Filippo M Santorelli

Filippo M Santorelli

UNVERIFIED PROFILE

Are you Filippo M Santorelli?   Register this Author

Register author
Filippo M Santorelli

Filippo M Santorelli

Publications by authors named "Filippo M Santorelli"

Are you Filippo M Santorelli?   Register this Author

100Publications

2341Reads

24Profile Views

Next-generation sequencing approach to hyperCKemia: A 2-year cohort study.

Neurol Genet 2019 Oct 16;5(5):e352. Epub 2019 Aug 16.

IRCCS Fondazione Stella Maris (A.R., G.A., J.B., G.B., S.L., F.M.S., D.C.), Pisa, Italy; Department of Medicine (A.M., C.B., M.T.D., A.F., F.G., S.S., N.V.), Surgery and Neurosciences, University of Siena; Department of Clinical and Experimental Medicine (C.D., G.S., D.T.), University of Pisa; Metabolic Disease Unit (M.A.D., M.S.), AOU Meyer Children Hospital, Florence; Department of Molecular and Developmental Medicine (S.G.), University of Siena, Siena; Pediatric Neurology (R.G., F.M.), AOU Meyer Children Hospital, Florence; Neurophysiopathology Multiple Sclerosis Center Hospital Binaghi (M.A.M.), Cagliari; Pediatric Neurology and Nemo Clinical Centre (E.M.), Fondazione Policlinico Universitario "A. Gemelli IRCSS", Università Cattolica del Sacro Cuore, Rome; and Department of Neurosciences (P.T.), Biomedicine and Movement Sciences, University of Verona, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/NXG.0000000000000352DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6705647PMC
October 2019

Intrafamilial "DOA-plus" phenotype variability related to different OMI/HTRA2 expression.

Am J Med Genet A 2019 Oct 14. Epub 2019 Oct 14.

Department of Advanced Medical and Surgical Sciences, 2nd Division of Neurology, Center for Rare Diseases and Inter University Center for Research in Neurosciences, University of Campania "Luigi Vanvitelli", Naples, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.61381DOI Listing
October 2019

Complex multisystem phenotype associated with the mitochondrial DNA m.5522G>A mutation.

Neurol Sci 2019 Aug 1;40(8):1705-1708. Epub 2019 Apr 1.

Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foundation, via dei Giacinti 2, 56128, Pisa, Italy.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s10072-019-03864-w
Publisher Site
http://dx.doi.org/10.1007/s10072-019-03864-wDOI Listing
August 2019

The features of the m.10197G>A mtDNA mutation.

J Neurol Sci 2019 05 4;400:184-185. Epub 2019 Apr 4.

IRCCS Fondazione Stella Maris, viale del Tirreno 331, 56128 Calambrone, Pisa, Italy. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jns.2019.04.005DOI Listing
May 2019

Fishing in the Cell Powerhouse: Zebrafish as A Tool for Exploration of Mitochondrial Defects Affecting the Nervous System.

Int J Mol Sci 2019 May 15;20(10). Epub 2019 May 15.

Department of Basic Medical Sciences, Neurosciences and Sense Organs, University of Bari 'Aldo Moro', Piazza Giulio Cesare 11, 70124 Bari, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/ijms20102409DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6567007PMC
May 2019

Autophagic vacuolar myopathy caused by a CLN3 mutation. A case report.

Neuromuscul Disord 2019 01 22;29(1):67-69. Epub 2018 Nov 22.

Molecular Medicine, IRCCS Fondazione Stella Maris, via dei Giacinti 2, Pisa 56128, Italy. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2018.11.006DOI Listing
January 2019

Teaching NeuroImages: Leigh-like features expand the picture of -related disorders.

Neurology 2019 01;92(2):e168-e169

From Molecular Medicine & Neurogenetics (A.R., C.D., F.M.S., C.N.), Neuroradiology (R.P., R.C.), and Child Neurology (G.A.), IRCCS Fondazione Stella Maris, Pisa, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000006740DOI Listing
January 2019

Relapsing-Remitting Course of Cystic Leukoencephalopathy.

Pediatr Neurol 2018 12 24;89:63-65. Epub 2018 Aug 24.

Molecular Medicine and Neurogenetics, IRCCS Stella Maris, Pisa, Italy. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.pediatrneurol.2018.08.021DOI Listing
December 2018

Spinocerebellar Ataxia Type 3 in Italy: Time to Change Mind.

