Stephan Züchner

Stephan Züchner

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Stephan Züchner

Stephan Züchner

Publications by authors named "Stephan Züchner"

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98Publications

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Insights into the genotype-phenotype correlation and molecular function of SLC25A46.

Hum Mutat 2018 Dec 17;39(12):1995-2007. Epub 2018 Sep 17.

John P. Hussman Institute for Human Genomics, Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, USA.

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December 2018

Identification of a new SYT2 variant validates an unusual distal motor neuropathy phenotype.

Neurol Genet 2018 Dec 22;4(6):e282. Epub 2018 Oct 22.

Department of Neurology (N.I.M.-C., M.C., C.V., M.A.S.), University of Miami Miller School of Medicine FL; Department of Biology (Z.G., J.T.L.) and Department of Brain and Cognitive Sciences (Z.G., J.T.L.), The Picower Institute for Learning & Memory, Massachusetts Institute of Technology, Cambridge; and Department of Human Genetics (S.C., A.P.R., L.A., S.Z., M.A.S.), Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL.

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December 2018

Perspectives on the Genomics of HSP Beyond Mendelian Inheritance.

Front Neurol 2018 26;9:958. Epub 2018 Nov 26.

Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, United States.

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November 2018

The human motor neuron axonal transcriptome is enriched for transcripts related to mitochondrial function and microtubule-based axonal transport.

Exp Neurol 2018 Sep 20;307:155-163. Epub 2018 Jun 20.

Department of Neurology, University of Miami Miller School of Medicine, Miami, FL 33136, USA; Department of Human Genetics, Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA. Electronic address:

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September 2018

GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia.

Brain 2018 Sep;141(9):2592-2604

Department of Neurology, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Centre, GC Nijmegen, The Netherlands.

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September 2018

MFN2-associated lipomatosis: Clinical spectrum and impact on adipose tissue.

J Clin Lipidol 2018 Nov - Dec;12(6):1420-1435. Epub 2018 Jul 25.

Sorbonne Université, Inserm UMR_S 938, Centre de Recherche Saint-Antoine, Institut Hospitalo-Universitaire de Cardio-métabolisme et Nutrition (ICAN), Paris, France; Assistance Publique-Hôpitaux de Paris, Hôpital Saint-Antoine, Laboratoire Commun de Biologie et Génétique Moléculaires, Paris, France.

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July 2018

MOVR-NeuroMuscular ObserVational Research, a unified data hub for neuromuscular diseases.

Genet Med 2018 Jun 22. Epub 2018 Jun 22.

Department of Human Genetics at the University of Miami and Member, Scientific Advisory Board to the MDA, Miami, Florida, USA.

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June 2018

Variant pathogenicity evaluation in the community-driven Inherited Neuropathy Variant Browser.

Hum Mutat 2018 May 14;39(5):635-642. Epub 2018 Mar 14.

Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida.

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May 2018

Unique clinical and neurophysiologic profile of a cohort of children with CMTX3.

Neurology 2018 May 6;90(19):e1706-e1710. Epub 2018 Apr 6.

From the T.Y. Nelson Department of Neurology and Neurosurgery (M.K., M.P.M.) and Institute for Neuroscience and Muscle Research (K.C., J.B., M.P.M.), The Children's Hospital at Westmead; University of Sydney (K.C., M.H.B., G.A.N., H.K.Y., M.L.K., J.B., M.P.M.); Northcott Neuroscience Laboratory (M.H.B., G.A.N., M.L.K.), ANZAC Research Institute, Concord; Molecular Medicine Laboratory (G.A.N., M.L.K.), Concord Repatriation General Hospital, New South Wales; Department of Neurology (M.M.R.), Royal Children's Hospital; Murdoch Children's Research Institute (M.M.R.); Department of Paediatrics (M.M.R.), University of Melbourne, Parkville, Victoria; Department of Neurology (R.L.S., G.M.S.), John Hunter Children's Hospital, and University Faculty of Health, Newcastle; Department of Paediatrics (H.K.Y.), Royal North Shore Hospital, St. Leonards, New South Wales, Australia; Department of Human Genetics (S.Z.), Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, FL; and Paediatric Gait Analysis Service of New South Wales (J.B.), Sydney Children's Hospitals Network (Randwick and Westmead), Australia.

