.

Handb Clin Neurol 2018 ;154:267-286

Department of Pediatrics, University of Washington and Seattle Children's Research Institute, Seattle, WA, United States.

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http://dx.doi.org/10.1016/B978-0-444-63956-1.00016-3DOI Listing
September 2018

Between SCA5 and SCAR14: delineation of the SPTBN2 p.R480W-associated phenotype.

Eur J Hum Genet 2018 07 25;26(7):928-929. Epub 2018 May 25.

Neurogenetics Unit, IRCCS Santa Lucia Foundation, Rome, Italy.

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http://dx.doi.org/10.1038/s41431-018-0158-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6018709PMC
July 2018

Generation of the human induced pluripotent stem cell (hiPSC) line PSMi003-A from a patient affected by an autosomal recessive form of Long QT Syndrome type 1.

Stem Cell Res 2018 05 6;29:170-173. Epub 2018 Apr 6.

Coronary Care Unit, IRCCS Policlinico San Matteo Foundation, Pavia, Italy.; Laboratory of Experimental Cardiology for Cell and Molecular Therapy, IRCCS Policlinico San Matteo Foundation, Pavia, Italy.; Department of Molecular Medicine, Unit of Cardiology, University of Pavia, Pavia, Italy.; Department of Medicine, University of Cape Town, Cape Town, South Africa.. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2018.04.003DOI Listing
May 2018

Generation of the human induced pluripotent stem cell (hiPSC) line PSMi002-A from a patient affected by the Jervell and Lange-Nielsen syndrome and carrier of two compound heterozygous mutations on the KCNQ1 gene.

Stem Cell Res 2018 05 7;29:157-161. Epub 2018 Apr 7.

Coronary Care Unit, IRCCS Policlinico San Matteo Foundation, Pavia, Italy; Laboratory of Experimental Cardiology for Cell and Molecular Therapy, IRCCS Policlinico San Matteo Foundation, Pavia, Italy; Department of Molecular Medicine, Unit of Cardiology, University of Pavia, Pavia, Italy; Department of Medicine, University of Cape Town, Cape Town, South Africa. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2018.04.002DOI Listing
May 2018

Intrafamilial variability in a polish family harbouring a frameshift THAP1 mutation.

J Neurol Sci 2018 05 16;388:158. Epub 2018 Mar 16.

Neurogenetic Unit, IRCCS Santa Lucia Foundation, Rome, Italy; Department of Molecular Medicine, University of Pavia, Pavia, Italy.

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http://dx.doi.org/10.1016/j.jns.2018.03.026DOI Listing
May 2018

Solving Mendelian Mysteries: The Non-coding Genome May Hold the Key.

Cell 2018 02;172(5):889-891

Sobell Department, Institute of Neurology, University College of London, London, UK.

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http://dx.doi.org/10.1016/j.cell.2018.02.022DOI Listing
February 2018

Production and characterization of human induced pluripotent stem cells (iPSCs) from Joubert Syndrome: CSSi001-A (2850).

Stem Cell Res 2018 03 9;27:74-77. Epub 2018 Jan 9.

IRCCS Casa Sollievo della Sofferenza, Cellular Reprogramming Unit - Viale dei Cappuccini, San Giovanni Rotondo, Foggia 71013, Italy; Biotechnology and Bioscience Department, Bicocca University, Piazza della Scienza 2, Milan 20126, Italy; IRCCS Casa Sollievo della Sofferenza, viale dei Cappuccini, San Giovanni Rotondo, Foggia 71013, Italy.

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http://dx.doi.org/10.1016/j.scr.2018.01.012DOI Listing
March 2018

The multiple faces of TOR1A: different inheritance, different phenotype.

Brain 2017 11;140(11):2764-2767

Neurogenetics Unit, IRCCS Santa Lucia Foundation, Rome, Italy.

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http://dx.doi.org/10.1093/brain/awx260DOI Listing
November 2017

Genetic Paradoxes in an Italian Family with Multiexon Duplication.

Mov Disord Clin Pract 2017 Nov-Dec;4(6):889-892. Epub 2017 Sep 8.

Neurogenetics Unit Istituto di Ricovero e Cura a Carattere Scientifico Santa Lucia Foundation Rome Italy.

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http://dx.doi.org/10.1002/mdc3.12531DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6353389PMC
September 2017

encephalopathy: Broadening the phenotype and evaluating treatment and outcome.

Neurol Genet 2017 Apr 21;3(2):e143. Epub 2017 Mar 21.

Department of Paediatrics, Child Neurology and Psychiatry (F.R.D., S.G., V.L.), Sapienza University of Rome, Italy; Molecular Neurosciences, Developmental Neurosciences Programme (F.R.D., J.N., A.M., M.A.K.), University College London Institute of Child Health, UK; Department of Neurology (F.R.D., J.N., A.M., M.A.K.), Great Ormond Street Hospital for Children, London, UK; GENOMA Group (M.R.), Molecular Genetics Laboratory, Rome, Italy; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories (M.M., E.P., C.B., R.G.), Neuroscience Department, A Meyer Children's Hospital, University of Florence, Italy; Department of Haematology (K.J.C.), University of Cambridge, NHS Blood and Transplant Centre, UK; NIHR Bioresource Rare Diseases (K.J.C., F.L.R.), University of Cambridge, UK; Department of Neurology (N.M.), Westmead Hospital, Sydney, Australia; Childrens Hospital Oxford (T.M.), John Radcliffe Hospital, UK; Institute for Neuroscience and Muscle Research (R.C.D., S.S.M., U.S.), the Children's Hospital at Westmead, University of Sydney, Australia; Department of Medical Genetics (F.L.R.), Cambridge Institute for Medical Research, University of Cambridge, UK; Department of Neurology (R.S.), University Hospitals Leicester NHS Trust, UK; Department of Paediatric Neurology (G.V.), Leeds Teaching Hospitals NHS Trust, UK; Section of Neurosciences (E.M.V.), Department of Medicine and Surgery, University of Salerno, Italy; and Neurogenetics Unit (E.M.V.), IRCCS Fondazione Santa Lucia, Rome, Italy.

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http://dx.doi.org/10.1212/NXG.0000000000000143DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5362187PMC
April 2017

Early-onset head titubation in a child with Poretti-Boltshauser syndrome.

Neurology 2017 04 10;88(15):1478-1479. Epub 2017 Mar 10.

From the University of Verona (R.M., E.P., S.P., G.C.); Verona Hospital (E.G.), Italy; Johns Hopkins University (A.P.), Baltimore, MD; IRCCS Santa Lucia Foundation (E.M.V.), Rome; and Department of Molecular Medicine (E.M.V.), University of Pavia, Pavia, Italy.

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http://dx.doi.org/10.1212/WNL.0000000000003823DOI Listing
April 2017

KMT2B: A new twist in dystonia genetics.

Mov Disord 2017 04 20;32(4):529. Epub 2017 Feb 20.

Department of Molecular Medicine, University of Pavia, Pavia, Italy.

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http://doi.wiley.com/10.1002/mds.26957
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http://dx.doi.org/10.1002/mds.26957DOI Listing
April 2017

Motile and non-motile cilia in human pathology: from function to phenotypes.

J Pathol 2017 Jan;241(2):294-309

Department of Medicine and Surgery, University of Salerno, Salerno, Italy.

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http://dx.doi.org/10.1002/path.4843DOI Listing
January 2017

DYT2 screening in early-onset isolated dystonia.

Eur J Paediatr Neurol 2017 Mar 13;21(2):269-271. Epub 2016 Oct 13.

Molecular Neurogenetics Unit, IRCCS Foundation C. Besta Neurological Institute, Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2016.10.001DOI Listing
March 2017

PINK1 in the limelight: multiple functions of an eclectic protein in human health and disease.

J Pathol 2017 Jan 12;241(2):251-263. Epub 2016 Nov 12.

Section of Neurosciences, Department of Medicine and Surgery, University of Salerno, Salerno, Italy.

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http://dx.doi.org/10.1002/path.4815DOI Listing
January 2017

Impulsive-compulsive behaviors in parkin-associated Parkinson disease.

Neurology 2016 Oct 2;87(14):1436-1441. Epub 2016 Sep 2.