Neuroepidemiology 2016 19;46(4):268. Epub 2016 Mar 19.

Department of Medico-Surgical Sciences and Biotechnologies, Rome Sapienza University, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000444642DOI Listing
March 2018

Understanding Spreading Depression from Headache to Sudden Unexpected Death.

Front Neurol 2018 1;9:19. Epub 2018 Feb 1.

Molecular Medicine and Clinical Neurophysiology Laboratories, Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Pisa, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fneur.2018.00019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5799941PMC
February 2018

Clinical application of next generation sequencing in hereditary spinocerebellar ataxia: increasing the diagnostic yield and broadening the ataxia-spasticity spectrum. A retrospective analysis.

Neurogenetics 2018 01 6;19(1):1-8. Epub 2017 Dec 6.

Molecular Medicine, IRCCS Fondazione Stella Maris, via dei Giacinti 2, 56128, Pisa, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10048-017-0532-6DOI Listing
January 2018

Response to the letter to the Editor regarding "Leigh-like neuroimaging features associated with new bi-allelic mutations in OPA1".

Eur J Paediatr Neurol 2017 11 8;21(6):923. Epub 2017 Aug 8.

Molecular Medicine, IRCCS Stella Maris, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejpn.2017.06.005DOI Listing
November 2017

A Child With Ichthyosis and Liver Failure.

J Pediatr Gastroenterol Nutr 2017 09;65(3):e70-e73

*Paediatric and Liver Unit, Meyer Children's University Hospital of Florence, Florence †Laboratory of Medical Genetics, Papa Giovanni XXIII Hospital, Bergamo ‡Department of Health Science, University of Florence, Florence §Molecular Medicine and Neurogenetics, IRCCS Stella Maris, Pisa ||Metabolic and Muscular Unit ¶Pathology Unit, Meyer Children's University Hospital of Florence, Florence, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MPG.0000000000001645DOI Listing
September 2017

Phenotype and natural history of variant late infantile ceroid-lipofuscinosis 5.

Dev Med Child Neurol 2017 08 25;59(8):815-821. Epub 2017 May 25.

Molecular Medicine Unit and Child Neurology, IRCCS Fondazione Stella Maris, Pisa, Italy.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/dmcn.13473
Publisher Site
http://dx.doi.org/10.1111/dmcn.13473DOI Listing
August 2017

Possible Involvement of the CACNA1E Gene in Migraine: A Search for Single Nucleotide Polymorphism in Different Clinical Phenotypes.

Headache 2017 Jul 1;57(7):1136-1144. Epub 2017 Jun 1.

Headache Research Unit, Citadelle Hospital, University of Liège, Liège, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/head.13107DOI Listing
July 2017

Fast Progression of Cerebellar Atrophy in PLA2G6-Associated Infantile Neuronal Axonal Dystrophy.

Cerebellum 2017 06;16(3):742-745

Neurology Unit and Laboratories, Meyer Children's Hospital, University of Florence, Florence, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s12311-017-0843-zDOI Listing
June 2017

Loss of spatacsin function alters lysosomal lipid clearance leading to upper and lower motor neuron degeneration.

Neurobiol Dis 2017 Jun 22;102:21-37. Epub 2017 Feb 22.

Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris, France; Inserm, U1127, F-75013 Paris, France; CNRS, UMR 7225, F-75013 Paris, France; Institut du Cerveau et de la Moelle épinière, ICM, F-75013 Paris, France. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nbd.2017.02.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5391847PMC
June 2017

Novel mutations in provide clues to the pathomechanisms of HSAN-VI.

Neurology 2017 May 3;88(22):2132-2140. Epub 2017 May 3.

From the Departments of Neurosciences, Reproductive Sciences, and Odontostomatology (F.M., C.P., S.T., L.S.) and Department of Molecular Medicine and Medical Biotechnologies (S. Parisi, S. Paladino, T.R.), University of Naples "Federico II"; Neurology Department (M.N., V.P.), "Salvatore Maugeri" Foundation IRCCS-Medical Center of Telese, Telese Terme, Italy; Department of Human Genetics and Hussman Institute for Human Genomics (F.T., A.P.R., S.Z.), Miller School of Medicine, University of Miami, FL; Molecular Medicine Laboratory (C.N., F.M.S.), Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Pisa, Italy; and Department of Neurology (M.E.S.), University of Iowa Carver College of Medicine, Iowa City.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000003992DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5447400PMC
May 2017

SPG2 mimicking multiple sclerosis in a family identified using next generation sequencing.