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May 2018

Mutations in BAG3 cause adult-onset Charcot-Marie-Tooth disease.

J Neurol Neurosurg Psychiatry 2018 Mar 28;89(3):313-315. Epub 2017 Jul 28.

Department of Human Genetics and Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, Florida, USA.

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March 2018

A mutation in the heptad repeat 2 domain of MFN2 in a large CMT2A family.

J Peripher Nerv Syst 2018 Mar 6;23(1):36-39. Epub 2018 Feb 6.

Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.

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March 2018

Beyond ALS and FTD: the phenotypic spectrum of TBK1 mutations includes PSP-like and cerebellar phenotypes.

Neurobiol Aging 2018 02 24;62:244.e9-244.e13. Epub 2017 Oct 24.

Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Germany. Electronic address:

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February 2018

Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function.

Neurol Genet 2018 Feb 19;4(1):e209. Epub 2018 Jan 19.

Institute of Human Genetics (N.M.-F., E.J., S.H., S.S., J.M., M.K., M.R., L.T.-B., B.W.), Center for Molecular Medicine Cologne, Institute for Genetics and Center for Rare Diseases Cologne, University of Cologne, Cologne, Germany; Institute for Zoology, Developmental Biology (H.L., M.H.), Institute of Biochemistry (C.P.), University of Cologne, Germany; Institut du Cerveau et de la Moelle épinière (M.C., A.B., A.D., G.S.), INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMRS 1127, France; Ecole Pratique des Hautes Etudes (M.C., G.S.), PSL Research University, Paris, France; Laboratory of Molecular and Cellular Neuroscience (M.R.), The Rockefeller University, New York, NY; Laboratory of Neurogenetics (A.S.), National Institute on Aging, National Institutes of Health, Bethesda, MD; John P. Hussman Institute for Human Genomics (S.Z.), University of Miami, Miller School of Medicine, FL; and APHP (A.B., A.D., G.S.), Hôpital de la Pitié-Salpêtrière, Centre de réference de neurogénétique, Paris, France.

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February 2018

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.

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May 2017

Uniparental disomy determined by whole-exome sequencing in a spectrum of rare motoneuron diseases and ataxias.

Mol Genet Genomic Med 2017 May 5;5(3):280-286. Epub 2017 Apr 5.

John P. Hussman Institute for Human GenomicsUniversity of MiamiMiamiFlorida.

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May 2017

mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis.

Neurol Genet 2017 Apr 22;3(2):e144. Epub 2017 Mar 22.

Department of Neurology and Hertie-Institute for Clinical Brain Research (H.H., R. Schüle, L.S.), University of Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE) (H.H., R.S., L.S.), Tübingen, Germany; Northern Ireland Regional Genetics Service (A.M.), Belfast City Hospital, Belfast; Department of Neurology (J.-M.V.), National Reference Center for Rare Peripheral Neuropathies, University Hospital, Limoges, France; Institute for Neuroscience and Muscle Research (R.O.), The Children's Hospital at Westmead, Sydney, New South Wales, Australia; The Triangle Regional Research and Development Center (R. Sharkia), Kfar Qari' Israel; Beit-Berl Academic College (R. Sharkia), Israel; Child Neurology and Development Center (M.M.), Hillel-Yaffe Medical Center, Hadera, Israel; Rappaport Faculty of Medicine (M.M.), Technion, Haifa, Israel; Institute of Medical Genetics and Applied Genomics (M.S.), University of Tübingen, Germany; Department of Pediatric Neurology (I.K.-M.), University Medical Center Tübingen, Germany; Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Clalit Health Services (M.A.-R.), Haifa, Israel; and Meuhedet Health Services (J.M.), North District, Israel.

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April 2017

Doublet-Mediated DNA Rearrangement-A Novel and Potentially Underestimated Mechanism for the Formation of Recurrent Pathogenic Deletions.

Hum Mutat 2017 03 13;38(3):275-278. Epub 2017 Jan 13.

Department of Clinical Chemistry and Laboratory Medicine, Jena University Hospital, Jena, Germany.

