S. Züchner

发表

Variation in the miRNA-433 binding site of FGF20 confers risk for Parkinson disease by overexpression of alpha-synuclein.

Gaofeng Wang, J. M. van der Walt, G. Mayhew, 2008, American journal of human genetics.

The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery

Orion J. Buske, Danielle R Azzariti, G. J. Swaminathan, 2015, Human mutation.

GEnomes Management Application (GEM.app): A New Software Tool for Large‐Scale Collaborative Genome Analysis

Derek J Van Booven, M. Tekin, S. Züchner, 2013, Human mutation.

Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12.

M. Pericak-Vance, G. Bernardi, S. Züchner, 2012, The Journal of clinical investigation.

Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients

Zacharias Kohl, Jan Kassubek, Stephan Züchner, 2016, Annals of neurology.

The COMT Val158Met polymorphism and temporal lobe morphometry in healthy adults

James R. MacFall, Warren D. Taylor, Martha E. Payne, 2007, Psychiatry Research: Neuroimaging.

Associations of a Regulatory Polymorphism of Monoamine Oxidase-A Gene Promoter (MAOA-uVNTR) With Symptoms of Depression and Sleep Quality

S. Züchner, A. Ashley-Koch, A. Krystal, 2007, Psychosomatic medicine.

Genome‐Wide Association Study Confirms SNPs in SNCA and the MAPT Region as Common Risk Factors for Parkinson Disease

Eden R Martin, Todd L Edwards, Amber Burt, 2010, Annals of human genetics.

De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

Maja Steinlin, Markus Wolff, Holger Lerche, 2015, Nature Genetics.

Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy.

S. Züchner, E. Storey, K. Claeys, 2009, Brain : a journal of neurology.

MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.

J. Lupski, S. Züchner, J. Vance, 2006, Brain : a journal of neurology.

De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia

S. Klebe, S. Züchner, A. Durr, 2022, Movement disorders : official journal of the Movement Disorder Society.

Molecular genetics of autosomal-dominant axonal Charcot-Marie-Tooth disease

S. Züchner, J. Vance, 2007, NeuroMolecular Medicine.

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

S. Züchner, P. Bauer, R. Schüle, 2014, Orphanet Journal of Rare Diseases.

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

M. Pericak-Vance, S. Züchner, J. Vance, 2014, Advances in experimental medicine and biology.

Knock-down DHDDS expression induces photoreceptor degeneration in zebrafish.

M. Pericak-Vance, S. Züchner, J. Vance, 2014, Advances in experimental medicine and biology.

Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach

S. Züchner, B. Dan, P. van Damme, 2014, neurogenetics.

Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial

S. Züchner, C. Meisner, P. Bauer, 2017, Brain : a journal of neurology.

TSG101 negatively regulates mitochondrial biogenesis in axons

Dana M. Bis-Brewer, S. Züchner, M. Freeman, 2021, Proceedings of the National Academy of Sciences.

Glutathione S-Transferase Regulates Mitochondrial Populations in Axons through Increased Glutathione Oxidation

Dana M. Bis-Brewer, S. Züchner, H. Graves, 2019, Neuron.

Ascorbate-induced generation of 5-hydroxymethylcytosine is unaffected by varying levels of iron and 2-oxoglutarate.

Juan I. Young, Gaofeng Wang, S. Züchner, 2013, Biochemical and biophysical research communications.

Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy.

Nancy F. Hansen, J. Lupski, J. Mullikin, 2010, American journal of human genetics.

Linkage and Association Study of Late‐Onset Alzheimer Disease Families Linked to 9p21.3

J. Gilbert, M. Pericak-Vance, S. Züchner, 2008, Annals of human genetics.

Perspectives on the Genomics of HSP Beyond Mendelian Inheritance

Dana M. Bis-Brewer, S. Züchner, D. Bis-Brewer, 2018, Front. Neurol..

A network biology approach to unraveling inherited axonopathies

Dana M. Bis-Brewer, S. Wuchty, S. Züchner, 2019, Scientific Reports.

Zebrafish: A Pharmacogenetic Model for Anesthesia.

C. Pylatiuk, R. Mikut, S. Züchner, 2018, Methods in enzymology.

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

S. Züchner, P. Froguel, A. Bonnefond, 2018, Journal of clinical lipidology.

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

S. Züchner, Michael A. Gonzalez, M. Freeman, 2014, Proceedings of the National Academy of Sciences.

Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease

C. Blackstone, S. Züchner, A. Dürr, 2015, Human molecular genetics.

The brain-derived neurotrophic factor VAL66MET polymorphism and cerebral white matter hyperintensities in late-life depression.