From the Department of Clinical and Experimental Medicine (F.M., C.S.), University of Messina, Italy; Morton and Gloria Shulman Movement Disorders Clinic and the Edmond J. Safra Program in Parkinson's Disease (A.F.), Toronto Western Hospital, UHN, Division of Neurology, University of Toronto, Canada; Department of Neurology and Psychiatry (S.P.), Sapienza University of Rome, Italy; Sobell Department of Motor Neuroscience and Movement Disorders (L.R.), Institute of Neurology, University College London, UK; Department of Geriatrics, Neuroscience and Orthopedics (F.B., A.R.B.), Università Cattolica del Sacro Cuore, Rome; Department of Neurosciences, Reproductive and Odontostomatological Sciences (C.C., M.M., A.D.R., G.D.M.), Federico II University, Naples; Department of Medicine and Surgery (M.G., M.M., P.B., M.T.P., E.M.V.), Neuroscience Section, University of Salerno, and Neurogenetics Unit (E.M.V.), IRCCS Santa Lucia Foundation, Rome, Italy.

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http://dx.doi.org/10.1212/WNL.0000000000003177DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5075971PMC
October 2016

Progressive Supranuclear Palsy-Like Phenotype in a E326K Mutation Carrier.

Mov Disord Clin Pract 2017 May-Jun;4(3):444-446. Epub 2016 Jul 27.

Center for Neurodegenerative Diseases (CEMAND) Department of Medicine and Surgery Neuroscience section University of Salerno Salerno Italy.

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http://dx.doi.org/10.1002/mdc3.12406DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6353524PMC
July 2016

Very mild features of dysequilibrium syndrome associated with a novel VLDLR missense mutation.

Neurogenetics 2016 07 2;17(3):191-5. Epub 2016 Jun 2.

Section of Neurosciences, Department of Medicine and Surgery, University of Salerno, Via Salvador Allende, 84081, Baronissi, Salerno, Italy.

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http://dx.doi.org/10.1007/s10048-016-0488-yDOI Listing
July 2016

"Fork and bracket" syndrome expands the spectrum of SBF1-related sensory motor polyneuropathies.

Neurol Genet 2016 Apr 3;2(2):e61. Epub 2016 Mar 3.

CSS-Mendel Institute (M.R., T.M., E.M.V.), IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy; Division of Immunology (C.M.), Boston Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, MA; Institut Jérôme Lejeune (A.M.), Paris, France; and Section of Neurosciences (E.M.V.), Department of Medicine and Surgery, University of Salerno, Salerno, Italy.

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http://dx.doi.org/10.1212/NXG.0000000000000061DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4830194PMC
April 2016

Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain.

J Med Genet 2016 08 14;53(8):533-5. Epub 2016 Mar 14.

School of Clinical Medicine, University of Cambridge School of Clinical Medicine, Cambridge, UK Cambridge Institute for Medical Research, University of Cambridge, Cambridge Biomedical Campus, Wellcome Trust, Cambridge, UK.

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http://dx.doi.org/10.1136/jmedgenet-2015-103646DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4975812PMC
August 2016

Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition).