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March 2017

Abl2 kinase phosphorylates Bi-organellar regulator MNRR1 in mitochondria, stimulating respiration.

Biochim Biophys Acta Mol Cell Res 2017 Feb 30;1864(2):440-448. Epub 2016 Nov 30.

Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, MI 48201, USA. Electronic address:

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February 2017

STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations.

Orphanet J Rare Dis 2017 02 13;12(1):31. Epub 2017 Feb 13.

Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research & Center of Neurology, University of Tuebingen, Hoppe-Seyler-Str. 3, 72076, Tuebingen, Germany.

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February 2017

A novel missense mutation of CMT2P alters transcription machinery.

Ann Neurol 2016 12 27;80(6):834-845. Epub 2016 Sep 27.

Department of Neurology, Center for Human Genetic Research, and Vanderbilt Brain Institute, Vanderbilt University School of Medicine, Nashville, TN.

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December 2016

Contactin-Associated Protein 1 (CNTNAP1) Mutations Induce Characteristic Lesions of the Paranodal Region.

J Neuropathol Exp Neurol 2016 12;75(12):1155-1159

From the Department of Neurology and 'Centre de Référence des neuropathies rares', University Hospital (CHU) Limoges, Limoges, France (JMV, LM and LR); Department of Medical Genetics, University Hospital (CHU) Nantes, Nantes, France (MN, BI and BC); Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, Northern Ireland (AM); Centre de Référence des Maladies Neuromusculaires, Hôtel Dieu Hospital, Nantes, France (YP); The Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, New South Wales, Australia (RO); CNRS, CRN2M-UMR 7286, Aix-Marseille University, Marseille, France (JD); Department of Human Genetics, Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida (SZ); Department of Neurology, Nerve-Muscle Unit, University Hospital (CHU) Pellegrin, Bordeaux, France (SM).

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December 2016

Community genetics: Genetics boosts US-Cuban links.

Nature 2016 11;539(7629):357

University of Medical Sciences, Matanzas, Cuba.

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November 2016

Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48).

Neurol Genet 2016 Oct 25;2(5):e98. Epub 2016 Aug 25.

Cambridge Institute for Medical Research (J.H., J.R.E.), University of Cambridge, Addenbrooke's Hospital, UK; Children's Health Research Center (M.M., A.Y.), Cancer Biology Research Center, Sanford Research, Sioux Falls; Neurogenetics Group (K.S., T.D., J.B., P.D.J.), Department of Molecular Genetics VIB, Antwerp, Belgium; Department of Neurology (K.S., J.B., P.D.J.), Antwerp University Hospital, Belgium; Laboratories of Neurogenetics and Neuropathology (K.S., T.D., J.B., P.D.J.), Institute Born-Bunge, University of Antwerp, Belgium; Department of Neurology (L.S., J. Liepert), Hertie Institute for Clinical Brain Research, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE) (L.S.), Tübingen, Germany; Department of Neurology (J. Li), Vanderbilt University, Nashville, TN; Department of Ophthalmology (E.V.A.), Department of Neurology (J.D.B.), Ghent University Hospital, Belgium; National Eye Institute (M.B.D.), National Institutes of Health, Bethesda, MD; Cell Biology Section (R.H.R., C.B.), Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Department of Neurology (R.H.R.), Johns Hopkins University School of Medicine, Baltimore, MD; Department of Neurorehabilitation (J. Liepert), Kliniken Schmieder, Allensbach, Germany; Department of Human Genetics and Hussman Institute for Human Genomics (S.Z.), Miller School of Medicine, University of Miami, FL; Genetics of Neurodegenerative and Metabolic Diseases Unit (C.M.), IRCCS-Fondazione Istituto Neurologico Carlo Besta, Milan, Italy; Departments of Child Health, Neurology & Genetics (M.C.K.), University of Arizona College of Medicine, Phoenix; Program in Neuroscience (M.C.K.), Arizona State University, Tempe; and Pediatric Movement Disorders Program and Neurogenetics Research Program (M.C.K.), Barrow Neurological Institute, Phoenix Children's Hospital, AZ.

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October 2016

SIGMAR1 mutation associated with autosomal recessive Silver-like syndrome.

Neurology 2016 Oct 14;87(15):1607-1612. Epub 2016 Sep 14.