J Neurol Sci 2017 Apr 27;375:198-202. Epub 2017 Jan 27.

Unit of Neurology and Neurometabolic Disorders, Department of Medicine, Surgery and Neurosciences, University of Siena, Italy, Azienda Ospedaliera Universitaria Senese, Siena. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jns.2017.01.069DOI Listing
April 2017

Mutations in GMPPB Presenting with Pseudometabolic Myopathy.

JIMD Rep 2018 30;38:23-31. Epub 2017 Apr 30.

Center of Myology and Neurodegenerative Disorders, Department of Neuroscience and Rehabilitation, Istituto Giannina Gaslini, Genoa, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/8904_2017_25DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5874214PMC
April 2017

Cerium oxide nanoparticles: the regenerative redox machine in bioenergetic imbalance.

Nanomedicine (Lond) 2017 02 21;12(4):403-416. Epub 2016 Dec 21.

Istituto Italiano di Tecnologia, Center for Micro-BioRobotics @SSSA, Viale Rinaldo Piaggio 34, 56025 Pontedera (Pisa), Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2217/nnm-2016-0342DOI Listing
February 2017

A series of Greek children with pure hereditary spastic paraplegia: clinical features and genetic findings.

J Neurol 2016 Aug 3;263(8):1604-11. Epub 2016 Jun 3.

First Department of Pediatrics, Aghia Sophia Children's Hospital, University of Athens, Thivon and Micras Asias, 11527, Athens, Greece.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00415-016-8179-zDOI Listing
August 2016

Dolichol-phosphate mannose synthase depletion in zebrafish leads to dystrophic muscle with hypoglycosylated α-dystroglycan.

Biochem Biophys Res Commun 2016 08 10;477(1):137-143. Epub 2016 Jun 10.

Molecular Medicine, IRCCS Stella Maris, Via dei Giacinti 2, 56128, Pisa, Italy. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bbrc.2016.06.033DOI Listing
August 2016

Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions.

Brain 2016 06 25;139(Pt 6):1723-34. Epub 2016 Mar 25.

1 Ecole Pratique des Hautes Etudes, EPHE, PSL université, laboratoire de neurogénétique, F-75013, Paris, France 2 Inserm, U1127, F-75013, Paris, France 3 CNRS, UMR7225, F-75013, Paris, France 4 Sorbonne Universités, UPMC Univ Paris 06, UMR_S1127, Institut du Cerveau et de la Moelle épinière - ICM, Pitié-Salpêtrière Hospital, F-75013, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/brain/aww061DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5839621PMC
June 2016

Reply to: Double trouble progressive external ophthalmoplegia and Huntington's disease.

Mol Genet Metab Rep 2016 Jun 17;7:93. Epub 2016 May 17.

Unit of Molecular Medicine, IRCCS Stella Maris, Pisa, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgmr.2016.05.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4901168PMC
June 2016

Early infantile neuronal ceroid lipofuscinosis (CLN10 disease) associated with a novel mutation in CTSD.

J Neurol 2016 May 12;263(5):1029-1032. Epub 2016 Apr 12.

Neurology-Child Neurology and Psychiatry, Department of Neuroscience, Biomedicine and Movement, University of Verona, Policlinico GB Rossi, P.le LA Scuro, 37134, Verona, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00415-016-8111-6DOI Listing
May 2016

Targeted Gene Resequencing (Astrochip) to Explore the Tripartite Synapse in Autism-Epilepsy Phenotype with Macrocephaly.

Neuromolecular Med 2016 Mar 4;18(1):69-80. Epub 2015 Nov 4.

Molecular Medicine, IRCCS Stella Maris Foundation, Viale del Tirreno 331, via dei Giacinti 2, 56128, Calambrone, Pisa, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s12017-015-8378-2DOI Listing
March 2016

A novel mitochondrial tRNA(Ala) gene variant causes chronic progressive external ophthalmoplegia in a patient with Huntington disease.

Mol Genet Metab Rep 2016 Mar 27;6:70-3. Epub 2016 Feb 27.

Clinical Neurology, Section for Neuromuscular Diseases and Neuropathies, University Hospital "Spedali Civili", Brescia, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgmr.2016.02.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4789388PMC
March 2016

Molecular genotype in migraine.