Authors:
Daniel J Klionsky Kotb Abdelmohsen Akihisa Abe Md Joynal Abedin Hagai Abeliovich Abraham Acevedo Arozena Hiroaki Adachi Christopher M Adams Peter D Adams Khosrow Adeli Peter J Adhihetty Sharon G Adler Galila Agam Rajesh Agarwal Manish K Aghi Maria Agnello Patrizia Agostinis Patricia V Aguilar Julio Aguirre-Ghiso Edoardo M Airoldi Slimane Ait-Si-Ali Takahiko Akematsu Emmanuel T Akporiaye Mohamed Al-Rubeai Guillermo M Albaiceta Chris Albanese Diego Albani Matthew L Albert Jesus Aldudo Hana Algül Mehrdad Alirezaei Iraide Alloza Alexandru Almasan Maylin Almonte-Beceril Emad S Alnemri Covadonga Alonso Nihal Altan-Bonnet Dario C Altieri Silvia Alvarez Lydia Alvarez-Erviti Sandro Alves Giuseppina Amadoro Atsuo Amano Consuelo Amantini Santiago Ambrosio Ivano Amelio Amal O Amer Mohamed Amessou Angelika Amon Zhenyi An Frank A Anania Stig U Andersen Usha P Andley Catherine K Andreadi Nathalie Andrieu-Abadie Alberto Anel David K Ann Shailendra Anoopkumar-Dukie Manuela Antonioli Hiroshi Aoki Nadezda Apostolova Saveria Aquila Katia Aquilano Koichi Araki Eli Arama Agustin Aranda Jun Araya Alexandre Arcaro Esperanza Arias Hirokazu Arimoto Aileen R Ariosa Jane L Armstrong Thierry Arnould Ivica Arsov Katsuhiko Asanuma Valerie Askanas Eric Asselin Ryuichiro Atarashi Sally S Atherton Julie D Atkin Laura D Attardi Patrick Auberger Georg Auburger Laure Aurelian Riccardo Autelli Laura Avagliano Maria Laura Avantaggiati Limor Avrahami Suresh Awale Neelam Azad Tiziana Bachetti Jonathan M Backer Dong-Hun Bae Jae-Sung Bae Ok-Nam Bae Soo Han Bae Eric H Baehrecke Seung-Hoon Baek Stephen Baghdiguian Agnieszka Bagniewska-Zadworna Hua Bai Jie Bai Xue-Yuan Bai Yannick Bailly Kithiganahalli Narayanaswamy Balaji Walter Balduini Andrea Ballabio Rena Balzan Rajkumar Banerjee Gábor Bánhegyi Haijun Bao Benoit Barbeau Maria D Barrachina Esther Barreiro Bonnie Bartel Alberto Bartolomé Diane C Bassham Maria Teresa Bassi Robert C Bast Alakananda Basu Maria Teresa Batista Henri Batoko Maurizio Battino Kyle Bauckman Bradley L Baumgarner K Ulrich Bayer Rupert Beale Jean-François Beaulieu George R Beck Christoph Becker J David Beckham Pierre-André Bédard Patrick J Bednarski Thomas J Begley Christian Behl Christian Behrends Georg Mn Behrens Kevin E Behrns Eloy Bejarano Amine Belaid Francesca Belleudi Giovanni Bénard Guy Berchem Daniele Bergamaschi Matteo Bergami Ben Berkhout Laura Berliocchi Amélie Bernard Monique Bernard Francesca Bernassola Anne Bertolotti Amanda S Bess Sébastien Besteiro Saverio Bettuzzi Savita Bhalla Shalmoli Bhattacharyya Sujit K Bhutia Caroline Biagosch Michele Wolfe Bianchi Martine Biard-Piechaczyk Viktor Billes Claudia Bincoletto Baris Bingol Sara W Bird Marc Bitoun Ivana Bjedov Craig Blackstone Lionel Blanc Guillermo A Blanco Heidi Kiil Blomhoff Emilio Boada-Romero Stefan Böckler Marianne Boes Kathleen Boesze-Battaglia Lawrence H Boise Alessandra Bolino Andrea Boman Paolo Bonaldo Matteo Bordi Jürgen Bosch Luis M Botana Joelle Botti German Bou Marina Bouché Marion Bouchecareilh Marie-Josée Boucher Michael E Boulton Sebastien G Bouret Patricia Boya Michaël Boyer-Guittaut Peter V Bozhkov Nathan Brady Vania Mm Braga Claudio Brancolini Gerhard H Braus José M Bravo-San Pedro Lisa A Brennan Emery H Bresnick Patrick Brest Dave Bridges Marie-Agnès Bringer Marisa Brini Glauber C Brito Bertha Brodin Paul S Brookes Eric J Brown Karen Brown Hal E Broxmeyer Alain Bruhat Patricia Chakur Brum John H Brumell Nicola Brunetti-Pierri Robert J Bryson-Richardson Shilpa Buch Alastair M Buchan Hikmet Budak Dmitry V Bulavin Scott J Bultman Geert Bultynck Vladimir Bumbasirevic Yan Burelle Robert E Burke Margit Burmeister Peter Bütikofer Laura Caberlotto Ken Cadwell Monika Cahova Dongsheng Cai Jingjing Cai Qian Cai Sara Calatayud Nadine Camougrand Michelangelo Campanella Grant R Campbell Matthew Campbell Silvia Campello Robin Candau Isabella Caniggia Lavinia Cantoni Lizhi Cao Allan B Caplan Michele Caraglia Claudio Cardinali Sandra Morais Cardoso Jennifer S Carew Laura A Carleton Cathleen R Carlin Silvia Carloni Sven R Carlsson Didac Carmona-Gutierrez Leticia Am Carneiro Oliana Carnevali Serena Carra Alice Carrier Bernadette Carroll Caty Casas Josefina Casas Giuliana Cassinelli Perrine Castets Susana Castro-Obregon Gabriella Cavallini Isabella Ceccherini Francesco Cecconi Arthur I Cederbaum Valentín Ceña Simone Cenci Claudia Cerella Davide Cervia Silvia Cetrullo Hassan Chaachouay Han-Jung Chae Andrei S Chagin Chee-Yin Chai Gopal Chakrabarti Georgios Chamilos Edmond Yw Chan Matthew Tv Chan Dhyan Chandra Pallavi Chandra Chih-Peng Chang Raymond Chuen-Chung Chang Ta Yuan Chang John C Chatham Saurabh Chatterjee Santosh Chauhan Yongsheng Che Michael E Cheetham Rajkumar Cheluvappa Chun-Jung Chen Gang Chen Guang-Chao Chen Guoqiang Chen Hongzhuan Chen Jeff W Chen Jian-Kang Chen Min Chen Mingzhou Chen Peiwen Chen Qi Chen Quan Chen Shang-Der Chen Si Chen Steve S-L Chen Wei Chen Wei-Jung Chen Wen Qiang Chen Wenli Chen Xiangmei Chen Yau-Hung Chen Ye-Guang Chen Yin Chen Yingyu Chen Yongshun Chen Yu-Jen Chen Yue-Qin Chen Yujie Chen Zhen Chen Zhong Chen Alan Cheng Christopher Hk Cheng Hua Cheng Heesun Cheong Sara Cherry Jason Chesney Chun Hei Antonio Cheung Eric Chevet Hsiang Cheng Chi Sung-Gil Chi Fulvio Chiacchiera Hui-Ling Chiang Roberto Chiarelli Mario Chiariello Marcello Chieppa Lih-Shen Chin Mario Chiong Gigi Nc Chiu Dong-Hyung Cho Ssang-Goo Cho William C Cho Yong-Yeon Cho Young-Seok Cho Augustine Mk Choi Eui-Ju Choi Eun-Kyoung Choi Jayoung Choi Mary E Choi Seung-Il Choi Tsui-Fen Chou Salem Chouaib Divaker Choubey Vinay Choubey Kuan-Chih Chow Kamal Chowdhury Charleen T Chu Tsung-Hsien Chuang Taehoon Chun Hyewon Chung Taijoon Chung Yuen-Li Chung Yong-Joon Chwae Valentina Cianfanelli Roberto Ciarcia Iwona A Ciechomska Maria Rosa Ciriolo Mara Cirone Sofie Claerhout Michael J Clague Joan Clària Peter Gh Clarke Robert Clarke Emilio Clementi Cédric Cleyrat Miriam Cnop Eliana M Coccia Tiziana Cocco Patrice Codogno Jörn Coers Ezra Ew Cohen David Colecchia Luisa Coletto Núria S Coll Emma Colucci-Guyon Sergio Comincini Maria Condello Katherine L Cook Graham H Coombs Cynthia D Cooper J Mark Cooper Isabelle Coppens Maria Tiziana Corasaniti Marco Corazzari Ramon Corbalan Elisabeth Corcelle-Termeau Mario D Cordero Cristina Corral-Ramos Olga Corti Andrea Cossarizza Paola Costelli Safia Costes Susan L Cotman Ana Coto-Montes Sandra Cottet Eduardo Couve Lori R Covey L Ashley Cowart Jeffery S Cox Fraser P Coxon Carolyn B Coyne Mark S Cragg Rolf J Craven Tiziana Crepaldi Jose L Crespo Alfredo Criollo Valeria Crippa Maria Teresa Cruz Ana Maria Cuervo Jose M Cuezva Taixing Cui Pedro R Cutillas Mark J Czaja Maria F Czyzyk-Krzeska Ruben K Dagda Uta Dahmen Chunsun Dai Wenjie Dai Yun Dai Kevin N Dalby Luisa Dalla Valle Guillaume Dalmasso Marcello D'Amelio Markus Damme Arlette Darfeuille-Michaud Catherine Dargemont Victor M Darley-Usmar Srinivasan Dasarathy Biplab Dasgupta Srikanta Dash Crispin R Dass Hazel Marie Davey Lester M Davids David Dávila Roger J Davis Ted M Dawson Valina L Dawson Paula Daza Jackie de Belleroche Paul de Figueiredo Regina Celia Bressan Queiroz de Figueiredo José de la Fuente Luisa De Martino Antonella De Matteis Guido