From the MRC Centre for Neuromuscular Diseases (A.H., P.J.T., M.L., M.G.H., J.C.B., H.H., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Department of Human Genetics and Hussman Institute for Human Genomics (M.A.G., S.Z.), Miller School of Medicine, University of Miami; The Genesis Project Foundation (M.A.G.), Miami, FL; The Dubowitz Neuromuscular Centre (F.M., A.Y.M.), UCL Institute of Child Health, London; and Department of Clinical Neurophysiology (J.C.B.), Norfolk and Norwich University Hospital, Norwich, UK.

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October 2016

Multisystemic SYNE1 ataxia: confirming the high frequency and extending the mutational and phenotypic spectrum.

Brain 2016 08 19;139(Pt 8):e46. Epub 2016 May 19.

10 Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Germany 11 German Research Centre for Neurodegenerative Diseases (DZNE), Tübingen, Germany

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August 2016

Uniparental disomy of chromosome 16 unmasks recessive mutations of FA2H/SPG35 in 4 families.

Neurology 2016 Jul 17;87(2):186-91. Epub 2016 Jun 17.

From the Institute of Medical Genetics and Applied Genomics (A.S.S., S.B.-W., K.S., O.R., P.B.) and Department of Neurology and Hertie Institute for Clinical Brain Research (T.W.R., R.S., L.S.), University of Tübingen; German Center of Neurodegenerative Diseases (DZNE) (T.W.R., R.S.), Tübingen, Germany; Imprinting and Cancer Group (D.M.), Cancer Epigenetic and Biology Program, Institut d'Investigació Biomedica de Bellvitge, Hospital Duran i Reynals, Barcelona, Spain; Department of Neuropediatrics (M.D.-N.), Tübingen University School of Medicine; CeGaT GmbH (K.H.), Tübingen, Germany; Neurometabolic Diseases Laboratory (A.S., M.R., A.P.), Institut d'Investigació Biomedica de Bellvitge IDIBELL, Hospital Duran i Reynals, Barcelona; Centre for Biomedical Research on Rare Diseases (CIBERER) (A.S., M.R., A.P.), Institute Carlos III, Madrid; Catalan Institution for Research and Advanced Studies (ICREA) (A.P.), Barcelona, Spain; and Hussman Institute for Human Genomics (S.Z., R.S.), University of Miami Miller School of Medicine, FL.

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July 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.

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June 2016

Genetic background of the hereditary spastic paraplegia phenotypes in Hungary - An analysis of 58 probands.

J Neurol Sci 2016 May 12;364:116-21. Epub 2016 Mar 12.

Institute of Genomic Medicine and Rare Disorders, Semmelweis University, Tömő Street 25-29, 1083 Budapest, Hungary. Electronic address:

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May 2016

Regulation of the Epigenome by Vitamin C.

Annu Rev Nutr 2015 6;35:545-64. Epub 2015 May 6.

John P. Hussman Institute for Human Genomics.

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April 2016

Severe axonal Charcot-Marie-Tooth disease with proximal weakness caused by de novo mutation in the MORC2 gene.

Brain 2016 Apr 11;139(Pt 4):e26. Epub 2016 Feb 11.

1 Department of Paediatric Neurology, DNA Laboratory, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic.

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April 2016

Cryptic Amyloidogenic Elements in the 3' UTRs of Neurofilament Genes Trigger Axonal Neuropathy.

Am J Hum Genet 2016 Apr 31;98(4):597-614. Epub 2016 Mar 31.

Dr. John T. Macdonald Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL 33136, USA. Electronic address:

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April 2016

Segregation of a rare TTC3 variant in an extended family with late-onset Alzheimer disease.

Neurol Genet 2016 Feb 14;2(1):e41. Epub 2016 Jan 14.