J Headache Pain 2015 Dec;16(Suppl 1):A30

Molecular Medicine, IRCCS Stella Maris, Pisa, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1129-2377-16-S1-A30DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4759105PMC
December 2015

Heterologous Expression in Yeast of Human Ornithine Carriers ORNT1 and ORNT2 and of ORNT1 Alleles Implicated in HHH Syndrome in Humans.

JIMD Rep 2016 21;28:119-126. Epub 2015 Nov 21.

Clinical genetics Unit, Department of Woman and Child Health, University of Padova, Via Giustiniani 3, 35128, Padova, Italy.

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5059204PMC
http://dx.doi.org/10.1007/8904_2015_514DOI Listing
November 2015

Hereditary spastic paraplegia type 11 with a very late onset.

J Neurol 2015 Aug 17;262(8):1987-9. Epub 2015 Jul 17.

Molecular Medicine, IRCCS Stella Maris, Pisa, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00415-015-7854-9DOI Listing
August 2015

De novo mutations in SPG3A: a challenge in differential diagnosis and genetic counselling.

Neurol Sci 2015 Jun 31;36(6):1063-4. Epub 2015 Jan 31.

Department of Medical-Surgical Sciences and Biotechnologies, Polo Pontino-Sapienza University of Rome, Latina, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10072-015-2097-1DOI Listing
June 2015

Acitretin-responsive ichthyosis in Chanarin-Dorfman syndrome with a novel mutation in the ABHD5/CGI-58 gene.

Pediatr Dermatol 2014 Sep-Oct;31(5):612-4. Epub 2013 Jun 12.

Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research, Pondicherry, India.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/pde.12170DOI Listing
May 2015

Early onset cardiomyopathy associated with the mitochondrial tRNALeu((UUR)) 3271T>C MELAS mutation.

Biochem Biophys Res Commun 2015 Mar 11;458(3):601-604. Epub 2015 Feb 11.

Center of Myology and Neurodegenerative Disorders, Istituto Giannina Gaslini, Genova, Italy. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bbrc.2015.01.157DOI Listing
March 2015

Alpha-1-antitrypsin deficiency: from genoma to liver disease. PiZ mouse as model for the development of liver pathology in human.

Liver Int 2015 Jan 11;35(1):198-206. Epub 2014 Mar 11.

Department of Pathology, Children's Hospital Bambino Gesù, IRCCS, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/liv.12504DOI Listing
January 2015

Infantile-Onset Pompe Disease: The Care Beyond the Cure.

J Neuromuscul Dis 2015;2(s1):S58-S59

Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Calambrone, Italy.

View Article

Download full-text PDF

Source
January 2015

Muscle magnetic resonance imaging and histopathology in ACTA1-related congenital nemaline myopathy.

Muscle Nerve 2014 Dec 30;50(6):1011-6. Epub 2014 Oct 30.

Unidad de Neurología. Departamento de Pediatría, Clínica las Condes, Lo Fontecilla 441, Las Condes, Santiago, Chile.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mus.24353DOI Listing
December 2014

Pseudo-dominant inheritance of a novel CTSF mutation associated with type B Kufs disease.

Neurology 2014 Nov 1;83(19):1769-70. Epub 2014 Oct 1.

From Sapienza University of Rome (R.D.F., C.C., F. Pierelli), Latina; IRCCS Stella Maris (F.M., S.D., F.M.S.), Pisa; ASL Fondi (LT) (L.P.); University of Verona (M.C.M., F. Pezzini, A.S.); and IRCCS Neuromed (F. Pierelli), Pozzilli (IS), Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000000953DOI Listing
November 2014

Spinocerebellar ataxia type 10 in Peru: the missing link in the Amerindian origin of the disease.

J Neurol 2014 Sep 17;261(9):1691-4. Epub 2014 Jun 17.

Department of Medico-Surgical Sciences and Biotechnologies, Sapienza University of Rome, Polo Pontino, Latina, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00415-014-7394-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4221246PMC
September 2014

Clinical, ultrastructural, and molecular studies in a patient with Kufs disease.

Neurol Sci 2014 Apr 26;35(4):605-7. Epub 2013 Nov 26.

IRCCS Stella Maris, Pisa, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10072-013-1587-2DOI Listing
April 2014

Sensory ataxia as a prominent clinical presentation in three families with mutations in CYP7B1.