Ry De Meyer Angelo De Milito Mauro De Santi Wanderley de Souza Vincenzo De Tata Daniela De Zio Jayanta Debnath Reinhard Dechant Jean-Paul Decuypere Shane Deegan Benjamin Dehay Barbara Del Bello Dominic P Del Re Régis Delage-Mourroux Lea Md Delbridge Louise Deldicque Elizabeth Delorme-Axford Yizhen Deng Joern Dengjel Melanie Denizot Paul Dent Channing J Der Vojo Deretic Benoît Derrien Eric Deutsch Timothy P Devarenne Rodney J Devenish Sabrina Di Bartolomeo Nicola Di Daniele Fabio Di Domenico Alessia Di Nardo Simone Di Paola Antonio Di Pietro Livia Di Renzo Aaron DiAntonio Guillermo Díaz-Araya Ines Díaz-Laviada Maria T Diaz-Meco Javier Diaz-Nido Chad A Dickey Robert C Dickson Marc Diederich Paul Digard Ivan Dikic Savithrama P Dinesh-Kumar Chan Ding Wen-Xing Ding Zufeng Ding Luciana Dini Jörg Hw Distler Abhinav Diwan Mojgan Djavaheri-Mergny Kostyantyn Dmytruk Renwick Cj Dobson Volker Doetsch Karol Dokladny Svetlana Dokudovskaya Massimo Donadelli X Charlie Dong Xiaonan Dong Zheng Dong Terrence M Donohue Kelly S Doran Gabriella D'Orazi Gerald W Dorn Victor Dosenko Sami Dridi Liat Drucker Jie Du Li-Lin Du Lihuan Du André du Toit Priyamvada Dua Lei Duan Pu Duann Vikash Kumar Dubey Michael R Duchen Michel A Duchosal Helene Duez Isabelle Dugail Verónica I Dumit Mara C Duncan Elaine A Dunlop William A Dunn Nicolas Dupont Luc Dupuis Raúl V Durán Thomas M Durcan Stéphane Duvezin-Caubet Umamaheswar Duvvuri Vinay Eapen Darius Ebrahimi-Fakhari Arnaud Echard Leopold Eckhart Charles L Edelstein Aimee L Edinger Ludwig Eichinger Tobias Eisenberg Avital Eisenberg-Lerner N Tony Eissa Wafik S El-Deiry Victoria El-Khoury Zvulun Elazar Hagit Eldar-Finkelman Chris Jh Elliott Enzo Emanuele Urban Emmenegger Nikolai Engedal Anna-Mart Engelbrecht Simone Engelender Jorrit M Enserink Ralf Erdmann Jekaterina Erenpreisa Rajaraman Eri Jason L Eriksen Andreja Erman Ricardo Escalante Eeva-Liisa Eskelinen Lucile Espert Lorena Esteban-Martínez Thomas J Evans Mario Fabri Gemma Fabrias Cinzia Fabrizi Antonio Facchiano Nils J Færgeman Alberto Faggioni W Douglas Fairlie Chunhai Fan Daping Fan Jie Fan Shengyun Fang Manolis Fanto Alessandro Fanzani Thomas Farkas Mathias Faure Francois B Favier Howard Fearnhead Massimo Federici Erkang Fei Tania C Felizardo Hua Feng Yibin Feng Yuchen Feng Thomas A Ferguson Álvaro F Fernández Maite G Fernandez-Barrena Jose C Fernandez-Checa Arsenio Fernández-López Martin E Fernandez-Zapico Olivier Feron Elisabetta Ferraro Carmen Veríssima Ferreira-Halder Laszlo Fesus Ralph Feuer Fabienne C Fiesel Eduardo C Filippi-Chiela Giuseppe Filomeni Gian Maria Fimia John H Fingert Steven Finkbeiner Toren Finkel Filomena Fiorito Paul B Fisher Marc Flajolet Flavio Flamigni Oliver Florey Salvatore Florio R Andres Floto Marco Folini Carlo Follo Edward A Fon Francesco Fornai Franco Fortunato Alessandro Fraldi Rodrigo Franco Arnaud Francois Aurélie François Lisa B Frankel Iain Dc Fraser Norbert Frey Damien G Freyssenet Christian Frezza Scott L Friedman Daniel E Frigo Dongxu Fu José M Fuentes Juan Fueyo Yoshio Fujitani Yuuki Fujiwara Mikihiro Fujiya Mitsunori Fukuda Simone Fulda Carmela Fusco Bozena Gabryel Matthias Gaestel Philippe Gailly Malgorzata Gajewska Sehamuddin Galadari Gad Galili Inmaculada Galindo Maria F Galindo Giovanna Galliciotti Lorenzo Galluzzi Luca Galluzzi Vincent Galy Noor Gammoh Sam Gandy Anand K Ganesan Swamynathan Ganesan Ian G Ganley Monique Gannagé Fen-Biao Gao Feng Gao Jian-Xin Gao Lorena García Nannig Eleonora García Véscovi Marina Garcia-Macía Carmen Garcia-Ruiz Abhishek D Garg Pramod Kumar Garg Ricardo Gargini Nils Christian Gassen Damián Gatica Evelina Gatti Julie Gavard Evripidis Gavathiotis Liang Ge Pengfei Ge Shengfang Ge Po-Wu Gean Vania Gelmetti Armando A Genazzani Jiefei Geng Pascal Genschik Lisa Gerner Jason E Gestwicki David A Gewirtz Saeid Ghavami Eric Ghigo Debabrata Ghosh Anna Maria Giammarioli Francesca Giampieri Claudia Giampietri Alexandra Giatromanolaki Derrick J Gibbings Lara Gibellini Spencer B Gibson Vanessa Ginet Antonio Giordano Flaviano Giorgini Elisa Giovannetti Stephen E Girardin Suzana Gispert Sandy Giuliano Candece L Gladson Alvaro Glavic Martin Gleave Nelly Godefroy Robert M Gogal Kuppan Gokulan Gustavo H Goldman Delia Goletti Michael S Goligorsky Aldrin V Gomes Ligia C Gomes Hernando Gomez Candelaria Gomez-Manzano Rubén Gómez-Sánchez Dawit Ap Gonçalves Ebru Goncu Qingqiu Gong Céline Gongora Carlos B Gonzalez Pedro Gonzalez-Alegre Pilar Gonzalez-Cabo Rosa Ana González-Polo Ing Swie Goping Carlos Gorbea Nikolai V Gorbunov Daphne R Goring Adrienne M Gorman Sharon M Gorski Sandro Goruppi Shino Goto-Yamada Cecilia Gotor Roberta A Gottlieb Illana Gozes Devrim Gozuacik Yacine Graba Martin Graef Giovanna E Granato Gary Dean Grant Steven Grant Giovanni Luca Gravina Douglas R Green Alexander Greenhough Michael T Greenwood Benedetto Grimaldi Frédéric Gros Charles Grose Jean-Francois Groulx Florian Gruber Paolo Grumati Tilman Grune Jun-Lin Guan Kun-Liang Guan Barbara Guerra Carlos Guillen Kailash Gulshan Jan Gunst Chuanyong Guo Lei Guo Ming Guo Wenjie Guo Xu-Guang Guo Andrea A Gust Åsa B Gustafsson Elaine Gutierrez Maximiliano G Gutierrez Ho-Shin Gwak Albert Haas James E Haber Shinji Hadano Monica Hagedorn David R Hahn Andrew J Halayko Anne Hamacher-Brady Kozo Hamada Ahmed Hamai Andrea Hamann Maho Hamasaki Isabelle Hamer Qutayba Hamid Ester M Hammond Feng Han Weidong Han James T Handa John A Hanover Malene Hansen Masaru Harada Ljubica Harhaji-Trajkovic J Wade Harper Abdel Halim Harrath Adrian L Harris James Harris Udo Hasler Peter Hasselblatt Kazuhisa Hasui Robert G Hawley Teresa S Hawley Congcong He Cynthia Y He Fengtian He Gu He Rong-Rong He Xian-Hui He You-Wen He Yu-Ying He Joan K Heath Marie-Josée Hébert Robert A Heinzen Gudmundur Vignir Helgason Michael Hensel Elizabeth P Henske Chengtao Her Paul K Herman Agustín Hernández Carlos Hernandez Sonia Hernández-Tiedra Claudio Hetz P Robin Hiesinger Katsumi Higaki Sabine Hilfiker Bradford G Hill Joseph A Hill William D Hill Keisuke Hino Daniel Hofius Paul Hofman Günter U Höglinger Jörg Höhfeld Marina K Holz Yonggeun Hong David A Hood Jeroen Jm Hoozemans Thorsten Hoppe Chin Hsu Chin-Yuan Hsu Li-Chung Hsu Dong Hu Guochang Hu Hong-Ming Hu Hongbo Hu Ming Chang Hu Yu-Chen Hu Zhuo-Wei Hu Fang Hua Ya Hua Canhua Huang Huey-Lan Huang Kuo-How Huang Kuo-Yang Huang Shile Huang Shiqian Huang Wei-Pang Huang Yi-Ran Huang Yong Huang Yunfei Huang Tobias B Huber Patricia Huebbe Won-Ki Huh Juha J Hulmi Gang Min Hur James H Hurley Zvenyslava Husak Sabah Na Hussain Salik Hussain Jung Jin Hwang Seungmin Hwang Thomas Is Hwang Atsuhiro Ichihara Yuzuru Imai Carol Imbriano Megumi Inomata Takeshi Into Valentina Iovane Juan L Iovanna Renato V Iozzo Nancy Y Ip Javier E Irazoqui Pablo Iribarren Yoshitaka Isaka Aleksandra J Isakovic Harry Ischiropoulos Jeffrey S Isenberg Mohammad Ishaq Hiroyuki Ishida Isao Ishii Jane E Ishmael Ciro Isidoro Ken-Ichi Isobe Erika Isono Shohreh Issazadeh-Navikas Koji Itahana Eisuke Itakura Andrei I Ivanov Anand Krishnan V Iyer José M Izquierdo Yotaro Izumi Valentina Izzo Marja Jäättelä Nadia Jaber Daniel John Jackson William T Jackson Tony George Jacob Thomas S Jacques Chinnaswamy Jagannath Ashish Jain Nihar