John P. Hussman Institute for Human Genomics (M.A.K., H.N.C., K.L.H.-N., S.R., B.W.K., P.L.W., S.L.Z., E.R.M., G.W.B., J.M.V., M.L.C., J.R.G., R.M.C., M.A.P.-V.), Department of Neurology (H.N.C., S.L.Z., J.M.V., M.A.P.-V.), and Dr. John T. Macdonald Foundation Department of Human Genetics (S.L.Z., E.R.M., G.W.B., J.M.V., M.L.C., J.R.G., M.A.P.-V.), University of Miami, Miller School of Medicine, Miami, FL; Departments of Medicine, Neurology, Ophthalmology, Genetics & Genomics, Epidemiology, and Biostatistics (L.A.F.), Boston University, Boston, MA; Department of Epidemiology and Biostatistics (J.L.H.), Institute for Computational Biology, Case Western Reserve University School of Medicine, Cleveland, OH; and Department of Pathology and Laboratory Medicine (G.D.S.), University of Pennsylvania School of Medicine, Philadelphia, PA.

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February 2016

Electrophysiologic features of SYT2 mutations causing a treatable neuromuscular syndrome.

Neurology 2015 Dec 30;85(22):1964-71. Epub 2015 Oct 30.

From the Institute of Neuroscience (R.G.W., B.A.S.H.) and John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine (B.B., R.M.L., R.H., H.L.), Newcastle University, Newcastle, UK; Department of Neurology (D.N.H., E.L.L., J.E.S.), University of Rochester Medical Center, NY; Department of Neurology (J.L.A.), Dartmouth Hitchcock Clinic, Geisel School of Medicine, Hanover, NH; The Picower Institute for Learning and Memory (J.T.L.), Department of Biology and Department of Brain and Cognitive Sciences, Massachusetts Institute of Technology, Cambridge, MA; and Dr. John T. Macdonald Department of Human Genetics and Hussman Institute for Human Genomics (S.Z.), University of Miami, Miller School of Medicine, Miami, FL.

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December 2015

Disruptive SCYL1 Mutations Underlie a Syndrome Characterized by Recurrent Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia.

Am J Hum Genet 2015 Dec 12;97(6):855-61. Epub 2015 Nov 12.

Neuromuscular Research Department, Center of Anatomy and Cell Biology, Medical University of Vienna, 1090 Vienna, Austria. Electronic address:

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December 2015

Reply: The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy.

Brain 2015 Nov 10;138(Pt 11):e392. Epub 2015 Jun 10.

2 Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead, New South Wales, 2145, Australia 3 Discipline of Paediatrics and Child Health, Faculty of Medicine, The University of Sydney, Sydney, New South Wales, 2006, Australia 24 Murdoch Children's Research Institute. The Royal Children's Hospital. Parkville Victoria 3052 Australia 25 Department of Paediatrics, University of Melbourne Parkville Victoria 3010 Australia.

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November 2015

Innovative genomic collaboration using the GENESIS (GEM.app) platform.

Hum Mutat 2015 Oct 12;36(10):950-6. Epub 2015 Aug 12.

Dr. John T. Macdonald Foundation, Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, 33136.

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October 2015

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.

Brain 2015 Aug 29;138(Pt 8):2191-205. Epub 2015 May 29.

1 INSERM, U 1127, F-75013, Paris, France 2 CNRS, UMR 7225, F-75013, Paris, France 3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France 4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France 6 Ecole Pratique des Hautes Etudes, F-75014, Paris, France 9 APHP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013, Paris, France

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August 2015

Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies.

Brain 2015 Aug 13;138(Pt 8):2161-72. Epub 2015 Jun 13.

2 Neurogenetics Group, VIB-Department of Molecular Genetics, University of Antwerp, Antwerpen 2610, Belgium 3 Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerpen 2610, Belgium 16 Department of Neurology, Antwerp University Hospital, Antwerpen 2610, Belgium.

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August 2015

Reduced neurofilament expression in cutaneous nerve fibers of patients with CMT2E.

Neurology 2015 Jul 24;85(3):228-34. Epub 2015 Jun 24.

From the Departments of Neurology (C.P., Y.B., K.M.B., X.W., T.G., S.F., S.W., M.E.S.) and Pathology (S.M.), University of Iowa Hospitals and Clinics, Iowa City; Departments of Neurology (C.S.), Stanford University, CA; Dr. John T. Macdonald Foundation Department of Human Genetics (M.G., S.Z.), University of Miami Miller School of Medicine, FL.

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July 2015

Adult-onset painful axonal polyneuropathy caused by a dominant NAGLU mutation.