J Neurol 2014 Apr 12;261(4):747-51. Epub 2014 Feb 12.

Department of Medico-Surgical Sciences and Biotechnologies, "Sapienza" University of Rome, Corso della Repubblica, 79, 04100, Latina, Italy,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00415-014-7247-5DOI Listing
April 2014

Syndromes associated with mitochondrial DNA depletion.

Ital J Pediatr 2014 Apr 3;40:34. Epub 2014 Apr 3.

National Institute of Health, Genetics Department, Research and Development Unit, Porto, Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1824-7288-40-34DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3985578PMC
April 2014

Hereditary spastic paraplegias: one disease for many genes, and still counting.

Handb Clin Neurol 2013 ;113:1899-912

Molecular Medicine and Unit of Neuromuscular and Neurodegenerative Diseases, IRCCS-Children's Hospital Bambino Gesù, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/B978-0-444-59565-2.00060-5DOI Listing
March 2014

Pharmacogenomics of episodic migraine: time has come for a step forward.

Pharmacogenomics 2014 Mar;15(4):541-9

Headache Science Centre, C. Mondino National Institute of Neurology Foundation, IRCCS, Pavia, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2217/pgs.14.20DOI Listing
March 2014

Autism-epilepsy phenotype with macrocephaly suggests PTEN, but not GLIALCAM, genetic screening.

BMC Med Genet 2014 Feb 27;15:26. Epub 2014 Feb 27.

Clinical Neurophysiology Laboratory, IRCCS Stella Maris Foundation, Viale del Tirreno 331, Pisa, Calambrone 56128, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1471-2350-15-26DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3941568PMC
February 2014

The high prevalence of hereditary spastic paraplegia in Sardinia, insular Italy.

J Neurol 2014 Jan 20;261(1):52-9. Epub 2013 Oct 20.

Department of Clinical and Experimental Medicine, University of Sassari, Viale San Pietro 10, Sassari, Italy.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s00415-013-7151-4
Publisher Site
http://dx.doi.org/10.1007/s00415-013-7151-4DOI Listing
January 2014

Novel mutations in the fukutin gene in a boy with asymptomatic hyperCKemia.

Neuromuscul Disord 2013 Dec 1;23(12):1010-5. Epub 2013 Oct 1.

Molecular Medicine and Neuromuscular Lab, IRCCS Stella Maris, Pisa, Italy. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2013.09.010DOI Listing
December 2013

Dopamine-agonist responsive Parkinsonism in a patient with the SANDO syndrome caused by POLG mutation.

BMC Med Genet 2013 Oct 7;14:105. Epub 2013 Oct 7.

Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova and IRCSS Azienda Opedaliera Universitaria San Martino-IST, Largo Daneo 3-16132, Genova, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1471-2350-14-105DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3851930PMC
October 2013

Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome in adulthood: a rare recognizable condition.

Neurol Sci 2013 Sep 18;34(9):1699-701. Epub 2012 Dec 18.

Clinical Neurology, Section for Neuromuscular Diseases and Neuropathies, University Hospital "Spedali Civili", Pz.le Spedali Civili 1, 25100, Brescia, Italy,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10072-012-1266-8DOI Listing
September 2013

Neuromuscular disorders in zebrafish: state of the art and future perspectives.

Neuromolecular Med 2013 Jun 13;15(2):405-19. Epub 2013 Apr 13.

Molecular Medicine, and Neuromuscular Lab, IRCCS Stella Maris, Via dei Giacinti 2, 56128 Pisa, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s12017-013-8228-zDOI Listing
June 2013

Clinical use of frataxin measurement in a patient with a novel deletion in the FXN gene.

J Neurol 2013 Apr 30;260(4):1116-21. Epub 2012 Nov 30.

Department of Neurological Sciences, University Federico II, Via Pansini 5, 80131 Naples, NA, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00415-012-6770-5DOI Listing
April 2013

Reply from the authors.

Hepatol Res 2012 Nov;42(11):1153

Department of Pathology, Children's Hospital Bambino Gesù, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1872-034X.2012.01053.xDOI Listing
November 2012

Migraine headache: a review of the molecular genetics of a common disorder.

J Headache Pain 2012 Oct 1;13(7):571-80. Epub 2012 Sep 1.

Don Carlo Gnocchi Onlus Foundation, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10194-012-0478-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3444547PMC
October 2012