Ranjan Jana Byoung Kuk Jang Alkesh Jani Bassam Janji Paulo Roberto Jannig Patric J Jansson Steve Jean Marina Jendrach Ju-Hong Jeon Niels Jessen Eui-Bae Jeung Kailiang Jia Lijun Jia Hong Jiang Hongchi Jiang Liwen Jiang Teng Jiang Xiaoyan Jiang Xuejun Jiang Xuejun Jiang Ying Jiang Yongjun Jiang Alberto Jiménez Cheng Jin Hongchuan Jin Lei Jin Meiyan Jin Shengkan Jin Umesh Kumar Jinwal Eun-Kyeong Jo Terje Johansen Daniel E Johnson Gail Vw Johnson James D Johnson Eric Jonasch Chris Jones Leo Ab Joosten Joaquin Jordan Anna-Maria Joseph Bertrand Joseph Annie M Joubert Dianwen Ju Jingfang Ju Hsueh-Fen Juan Katrin Juenemann Gábor Juhász Hye Seung Jung Jae U Jung Yong-Keun Jung Heinz Jungbluth Matthew J Justice Barry Jutten Nadeem O Kaakoush Kai Kaarniranta Allen Kaasik Tomohiro Kabuta Bertrand Kaeffer Katarina Kågedal Alon Kahana Shingo Kajimura Or Kakhlon Manjula Kalia Dhan V Kalvakolanu Yoshiaki Kamada Konstantinos Kambas Vitaliy O Kaminskyy Harm H Kampinga Mustapha Kandouz Chanhee Kang Rui Kang Tae-Cheon Kang Tomotake Kanki Thirumala-Devi Kanneganti Haruo Kanno Anumantha G Kanthasamy Marc Kantorow Maria Kaparakis-Liaskos Orsolya Kapuy Vassiliki Karantza Md Razaul Karim Parimal Karmakar Arthur Kaser Susmita Kaushik Thomas Kawula A Murat Kaynar Po-Yuan Ke Zun-Ji Ke John H Kehrl Kate E Keller Jongsook Kim Kemper Anne K Kenworthy Oliver Kepp Andreas Kern Santosh Kesari David Kessel Robin Ketteler Isis do Carmo Kettelhut Bilon Khambu Muzamil Majid Khan Vinoth Km Khandelwal Sangeeta Khare Juliann G Kiang Amy A Kiger Akio Kihara Arianna L Kim Cheol Hyeon Kim Deok Ryong Kim Do-Hyung Kim Eung Kweon Kim Hye Young Kim Hyung-Ryong Kim Jae-Sung Kim Jeong Hun Kim Jin Cheon Kim Jin Hyoung Kim Kwang Woon Kim Michael D Kim Moon-Moo Kim Peter K Kim Seong Who Kim Soo-Youl Kim Yong-Sun Kim Yonghyun Kim Adi Kimchi Alec C Kimmelman Tomonori Kimura Jason S King Karla Kirkegaard Vladimir Kirkin Lorrie A Kirshenbaum Shuji Kishi Yasuo Kitajima Katsuhiko Kitamoto Yasushi Kitaoka Kaio Kitazato Rudolf A Kley Walter T Klimecki Michael Klinkenberg Jochen Klucken Helene Knævelsrud Erwin Knecht Laura Knuppertz Jiunn-Liang Ko Satoru Kobayashi Jan C Koch Christelle Koechlin-Ramonatxo Ulrich Koenig Young Ho Koh Katja Köhler Sepp D Kohlwein Masato Koike Masaaki Komatsu Eiki Kominami Dexin Kong Hee Jeong Kong Eumorphia G Konstantakou Benjamin T Kopp Tamas Korcsmaros Laura Korhonen Viktor I Korolchuk Nadya V Koshkina Yanjun Kou Michael I Koukourakis Constantinos Koumenis Attila L Kovács Tibor Kovács Werner J Kovacs Daisuke Koya Claudine Kraft Dimitri Krainc Helmut Kramer Tamara Kravic-Stevovic Wilhelm Krek Carole Kretz-Remy Roswitha Krick Malathi Krishnamurthy Janos Kriston-Vizi Guido Kroemer Michael C Kruer Rejko Kruger Nicholas T Ktistakis Kazuyuki Kuchitsu Christian Kuhn Addanki Pratap Kumar Anuj Kumar Ashok Kumar Deepak Kumar Dhiraj Kumar Rakesh Kumar Sharad Kumar Mondira Kundu Hsing-Jien Kung Atsushi Kuno Sheng-Han Kuo Jeff Kuret Tino Kurz Terry Kwok Taeg Kyu Kwon Yong Tae Kwon Irene Kyrmizi Albert R La Spada Frank Lafont Tim Lahm Aparna Lakkaraju Truong Lam Trond Lamark Steve Lancel Terry H Landowski Darius J R Lane Jon D Lane Cinzia Lanzi Pierre Lapaquette Louis R Lapierre Jocelyn Laporte Johanna Laukkarinen Gordon W Laurie Sergio Lavandero Lena Lavie Matthew J LaVoie Betty Yuen Kwan Law Helen Ka-Wai Law Kelsey B Law Robert Layfield Pedro A Lazo Laurent Le Cam Karine G Le Roch Hervé Le Stunff Vijittra Leardkamolkarn Marc Lecuit Byung-Hoon Lee Che-Hsin Lee Erinna F Lee Gyun Min Lee He-Jin Lee Hsinyu Lee Jae Keun Lee Jongdae Lee Ju-Hyun Lee Jun Hee Lee Michael Lee Myung-Shik Lee Patty J Lee Sam W Lee Seung-Jae Lee Shiow-Ju Lee Stella Y Lee Sug Hyung Lee Sung Sik Lee Sung-Joon Lee Sunhee Lee Ying-Ray Lee Yong J Lee Young H Lee Christiaan Leeuwenburgh Sylvain Lefort Renaud Legouis Jinzhi Lei Qun-Ying Lei David A Leib Gil Leibowitz Istvan Lekli Stéphane D Lemaire John J Lemasters Marius K Lemberg Antoinette Lemoine Shuilong Leng Guido Lenz Paola Lenzi Lilach O Lerman Daniele Lettieri Barbato Julia I-Ju Leu Hing Y Leung Beth Levine Patrick A Lewis Frank Lezoualc'h Chi Li Faqiang Li Feng-Jun Li Jun Li Ke Li Lian Li Min Li Min Li Qiang Li Rui Li Sheng Li Wei Li Wei Li Xiaotao Li Yumin Li Jiqin Lian Chengyu Liang Qiangrong Liang Yulin Liao Joana Liberal Pawel P Liberski Pearl Lie Andrew P Lieberman Hyunjung Jade Lim Kah-Leong Lim Kyu Lim Raquel T Lima Chang-Shen Lin Chiou-Feng Lin Fang Lin Fangming Lin Fu-Cheng Lin Kui Lin Kwang-Huei Lin Pei-Hui Lin Tianwei Lin Wan-Wan Lin Yee-Shin Lin Yong Lin Rafael Linden Dan Lindholm Lisa M Lindqvist Paul Lingor Andreas Linkermann Lance A Liotta Marta M Lipinski Vitor A Lira Michael P Lisanti Paloma B Liton Bo Liu Chong Liu Chun-Feng Liu Fei Liu Hung-Jen Liu Jianxun Liu Jing-Jing Liu Jing-Lan Liu Ke Liu Leyuan Liu Liang Liu Quentin Liu Rong-Yu Liu Shiming Liu Shuwen Liu Wei Liu Xian-De Liu Xiangguo Liu Xiao-Hong Liu Xinfeng Liu Xu Liu Xueqin Liu Yang Liu Yule Liu Zexian Liu Zhe Liu Juan P Liuzzi Gérard Lizard Mila Ljujic Irfan J Lodhi Susan E Logue Bal L Lokeshwar Yun Chau Long Sagar Lonial Benjamin Loos Carlos López-Otín Cristina López-Vicario Mar Lorente Philip L Lorenzi Péter Lõrincz Marek Los Michael T Lotze Penny E Lovat Binfeng Lu Bo Lu Jiahong Lu Qing Lu She-Min Lu Shuyan Lu Yingying Lu Frédéric Luciano Shirley Luckhart John Milton Lucocq Paula Ludovico Aurelia Lugea Nicholas W Lukacs Julian J Lum Anders H Lund Honglin Luo Jia Luo Shouqing Luo Claudio Luparello Timothy Lyons Jianjie Ma Yi Ma Yong Ma Zhenyi Ma Juliano Machado Glaucia M Machado-Santelli Fernando Macian Gustavo C MacIntosh Jeffrey P MacKeigan Kay F Macleod John D MacMicking Lee Ann MacMillan-Crow Frank Madeo Muniswamy Madesh Julio Madrigal-Matute Akiko Maeda Tatsuya Maeda Gustavo Maegawa Emilia Maellaro Hannelore Maes Marta Magariños Kenneth Maiese Tapas K Maiti Luigi Maiuri Maria Chiara Maiuri Carl G Maki Roland Malli Walter Malorni Alina Maloyan Fathia Mami-Chouaib Na Man Joseph D Mancias Eva-Maria Mandelkow Michael A Mandell Angelo A Manfredi Serge N Manié Claudia Manzoni Kai Mao Zixu Mao Zong-Wan Mao Philippe Marambaud Anna Maria Marconi Zvonimir Marelja Gabriella Marfe Marta Margeta Eva Margittai Muriel Mari Francesca V Mariani Concepcio Marin Sara Marinelli Guillermo Mariño Ivanka Markovic Rebecca Marquez Alberto M Martelli Sascha Martens Katie R Martin Seamus J Martin Shaun Martin Miguel A Martin-Acebes Paloma Martín-Sanz Camille Martinand-Mari Wim Martinet Jennifer Martinez Nuria Martinez-Lopez Ubaldo Martinez-Outschoorn Moisés Martínez-Velázquez Marta Martinez-Vicente Waleska Kerllen Martins Hirosato Mashima James A Mastrianni Giuseppe Matarese Paola Matarrese Roberto Mateo Satoaki Matoba Naomichi Matsumoto Takehiko Matsushita Akira Matsuura Takeshi Matsuzawa Mark P Mattson Soledad Matus Norma Maugeri Caroline Mauvezin Andreas Mayer Dusica Maysinger Guillermo D Mazzolini Mary Kate McBrayer Kimberly McCall Craig McCormick Gerald M McInerney Skye C McIver Sharon McKenna John J McMahon Iain A McNeish Fatima Mechta-Grigoriou Jan Paul Medema Diego L Medina Klara Megyeri Maryam Mehrpour Jawahar L Mehta Yide Mei Ute-Christiane Meier Alfred J Meijer Alicia Meléndez Gerry Melino Sonia Melino Edesio Jose