Brain 2015 Jun 28;138(Pt 6):1477-83. Epub 2015 Mar 28.

1 Neurogenetics of Motion Laboratory, Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montreal, Quebec, H3A 2B4, Canada 5 Cliniques des maladies neuromusculaires, CSSS-Jonquière, Quebec, G7H 7K9, Canada

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June 2015

Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP Mutation.

Case Rep Genet 2015 23;2015:239167. Epub 2015 Mar 23.

Department of Neurology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA.

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April 2015

Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2.

Brain 2015 Feb 14;138(Pt 2):293-310. Epub 2014 Dec 14.

2 Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead, New South Wales, 2145, Australia 3 Discipline of Paediatrics and Child Health, Faculty of Medicine, The University of Sydney, Sydney, New South Wales, 2006, Australia 24 Murdoch Children's Research Institute. The Royal Children's Hospital, Parkville Victoria 3052 Australia 25 Department of Paediatrics, University of Melbourne Parkville Victoria 3010 Australia.

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February 2015

Absence of BiP co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegeneration.

Am J Hum Genet 2014 Dec 20;95(6):689-97. Epub 2014 Nov 20.

Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany.

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December 2014

A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease.

Brain 2014 Nov 14;137(Pt 11):2897-902. Epub 2014 Aug 14.

2 Department of Neurology, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, USA

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November 2014

Impaired function is a common feature of neuropathy-associated glycyl-tRNA synthetase mutations.

Hum Mutat 2014 Nov;35(11):1363-71

Cellular and Molecular Biology Program, University of Michigan Medical School, Ann Arbor, Michigan; Medical Scientist Training Program, University of Michigan Medical School, Ann Arbor, Michigan.

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November 2014

Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.

Am J Hum Genet 2014 Nov 30;95(5):590-601. Epub 2014 Oct 30.

MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK; Department of Molecular Neurosciences, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK; Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK. Electronic address:

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November 2014

KIAA1462, a coronary artery disease associated gene, is a candidate gene for late onset Alzheimer disease in APOE carriers.

PLoS One 2013 12;8(12):e82194. Epub 2013 Dec 12.

Center for Human Genetics Research and Department of Molecular Physiology and Biophysics, Vanderbilt University, Nashville, Tennessee, United States of America.

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October 2014

Haplotype-specific modulation of a SOX10/CREB response element at the Charcot-Marie-Tooth disease type 4C locus SH3TC2.

Hum Mol Genet 2014 Oct 15;23(19):5171-87. Epub 2014 May 15.

Department of Human Genetics Department of Neurology and Cellular and Molecular Biology Program, University of Michigan Medical School, Ann Arbor, MI, USA

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October 2014

A C. elegans model of human α1-antitrypsin deficiency links components of the RNAi pathway to misfolded protein turnover.

Hum Mol Genet 2014 Oct 16;23(19):5109-22. Epub 2014 May 16.

Departments of Pediatrics, Cell Biology, University of Pittsburgh School of Medicine, Children's Hospital of Pittsburgh of UPMC and Magee Womens Hospital Research Institute, 4401 Penn Avenue, Pittsburgh, PA 15224, USA,

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October 2014

Somatic mtDNA mutation spectra in the aging human putamen.

PLoS Genet 2013 5;9(12):e1003990. Epub 2013 Dec 5.

Department of Neurology, University of Miami, Miller School of Medicine, Miami, Florida, United States of America.

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August 2014

Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier.

Brain 2014 Aug 25;137(Pt 8):2164-77. Epub 2014 Jun 25.

3 Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Hoppe-Seyler-Straße 3, 72076 Tübingen, Germany4 Centre for Neurodegenerative Diseases (DZNE), Helmholtz Association of German Research Centers, Otfried-Müller-Straße 27, 72076 Tübingen, Germany.

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August 2014

Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy.

Neurology 2014 Aug 9;83(7):612-9. Epub 2014 Jul 9.