Stephan Züchner, Warren D Taylor, James R MacFall, 2008, The American journal of geriatric psychiatry : official journal of the American Association for Geriatric Psychiatry.

Variant pathogenicity evaluation in the community‐driven Inherited Neuropathy Variant Browser

S. Züchner, D. Herrmann, S. Scherer, 2018, Human mutation.

First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy

S. Züchner, R. Schüle, B. Ceulemans, 2015, BMC Medical Genetics.

Assessing non-Mendelian Inheritance in Inherited Axonopathies

Dana M. Bis-Brewer, H. Hakonarson, R. Finkel, 2020, Genetics in Medicine.

Impaired Function is a Common Feature of Neuropathy‐Associated Glycyl‐tRNA Synthetase Mutations

S. Züchner, Michael A. Gonzalez, A. Antonellis, 2014, Human mutation.

The genetics of hereditary spastic paraplegia and implications for drug therapy

S. Züchner, 2007, Expert opinion on pharmacotherapy.

Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies.

Andreas C. Themistocleous, T. Wieland, B. Schlotter-Weigel, 2016, American journal of human genetics.

A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores

R. Finkel, S. Züchner, F. Muntoni, 2020, Neurology.

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

S. Züchner, R. Schüle, M. Synofzik, 2018, Neurobiology of Aging.

Charcot‐Marie‐Tooth disease in Africa

S. Züchner, D. Pareyson, 2022, Journal of the peripheral nervous system : JPNS.

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

S. Züchner, A. Rebelo, Renata Maciel, 2018, Experimental Neurology.

Cryptic amyloidogenic elements in mutant NEFH causing Charcot-Marie-Tooth 2 trigger aggresome formation and neuronal death

S. Züchner, L. Schaeffer, Alexander J Abrams, 2017, Acta Neuropathologica Communications.

A novel nonsense mutation in the ABC1 gene causes a severe syringomyelia-like phenotype of Tangier disease.

B. Sellhaus, S. Züchner, J. Senderek, 2003, Brain : a journal of neurology.

Mutant C. elegans mitofusin leads to selective removal of mtDNA heteroplasmic deletions across generations to maintain fitness

S. Züchner, J. Vance, D. Mishmar, 2022, BMC biology.

Mutant

S. Züchner, J. Vance, A. Zvi, 2020, Definitions.

Restoring Shank3 in a rostral sensorimotor brainstem nucleus rescues reduced light-evoked behaviors in shank3ab-/- zebrafish.

S. Züchner, R. Kozol, J. Dallman, 2021 .

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

T. Meitinger, T. Strom, S. Züchner, 2014, American journal of human genetics.

[CASE REPORT] Homozygous N-terminal missense variant in PLEKHG5 associated with intermediate CMT: a case report

S. Züchner, A. Rebelo, A. Nalini, 2021, Journal of Neuromuscular Diseases.

Increased Expression of CNTF Receptor α in Denervated Human Skeletal Muscle

P. Distefano, S. Züchner, N. Stahl, 1998 .

Increased expression of CNTF receptor alpha in denervated human skeletal muscle.

P. Distefano, S. Züchner, N. Stahl, 1998, Journal of neuropathology and experimental neurology.

Hypertrophic nerve roots in a case of Roussy-Lévy syndrome

J. Noth, R. Töpper, S. Züchner, 2002, Neuroradiology.

Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2

S. Züchner, Michael A. Gonzalez, F. Speziani, 2013, Journal of Neurology, Neurosurgery & Psychiatry.

Rare mutations in ATL3, SPTLC2 and SCN9A explaining hereditary sensory neuropathy and congenital insensitivity to pain in a Brazilian cohort

S. Züchner, A. Rebelo, W. Marques, 2021, Journal of the Neurological Sciences.

Charcot-Marie-Tooth Neuropathy Type 4A

S. Züchner, J. Vance, 2013 .

GDAP1 mutations in Czech families with early-onset CMT

S. Züchner, P. Vondracek, E. Nelis, 2007, Neuromuscular Disorders.

Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy.