Tenorio de Melo Maria A Mena Marc D Meneghini Javier A Menendez Regina Menezes Liesu Meng Ling-Hua Meng Songshu Meng Rossella Menghini A Sue Menko Rubem Fs Menna-Barreto Manoj B Menon Marco A Meraz-Ríos Giuseppe Merla Luciano Merlini Angelica M Merlot Andreas Meryk Stefania Meschini Joel N Meyer Man-Tian Mi Chao-Yu Miao Lucia Micale Simon Michaeli Carine Michiels Anna Rita Migliaccio Anastasia Susie Mihailidou Dalibor Mijaljica Katsuhiko Mikoshiba Enrico Milan Leonor Miller-Fleming Gordon B Mills Ian G Mills Georgia Minakaki Berge A Minassian Xiu-Fen Ming Farida Minibayeva Elena A Minina Justine D Mintern Saverio Minucci Antonio Miranda-Vizuete Claire H Mitchell Shigeki Miyamoto Keisuke Miyazawa Noboru Mizushima Katarzyna Mnich Baharia Mograbi Simin Mohseni Luis Ferreira Moita Marco Molinari Maurizio Molinari Andreas Buch Møller Bertrand Mollereau Faustino Mollinedo Marco Mongillo Martha M Monick Serena Montagnaro Craig Montell Darren J Moore Michael N Moore Rodrigo Mora-Rodriguez Paula I Moreira Etienne Morel Maria Beatrice Morelli Sandra Moreno Michael J Morgan Arnaud Moris Yuji Moriyasu Janna L Morrison Lynda A Morrison Eugenia Morselli Jorge Moscat Pope L Moseley Serge Mostowy Elisa Motori Denis Mottet Jeremy C Mottram Charbel E-H Moussa Vassiliki E Mpakou Hasan Mukhtar Jean M Mulcahy Levy Sylviane Muller Raquel Muñoz-Moreno Cristina Muñoz-Pinedo Christian Münz Maureen E Murphy James T Murray Aditya Murthy Indira U Mysorekar Ivan R Nabi Massimo Nabissi Gustavo A Nader Yukitoshi Nagahara Yoshitaka Nagai Kazuhiro Nagata Anika Nagelkerke Péter Nagy Samisubbu R Naidu Sreejayan Nair Hiroyasu Nakano Hitoshi Nakatogawa Meera Nanjundan Gennaro Napolitano Naweed I Naqvi Roberta Nardacci Derek P Narendra Masashi Narita Anna Chiara Nascimbeni Ramesh Natarajan Luiz C Navegantes Steffan T Nawrocki Taras Y Nazarko Volodymyr Y Nazarko Thomas Neill Luca M Neri Mihai G Netea Romana T Netea-Maier Bruno M Neves Paul A Ney Ioannis P Nezis Hang Tt Nguyen Huu Phuc Nguyen Anne-Sophie Nicot Hilde Nilsen Per Nilsson Mikio Nishimura Ichizo Nishino Mireia Niso-Santano Hua Niu Ralph A Nixon Vincent Co Njar Takeshi Noda Angelika A Noegel Elsie Magdalena Nolte Erik Norberg Koenraad K Norga Sakineh Kazemi Noureini Shoji Notomi Lucia Notterpek Karin Nowikovsky Nobuyuki Nukina Thorsten Nürnberger Valerie B O'Donnell Tracey O'Donovan Peter J O'Dwyer Ina Oehme Clara L Oeste Michinaga Ogawa Besim Ogretmen Yuji Ogura Young J Oh Masaki Ohmuraya Takayuki Ohshima Rani Ojha Koji Okamoto Toshiro Okazaki F Javier Oliver Karin Ollinger Stefan Olsson Daniel P Orban Paulina Ordonez Idil Orhon Laszlo Orosz Eyleen J O'Rourke Helena Orozco Angel L Ortega Elena Ortona Laura D Osellame Junko Oshima Shigeru Oshima Heinz D Osiewacz Takanobu Otomo Kinya Otsu Jing-Hsiung James Ou Tiago F Outeiro Dong-Yun Ouyang Hongjiao Ouyang Michael Overholtzer Michelle A Ozbun P Hande Ozdinler Bulent Ozpolat Consiglia Pacelli Paolo Paganetti Guylène Page Gilles Pages Ugo Pagnini Beata Pajak Stephen C Pak Karolina Pakos-Zebrucka Nazzy Pakpour Zdena Palková Francesca Palladino Kathrin Pallauf Nicolas Pallet Marta Palmieri Søren R Paludan Camilla Palumbo Silvia Palumbo Olatz Pampliega Hongming Pan Wei Pan Theocharis Panaretakis Aseem Pandey Areti Pantazopoulou Zuzana Papackova Daniela L Papademetrio Issidora Papassideri Alessio Papini Nirmala Parajuli Julian Pardo Vrajesh V Parekh Giancarlo Parenti Jong-In Park Junsoo Park Ohkmae K Park Roy Parker Rosanna Parlato Jan B Parys Katherine R Parzych Jean-Max Pasquet Benoit Pasquier Kishore Bs Pasumarthi Daniel Patschan Cam Patterson Sophie Pattingre Scott Pattison Arnim Pause Hermann Pavenstädt Flaminia Pavone Zully Pedrozo Fernando J Peña Miguel A Peñalva Mario Pende Jianxin Peng Fabio Penna Josef M Penninger Anna Pensalfini Salvatore Pepe Gustavo Js Pereira Paulo C Pereira Verónica Pérez-de la Cruz María Esther Pérez-Pérez Diego Pérez-Rodríguez Dolores Pérez-Sala Celine Perier Andras Perl David H Perlmutter Ida Perrotta Shazib Pervaiz Maija Pesonen Jeffrey E Pessin Godefridus J Peters Morten Petersen Irina Petrache Basil J Petrof Goran Petrovski James M Phang Mauro Piacentini Marina Pierdominici Philippe Pierre Valérie Pierrefite-Carle Federico Pietrocola Felipe X Pimentel-Muiños Mario Pinar Benjamin Pineda Ronit Pinkas-Kramarski Marcello Pinti Paolo Pinton Bilal Piperdi James M Piret Leonidas C Platanias Harald W Platta Edward D Plowey Stefanie Pöggeler Marc Poirot Peter Polčic Angelo Poletti Audrey H Poon Hana Popelka Blagovesta Popova Izabela Poprawa Shibu M Poulose Joanna Poulton Scott K Powers Ted Powers Mercedes Pozuelo-Rubio Krisna Prak Reinhild Prange Mark Prescott Muriel Priault Sharon Prince Richard L Proia Tassula Proikas-Cezanne Holger Prokisch Vasilis J Promponas Karin Przyklenk Rosa Puertollano Subbiah Pugazhenthi Luigi Puglielli Aurora Pujol Julien Puyal Dohun Pyeon Xin Qi Wen-Bin Qian Zheng-Hong Qin Yu Qiu Ziwei Qu Joe Quadrilatero Frederick Quinn Nina Raben Hannah Rabinowich Flavia Radogna Michael J Ragusa Mohamed Rahmani Komal Raina Sasanka Ramanadham Rajagopal Ramesh Abdelhaq Rami Sarron Randall-Demllo Felix Randow Hai Rao V Ashutosh Rao Blake B Rasmussen Tobias M Rasse Edward A Ratovitski Pierre-Emmanuel Rautou Swapan K Ray Babak Razani Bruce H Reed Fulvio Reggiori Markus Rehm Andreas S Reichert Theo Rein David J Reiner Eric Reits Jun Ren Xingcong Ren Maurizio Renna Jane Eb Reusch Jose L Revuelta Leticia Reyes Alireza R Rezaie Robert I Richards Des R Richardson Clémence Richetta Michael A Riehle Bertrand H Rihn Yasuko Rikihisa Brigit E Riley Gerald Rimbach Maria Rita Rippo Konstantinos Ritis Federica Rizzi Elizete Rizzo Peter J Roach Jeffrey Robbins Michel Roberge Gabriela Roca Maria Carmela Roccheri Sonia Rocha Cecilia Mp Rodrigues Clara I Rodríguez Santiago Rodriguez de Cordoba Natalia Rodriguez-Muela Jeroen Roelofs Vladimir V Rogov Troy T Rohn Bärbel Rohrer Davide Romanelli Luigina Romani Patricia Silvia Romano M Isabel G Roncero Jose Luis Rosa Alicia Rosello Kirill V Rosen Philip Rosenstiel Magdalena Rost-Roszkowska Kevin A Roth Gael Roué Mustapha Rouis Kasper M Rouschop Daniel T Ruan Diego Ruano David C Rubinsztein Edmund B Rucker Assaf Rudich Emil Rudolf Ruediger Rudolf Markus A Ruegg Carmen Ruiz-Roldan Avnika Ashok Ruparelia Paola Rusmini David W Russ Gian Luigi Russo Giuseppe Russo Rossella Russo Tor Erik Rusten Victoria Ryabovol Kevin M Ryan Stefan W Ryter David M Sabatini Michael Sacher Carsten Sachse Michael N Sack Junichi Sadoshima Paul Saftig Ronit Sagi-Eisenberg Sumit Sahni Pothana Saikumar Tsunenori Saito Tatsuya Saitoh Koichi Sakakura Machiko Sakoh-Nakatogawa Yasuhito Sakuraba María Salazar-Roa Paolo Salomoni Ashok K Saluja Paul M Salvaterra Rosa Salvioli Afshin Samali Anthony Mj Sanchez José A Sánchez-Alcázar Ricardo Sanchez-Prieto Marco Sandri Miguel A Sanjuan Stefano Santaguida Laura Santambrogio Giorgio Santoni Claudia Nunes Dos Santos Shweta Saran Marco Sardiello Graeme Sargent Pallabi Sarkar Sovan Sarkar Maria Rosa Sarrias Minnie M Sarwal Chihiro Sasakawa Motoko Sasaki Miklos Sass Ken Sato Miyuki Sato Joseph Satriano Niramol Savaraj Svetlana Saveljeva Liliana Schaefer Ulrich E Schaible Michael Scharl Hermann M Schatzl Randy Schekman Wiep Scheper Alfonso