From the MRC Centre for Neuromuscular Diseases (Y.-T.L., M.L., A.H., M.M.R., H.H.) and Departments of Molecular Neuroscience (Y.-T.L., J.H., A.H., A.P., D.H., M.M.R., H.H.) and Clinical Neuroscience (C.P.), UCL Institute of Neurology; National Hospital for Neurology and Neurosurgery and UCLH (M.L., J.H., A.H., K.G.S., M.M.R., H.H.), London, UK; Section of Epilepsy (Y.-T.L.), Department of Neurology, Neurological Institute, Taipei Veterans General Hospital; National Yang-Ming University School of Medicine (Y.-T.L.), Taipei, Taiwan; Division of Neuropathology (Z.J., S.B.) and Neurogenetics Unit (J.M.P, M.G.S.), National Hospital for Neurology and Neurosurgery; Department of Neurology (J.C.J.), Chelsea and Westminster Hospital, London, UK; Department of Orthopaedics (M.A.-G.), Medical University Vienna, Austria; and Dr. John T. MacDonald Department of Human Genetics and Hussman Institute for Human Genomics (S.Z.), Miller School of Medicine, University of Miami, FL.

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August 2014

Mutation K42E in dehydrodolichol diphosphate synthase (DHDDS) causes recessive retinitis pigmentosa.

Adv Exp Med Biol 2014 ;801:165-70

Bascom Palmer Eye Institute, University of Miami, 900 NW 17th St, 33136, Miami, FL, USA,

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July 2014

Knock-down DHDDS expression induces photoreceptor degeneration in zebrafish.

Adv Exp Med Biol 2014 ;801:543-50

Bascom Palmer Eye Institute, University of Miami, 506 McKnight Building, 1638 NW 10th Ave, 33136, Miami, FL, USA,

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July 2014

Rapid in vivo forward genetic approach for identifying axon death genes in Drosophila.

Proc Natl Acad Sci U S A 2014 Jul 23;111(27):9965-70. Epub 2014 Jun 23.

Department of Neurobiology andHoward Hughes Medical Institute, University of Massachusetts Medical School, Worcester, MA 01605; and

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July 2014

Motor protein mutations cause a new form of hereditary spastic paraplegia.

Neurology 2014 Jun 7;82(22):2007-16. Epub 2014 May 7.

From the Hertie-Institute for Clinical Brain Research (A.C.O., J.R., L.S., R.S.), Department of Neurodegenerative Diseases, University of Tübingen, Germany; Bogazici University (E.B., B.O.), Department of Molecular Biology and Genetics, Istanbul; Tepecik Research and Training Hospital (L.O., Y.Z.), Clinics of Neurology, Izmir, Turkey; Diagnostic and Interventional Neuroradiology (T.L., B.B.), Department of Radiology, University Hospital Tübingen; German Research Center for Neurodegenerative Diseases (DZNE) (J.R., R.S., L.S.), Tübingen, Germany; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (A.P.R., M.A.G., S.Z., R.S.), University of Miami Miller School of Medicine, FL; Department of Neurology (D.T.), University of Duisburg-Essen; and Department of Physics E22 (Biophysics) (G.W.), Technical University Munich, Garching, Germany.

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June 2014

Characterization of the mitofusin 2 R94W mutation in a knock-in mouse model.

J Peripher Nerv Syst 2014 Jun;19(2):152-64

Department of Human Genetics, Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.

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June 2014

Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohorts.

Orphanet J Rare Dis 2014 Apr 17;9:57. Epub 2014 Apr 17.

Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Hoppe-Seyler-Str, 3, 72076 Tübingen, Germany.

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April 2014

Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia.

Am J Hum Genet 2014 Feb 2;94(2):268-77. Epub 2014 Jan 2.

Université Pierre and Marie Curie - Paris VI, Unité Mixte de Recherche S975, Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière, Groupe Hospitalier Pitié-Salpêtrière, 75013 Paris, France; Institut National de la Santé et de la Recherche Médicale, Unité 975, 75013 Paris, France; Centre National de la Recherche Scientifique, Unité Mixte de Recherche 7225, 75013 Paris, France. Electronic address:

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February 2014

Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success.

Genes (Basel) 2014 Jan 22;5(1):13-32. Epub 2014 Jan 22.

Department of Human Genetics, Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Biomedical Research Building, Room 523, LC: M-860, 1501 NW 10 Ave., Miami, FL 33136, USA.

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January 2014