S. Züchner, K. Zerres, S. Rudnik-Schöneborn, 2003, Brain : a journal of neurology.

Substrate interaction defects in histidyl‐tRNA synthetase linked to dominant axonal peripheral neuropathy

S. Züchner, C. Francklyn, S. Oprescu, 2018, Human mutation.

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

S. Züchner, A. Rebelo, R. Wen, 2014, Journal of the peripheral nervous system : JPNS.

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion

A. Bronstein, S. Züchner, N. Wood, 2020, Brain : a journal of neurology.

Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54)

S. Züchner, R. Schüle, L. Schöls, 2013, European Journal of Human Genetics.

G.O. 9 Dynamin 2 mutations are associated with dominant intermediate Charcot-Marie-Tooth disease and dominant centronuclear myopathy

S. Züchner, K. Claeys, J. Martín, 2006, Neuromuscular Disorders.

Charcot–Marie–Tooth with pyramidal signs is genetically heterogeneous: Families with and without MFN2 mutations

S. Züchner, M. Kennerson, J. Vance, 2005, Neurology.

Mutation screening of mitofusin 2 in Charcot-Marie-Tooth disease type 2

S. Züchner, J. Vance, F. Speziani, 2011, Journal of Neurology.

Schwann cell gene therapies in sight.

S. Züchner, 2021, Gene therapy.

Biallelic Expansion of an intronic Repeat in the RFC1 Gene is a common cause 1 of Late-Onset Ataxia 2

S. Züchner, S. Efthymiou, H. Houlden, 2020 .

POLG mutations presenting as Charcot‐Marie‐Tooth disease

Dana M. Bis-Brewer, S. Züchner, S. Scherer, 2019, Journal of the peripheral nervous system : JPNS.

A novel MFN2 mutation causes variable clinical severity in a multi-generational CMT2 family

S. Züchner, M. Scavina, S. Scherer, 2019, Neuromuscular Disorders.

Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48)

J. Liepert, C. Blackstone, S. Züchner, 2016, Neurology: Genetics.

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

S. Züchner, M. Lek, F. Muntoni, 2013, Brain : a journal of neurology.

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

S. Züchner, Michael A. Gonzalez, P. Seeman, 2016, Brain : a journal of neurology.

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

S. Züchner, S. Aras, J. Kamholz, 2017, Biochimica et biophysica acta. Molecular cell research.

Corrigendum: Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

M. Pericak-Vance, S. Züchner, J. Vance, 2004, Nature Genetics.

Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

M. Pericak-Vance, S. Züchner, J. Vance, 2004, Nature Genetics.

Charcot-Marie-Tooth Neuropathy Type 2A

S. Züchner, 2013 .

EARLY-ONSET STROKE ASSOCIATED WITH A MUTATION IN MITOFUSIN 2

S. Züchner, S. Hwang, K. Chung, 2008, Neurology.

CNTF and its Receptor Subunits in Human Gliomas

S. Züchner, D. Lie, J. Weis, 2004, Journal of Neuro-Oncology.

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene in and for Therapeutic

Timothy A. Miller, Denis C. Bauer, Shankaracharya, 2018 .

A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14

S. Züchner, Jong-Won Kim, H. Koo, 2011, Human mutation.

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

S. Züchner, S. Scherer, W. Motley, 2018, Journal of the peripheral nervous system : JPNS.

Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease

Danqing Zhu, Stephan Züchner, M. Pericak-Vance, 2005, Nature Genetics.

Mutations in the Gene DNAJC5 Cause Autosomal Dominant Kufs Disease in a Proportion of Cases: Study of the Parry Family and 8 Other Families

S. Züchner, W. Brown, Michael A. Gonzalez, 2012, PloS one.

Correction: Mutations in the Gene DNAJC5 Cause Autosomal Dominant Kufs Disease in a Proportion of Cases: Study of the Parry Family and 8 Other Families

S. Züchner, W. Brown, Michael A. Gonzalez, 2012, PLoS ONE.

Axon-secreted chemokine-like Orion is a signal for astrocyte infiltration during neuronal remodeling

S. Züchner, L. Fradkin, A. Boulanger, 2020, bioRxiv.

dSarm/Sarm1 Is Required for Activation of an Injury-Induced Axon Death Pathway

Mary A. Logan, Robert H. Brown, S. Züchner, 2012, Science.

A Recurrent Loss‐of‐Function Alanyl‐tRNA Synthetase (AARS) Mutation in Patients with Charcot‐Marie‐Tooth Disease Type 2N (CMT2N)

J. Lupski, Yi-Chung Lee, S. Züchner, 2014 .

The phenotypic spectrum of pathogenic ATP1A1 variants expands: the novel p.P600R substitution causes demyelinating Charcot–Marie–Tooth disease

S. Züchner, A. Rebelo, K. Kleopa, 2023, Journal of Neurology.

Regulation of the Epigenome by Vitamin C.

Juan I. Young, Gaofeng Wang, S. Züchner, 2015, Annual review of nutrition.

Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia.

Alexandra Durr, Chokri Mhiri, Stephan Züchner, 2013, American journal of human genetics.

Evaluation of the X-linked high-grade myopia locus (MYP1) with cone dysfunction and color vision deficiencies.