Schiavi Hyman M Schipper Hana Schmeisser Jens Schmidt Ingo Schmitz Bianca E Schneider E Marion Schneider Jaime L Schneider Eric A Schon Miriam J Schönenberger Axel H Schönthal Daniel F Schorderet Bernd Schröder Sebastian Schuck Ryan J Schulze Melanie Schwarten Thomas L Schwarz Sebastiano Sciarretta Kathleen Scotto A Ivana Scovassi Robert A Screaton Mark Screen Hugo Seca Simon Sedej Laura Segatori Nava Segev Per O Seglen Jose M Seguí-Simarro Juan Segura-Aguilar Ekihiro Seki Christian Sell Iban Seiliez Clay F Semenkovich Gregg L Semenza Utpal Sen Andreas L Serra Ana Serrano-Puebla Hiromi Sesaki Takao Setoguchi Carmine Settembre John J Shacka Ayesha N Shajahan-Haq Irving M Shapiro Shweta Sharma Hua She C-K James Shen Chiung-Chyi Shen Han-Ming Shen Sanbing Shen Weili Shen Rui Sheng Xianyong Sheng Zu-Hang Sheng Trevor G Shepherd Junyan Shi Qiang Shi Qinghua Shi Yuguang Shi Shusaku Shibutani Kenichi Shibuya Yoshihiro Shidoji Jeng-Jer Shieh Chwen-Ming Shih Yohta Shimada Shigeomi Shimizu Dong Wook Shin Mari L Shinohara Michiko Shintani Takahiro Shintani Tetsuo Shioi Ken Shirabe Ronit Shiri-Sverdlov Orian Shirihai Gordon C Shore Chih-Wen Shu Deepak Shukla Andriy A Sibirny Valentina Sica Christina J Sigurdson Einar M Sigurdsson Puran Singh Sijwali Beata Sikorska Wilian A Silveira Sandrine Silvente-Poirot Gary A Silverman Jan Simak Thomas Simmet Anna Katharina Simon Hans-Uwe Simon Cristiano Simone Matias Simons Anne Simonsen Rajat Singh Shivendra V Singh Shrawan K Singh Debasish Sinha Sangita Sinha Frank A Sinicrope Agnieszka Sirko Kapil Sirohi Balindiwe Jn Sishi Annie Sittler Parco M Siu Efthimios Sivridis Anna Skwarska Ruth Slack Iva Slaninová Nikolai Slavov Soraya S Smaili Keiran Sm Smalley Duncan R Smith Stefaan J Soenen Scott A Soleimanpour Anita Solhaug Kumaravel Somasundaram Jin H Son Avinash Sonawane Chunjuan Song Fuyong Song Hyun Kyu Song Ju-Xian Song Wei Song Kai Y Soo Anil K Sood Tuck Wah Soong Virawudh Soontornniyomkij Maurizio Sorice Federica Sotgia David R Soto-Pantoja Areechun Sotthibundhu Maria João Sousa Herman P Spaink Paul N Span Anne Spang Janet D Sparks Peter G Speck Stephen A Spector Claudia D Spies Wolfdieter Springer Daret St Clair Alessandra Stacchiotti Bart Staels Michael T Stang Daniel T Starczynowski Petro Starokadomskyy Clemens Steegborn John W Steele Leonidas Stefanis Joan Steffan Christine M Stellrecht Harald Stenmark Tomasz M Stepkowski Stęphan T Stern Craig Stevens Brent R Stockwell Veronika Stoka Zuzana Storchova Björn Stork Vassilis Stratoulias Dimitrios J Stravopodis Pavel Strnad Anne Marie Strohecker Anna-Lena Ström Per Stromhaug Jiri Stulik Yu-Xiong Su Zhaoliang Su Carlos S Subauste Srinivasa Subramaniam Carolyn M Sue Sang Won Suh Xinbing Sui Supawadee Sukseree David Sulzer Fang-Lin Sun Jiaren Sun Jun Sun Shi-Yong Sun Yang Sun Yi Sun Yingjie Sun Vinod Sundaramoorthy Joseph Sung Hidekazu Suzuki Kuninori Suzuki Naoki Suzuki Tadashi Suzuki Yuichiro J Suzuki Michele S Swanson Charles Swanton Karl Swärd Ghanshyam Swarup Sean T Sweeney Paul W Sylvester Zsuzsanna Szatmari Eva Szegezdi Peter W Szlosarek Heinrich Taegtmeyer Marco Tafani Emmanuel Taillebourg Stephen Wg Tait Krisztina Takacs-Vellai Yoshinori Takahashi Szabolcs Takáts Genzou Takemura Nagio Takigawa Nicholas J Talbot Elena Tamagno Jerome Tamburini Cai-Ping Tan Lan Tan Mei Lan Tan Ming Tan Yee-Joo Tan Keiji Tanaka Masaki Tanaka Daolin Tang Dingzhong Tang Guomei Tang Isei Tanida Kunikazu Tanji Bakhos A Tannous Jose A Tapia Inmaculada Tasset-Cuevas Marc Tatar Iman Tavassoly Nektarios Tavernarakis Allen Taylor Graham S Taylor Gregory A Taylor J Paul Taylor Mark J Taylor Elena V Tchetina Andrew R Tee Fatima Teixeira-Clerc Sucheta Telang Tewin Tencomnao Ba-Bie Teng Ru-Jeng Teng Faraj Terro Gianluca Tettamanti Arianne L Theiss Anne E Theron Kelly Jean Thomas Marcos P Thomé Paul G Thomes Andrew Thorburn Jeremy Thorner Thomas Thum Michael Thumm Teresa Lm Thurston Ling Tian Andreas Till Jenny Pan-Yun Ting Vladimir I Titorenko Lilach Toker Stefano Toldo Sharon A Tooze Ivan Topisirovic Maria Lyngaas Torgersen Liliana Torosantucci Alicia Torriglia Maria Rosaria Torrisi Cathy Tournier Roberto Towns Vladimir Trajkovic Leonardo H Travassos Gemma Triola Durga Nand Tripathi Daniela Trisciuoglio Rodrigo Troncoso Ioannis P Trougakos Anita C Truttmann Kuen-Jer Tsai Mario P Tschan Yi-Hsin Tseng Takayuki Tsukuba Allan Tsung Andrey S Tsvetkov Shuiping Tu Hsing-Yu Tuan Marco Tucci David A Tumbarello Boris Turk Vito Turk Robin Fb Turner Anders A Tveita Suresh C Tyagi Makoto Ubukata Yasuo Uchiyama Andrej Udelnow Takashi Ueno Midori Umekawa Rika Umemiya-Shirafuji Benjamin R Underwood Christian Ungermann Rodrigo P Ureshino Ryo Ushioda Vladimir N Uversky Néstor L Uzcátegui Thomas Vaccari Maria I Vaccaro Libuše Váchová Helin Vakifahmetoglu-Norberg Rut Valdor Enza Maria Valente Francois Vallette Angela M Valverde Greet Van den Berghe Ludo Van Den Bosch Gijs R van den Brink F Gisou van der Goot Ida J van der Klei Luc Jw van der Laan Wouter G van Doorn Marjolein van Egmond Kenneth L van Golen Luc Van Kaer Menno van Lookeren Campagne Peter Vandenabeele Wim Vandenberghe Ilse Vanhorebeek Isabel Varela-Nieto M Helena Vasconcelos Radovan Vasko Demetrios G Vavvas Ignacio Vega-Naredo Guillermo Velasco Athanassios D Velentzas Panagiotis D Velentzas Tibor Vellai Edo Vellenga Mikkel Holm Vendelbo Kartik Venkatachalam Natascia Ventura Salvador Ventura Patrícia St Veras Mireille Verdier Beata G Vertessy Andrea Viale Michel Vidal Helena L A Vieira Richard D Vierstra Nadarajah Vigneswaran Neeraj Vij Miquel Vila Margarita Villar Victor H Villar Joan Villarroya Cécile Vindis Giampietro Viola Maria Teresa Viscomi Giovanni Vitale Dan T Vogl Olga V Voitsekhovskaja Clarissa von Haefen Karin von Schwarzenberg Daniel E Voth Valérie Vouret-Craviari Kristina Vuori Jatin M Vyas Christian Waeber Cheryl Lyn Walker Mark J Walker Jochen Walter Lei Wan Xiangbo Wan Bo Wang Caihong Wang Chao-Yung Wang Chengshu Wang Chenran Wang Chuangui Wang Dong Wang Fen Wang Fuxin Wang Guanghui Wang Hai-Jie Wang Haichao Wang Hong-Gang Wang Hongmin Wang Horng-Dar Wang Jing Wang Junjun Wang Mei Wang Mei-Qing Wang Pei-Yu Wang Peng Wang Richard C Wang Shuo Wang Ting-Fang Wang Xian Wang Xiao-Jia Wang Xiao-Wei Wang Xin Wang Xuejun Wang Yan Wang Yanming Wang Ying Wang Ying-Jan Wang Yipeng Wang Yu Wang Yu Tian Wang Yuqing Wang Zhi-Nong Wang Pablo Wappner Carl Ward Diane McVey Ward Gary Warnes Hirotaka Watada Yoshihisa Watanabe Kei Watase Timothy E Weaver Colin D Weekes Jiwu Wei Thomas Weide Conrad C Weihl Günther Weindl Simone Nardin Weis Longping Wen Xin Wen Yunfei Wen Benedikt Westermann Cornelia M Weyand Anthony R White Eileen White J Lindsay Whitton Alexander J Whitworth Joëlle Wiels Franziska Wild Manon E Wildenberg Tom Wileman Deepti Srinivas Wilkinson Simon Wilkinson Dieter Willbold Chris Williams Katherine Williams Peter R Williamson Konstanze F Winklhofer Steven S Witkin Stephanie E Wohlgemuth Thomas Wollert Ernst J Wolvetang Esther Wong G William Wong Richard W Wong Vincent Kam Wai Wong Elizabeth A Woodcock Karen L 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Zhuang Elio Ziparo Christos E Zois Teresa Zoladek Wei-Xing Zong Antonio Zorzano Susu M Zughaier