Yi-Ju Li, S. Züchner, D. Hunt, 2009, Investigative ophthalmology & visual science.

A new locus for X-linked dominant Charcot-Marie-Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene.

S. Züchner, D. Chuang, M. Delatycki, 2013, Human molecular genetics.

Introduction to Applications of Genomic Sequencing

S. Züchner, 2016 .

Sleep Quality Varies as a Function of 5-HTTLPR Genotype and Stress

L. Gwyther, S. Züchner, A. Ashley-Koch, 2007, Psychosomatic medicine.

Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein

Ahmad Al Khleifat, M. Nalls, M. Daly, 2019, Nature Neuroscience.

Update on psychiatric genetics

S. Züchner, J. Beckham, M. Speer, 2007, Genetics in Medicine.

Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2

F. Baas, S. Züchner, J. Vance, 2006, Annals of neurology.

Emerging pathways for hereditary axonopathies

S. Züchner, J. Vance, 2005, Journal of Molecular Medicine.

SIGMAR1 mutation associated with autosomal recessive Silver-like syndrome

S. Züchner, F. Muntoni, Michael A. Gonzalez, 2016, Neurology.

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

D. Timmann, S. Züchner, D. Jokisch, 2016, Brain : a journal of neurology.

SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study.

D. Timmann, S. Züchner, A. Durr, 2016, Brain : a journal of neurology.

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

Margaret A. Pericak-Vance, Jonathan L. Haines, Lindsay A. Farrer, 2016, Neurology: Genetics.

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

Joshua A. Benson, Simon C Watkins, S. Züchner, 2014, Human molecular genetics.

Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy.

Deborah A Nickerson, Stephan Züchner, Eden Martin, 2011, American journal of human genetics.

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

William E. Byrd, Gabor T. Marth, David R. Murdock, 2021, Genetics in Medicine.

Prot2HG: a database of protein domains mapped to the human genome

Stephan Züchner, David Stanek, Dana M. Bis-Brewer, 2020, Database J. Biol. Databases Curation.

The Human Phenotype Ontology in 2017

Tudor Groza, Damian Smedley, Peter N. Robinson, 2016, Nucleic Acids Res..

Exome Sequencing of a Multigenerational Human Pedigree

Margaret A. Pericak-Vance, Dan Burges, Dale Hedges, 2009, PloS one.

Somatic mtDNA Mutation Spectra in the Aging Human Putamen

Deborah C. Mash, Stephan Züchner, D. Mash, 2013, PLoS genetics.

The mtDNA mutation spectrum of the progeroid Polg mutator mouse includes abundant control region multimers.

T. Prolla, S. Züchner, J. Vance, 2010, Cell metabolism.

Parkinsonism and distinct dementia patterns in a family with the MAPT R406W mutation

J. Gilbert, M. Pericak-Vance, S. Züchner, 2014, Alzheimer's & Dementia.

Whole exome sequencing of rare variants in EIF4G1 and VPS35 in Parkinson disease

Eden R Martin, Arpit Mehta, Stephan Züchner, 2013, Neurology.

Peripheral nerve and skeletal muscle involvement in CADASIL

S. Züchner, M. Dichgans, J. Schröder, 2005, Acta Neuropathologica.

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

S. Züchner, R. Schüle, A. Schenck, 2018, Brain : a journal of neurology.

Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.

S. Züchner, K. Zerres, S. Rudnik-Schöneborn, 2003, American journal of human genetics.

TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics

M. Mesulam, L. Petrucelli, R. Petersen, 2017, Neuron.

The value of inbred lines derived from Secale cereale × S. vavilovii via classical inbreeding and androgenetic haploids

S. Züchner, W. Friedt, G. Wenzel, 1983 .

Haploid production from Barley Yellow Dwarf Virus resistant clones of Lolium

S. Züchner, B. Foroughi-Wehr, J. Boppenmeier, 1989 .

Comparative Value of Androgenetic Doubled Haploid and Conventionally Selected Spring Barley Lines

S. Züchner, W. Friedt, B. Foroughi-Wehr, 1986 .

Copy number variations are a rare cause of non-CMT1A Charcot-Marie-Tooth disease

Gaofeng Wang, S. Züchner, J. Vance, 2010, Journal of Neurology.