Autophagy 2016 ;12(1):1-222

kb Emory University, School of Medicine , Department of Microbiology and Immunology , Atlanta , GA , USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4835977PMC
October 2016

The Contursi Family 20 Years Later: Intrafamilial Phenotypic Variability of the SNCA p.A53T Mutation.

Mov Disord 2016 Feb 22;31(2):257-8. Epub 2016 Jan 22.

Morton and Gloria Shulman Movement Disorders Center and the Edmond J. Safra Program in Parkinson's Disease, Toronto Western Hospital, University Health Network, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/mds.26549DOI Listing
February 2016

Cognitive rehabilitation in a child with Joubert Syndrome: Developmental trends and adaptive changes in a single case report.

Res Dev Disabil 2015 Dec 23;47:375-84. Epub 2015 Oct 23.

Neuropsychiatry and Neurorehabilitation Unit, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy.

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http://dx.doi.org/10.1016/j.ridd.2015.09.013DOI Listing
December 2015

Phenotypic spectrum of alpha-synuclein mutations: New insights from patients and cellular models.

Parkinsonism Relat Disord 2016 Jan 18;22 Suppl 1:S16-20. Epub 2015 Aug 18.

CSS-Mendel Institute, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy; Section of Neurosciences, Department of Medicine and Surgery, University of Salerno, Salerno, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2015.08.015DOI Listing
January 2016

Candidate genes for Parkinson disease: Lessons from pathogenesis.

Clin Chim Acta 2015 Sep 3;449:68-76. Epub 2015 Jun 3.

IRCCS Casa Sollievo della Sofferenza, CSS-Mendel Institute, San Giovanni Rotondo, Italy; Section of Neurosciences, Dept. of Medicine and Surgery, University of Salerno, Salerno, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.cca.2015.04.042DOI Listing
September 2015

A rare case of cerebellar agenesis: a probabilistic Constrained Spherical Deconvolution tractographic study.

Brain Imaging Behav 2016 Mar;10(1):158-67

Neuroradiology Unit - Department of Biomedical Sciences and Morpho-Functional Imaging, University of Messina, via Consolare Valeria, 1 A.O.U. Policlinico "G. Martino", 98125, Messina, Italy.

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http://dx.doi.org/10.1007/s11682-015-9377-5DOI Listing
March 2016

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Authors:
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Am J Med Genet A 2015 Feb 16;167A(2):296-312. Epub 2015 Jan 16.

INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes - Sorbonne Paris Cité University, Institut Imagine, Hôpital Necker, Paris, France; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1002/ajmg.a.36887DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4382202PMC
February 2015

Phenotypic variability of PINK1 expression: 12 Years' clinical follow-up of two Italian families.

Mov Disord 2014 Oct 27;29(12):1561-6. Epub 2014 Aug 27.

Institute of Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.

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http://dx.doi.org/10.1002/mds.25994DOI Listing
October 2014

The molar tooth sign is pathognomonic for Joubert syndrome!

Pediatr Neurol 2014 Jun 14;50(6):e15-6. Epub 2013 Nov 14.

Mendel Laboratory, IRCCS Casa Sollievo della Sofferenza Institute, San Giovanni Rotondo, Italy; Department of Medicine and Surgery, University of Salerno, Salerno, Italy.

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http://dx.doi.org/10.1016/j.pediatrneurol.2013.11.003DOI Listing
June 2014

A novel mutation in the endosomal Na+/H+ exchanger NHE6 (SLC9A6) causes Christianson syndrome with electrical status epilepticus during slow-wave sleep (ESES).

Epilepsy Res 2014 May 19;108(4):811-5. Epub 2014 Feb 19.

Unit of Molecular Medicine for Neuromuscular and Neurodegenerative disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1016/j.eplepsyres.2014.02.009DOI Listing
May 2014

Primary cilia in neurodevelopmental disorders.

Nat Rev Neurol 2014 Jan 3;10(1):27-36. Epub 2013 Dec 3.

Neurogenetics Laboratory, Howard Hughes Medical Institute, Department of Neurosciences and Pediatrics, Rady Children's Hospital, University of California, San Diego, 9500 Silman Drive, La Jolla, CA 92093, USA.

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http://www.nature.com/articles/nrneurol.2013.247
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http://dx.doi.org/10.1038/nrneurol.2013.247DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3989897PMC
January 2014

Joubert syndrome: congenital cerebellar ataxia with the molar tooth.

Lancet Neurol 2013 Sep 17;12(9):894-905. Epub 2013 Jul 17.

Neurogenetics Unit, Mendel Laboratory, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy; Department of Medicine and Surgery, University of Salerno, Salerno, Italy. Electronic address:

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http://dx.doi.org/10.1016/S1474-4422(13)70136-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3809058PMC
September 2013