Variation in SIPA1L2 is correlated with phenotype modification in Charcot– Marie– Tooth disease type 1A

F. Baas, S. Züchner, G. Beecham, 2019, Annals of neurology.

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

S. Züchner, V. Timmerman, Alleene V. Strickland, 2014, Genes.

Whole-Exome Sequencing Efficiently Detects Rare Mutations in Autosomal Recessive Nonsyndromic Hearing Loss

M. Tekin, S. Züchner, S. Blanton, 2012, PloS one.

AB022. *Genetic analysis of 11 Sudanese families with congenital hypothyroidism

S. Züchner, M. Abdullah, R. Weiss, 2018 .

Elevated preoptic brain activity in zebrafish glial glycine transporter mutants is linked to lethargy-like behaviors and delayed emergence from anesthesia

Q. C. Meng, F. Engert, Owen Randlett, 2021, Scientific Reports.

SeqEM: an adaptive genotype-calling approach for next-generation sequencing studies

Michael A. Schmidt, Stephan Züchner, Eden R. Martin, 2010, Bioinform..

Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1

S. Klebe, S. Züchner, B. Bender, 2015, Journal of Neurology.

Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa.

Juan I. Young, J. Buxbaum, J. Haines, 2011, American journal of human genetics.

REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.

M. Pericak-Vance, H. Smeets, S. Züchner, 2008, Brain : a journal of neurology.

Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31.

M. Pericak-Vance, Gaofeng Wang, S. Züchner, 2006, American journal of human genetics.

RFC1 repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxia

S. Züchner, M. Synofzik, T. Stojkovic, 2022, European journal of neurology.

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

S. Züchner, R. Schüle, E. Boltshauser, 2015, American journal of human genetics.

De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function

S. Züchner, P. Bauer, R. Schüle, 2018, European Journal of Human Genetics.

Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia

Jana Vandrovcova, Henry Houlden, Zane Jaunmuktane, 2019, Nature Genetics.

A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy

P. Tsai, Yi-Chung Lee, S. Züchner, 2017, Brain : a journal of neurology.

A Loss‐of‐Function Variant in the Human Histidyl‐tRNA Synthetase (HARS) Gene is Neurotoxic In Vivo

J. Lupski, K. Fischbeck, S. Züchner, 2013, Human mutation.

Absence of Dystrophin Related Protein-2 disrupts Cajal bands in a patient with Charcot–Marie–Tooth disease

S. Züchner, D. Sherman, P. Brophy, 2015, Neuromuscular Disorders.

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

F. Baas, S. Züchner, G. Beecham, 2014, Human molecular genetics.

Marked phenotypic variation in a family with a new myelin protein zero mutation

F. Mechler, S. Züchner, M. Molnár, 2005, Neuromuscular Disorders.

Genetic modifiers and non-Mendelian aspects of CMT

Dana M. Bis-Brewer, S. Züchner, S. Fazal, 2020, Brain Research.

Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia

S. Züchner, N. Wood, S. Efthymiou, 2019, Nature Genetics.

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

S. Züchner, P. Klivényi, Michael A. Gonzalez, 2016, Journal of the Neurological Sciences.

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

S. Züchner, R. Schüle, L. Schöls, 2014, Brain : a journal of neurology.

Results A family with severe early-onset ‘ optic atrophy plus ’ syndrome and asymptomatic parents

S. Züchner, R. Schüle, L. Schöls, 2014 .

Evaluating Pathogenicity of Rare Variants From Dilated Cardiomyopathy in the Exome Era

Deborah A Nickerson, Stephan Züchner, Eden Martin, 2012, Circulation. Cardiovascular genetics.

A Recurrent loss‐of‐function alanyl‐tRNA synthetase (AARS ) mutation in patients with charcot‐marie‐tooth disease type 2N (CMT2N)

J. Lupski, Yi-Chung Lee, S. Züchner, 2012, Human mutation.

Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia.

D. MacArthur, M. Hurles, T. Strom, 2013, American journal of human genetics.

Motor protein mutations cause a new form of hereditary spastic paraplegia

D. Timmann, S. Züchner, B. Bender, 2014, Neurology.

Targeting transthyretin ‐ Mechanism‐based treatment approaches and future perspectives in hereditary amyloidosis

S. Züchner, U. Hegenbart, T. Coelho, 2020, Journal of neurochemistry.

PNPLA 6 seed analysis in more than 500 exomes of index patients with ataxia , hereditary spastic paraplegia and Charcot – Marie – Tooth disease

T. Strom, S. Züchner, H. Prokisch, 2014 .

PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum.

T. Strom, S. Züchner, H. Prokisch, 2014, Brain : a journal of neurology.

Inverted formin 2‐related Charcot‐Marie‐Tooth disease: extension of the mutational spectrum and pathological findings in Schwann cells and axons

S. Züchner, J. Weis, H. Fehrenbach, 2015, Journal of the peripheral nervous system : JPNS.

A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance.

D. Hernandez, A. Singleton, S. Züchner, 2013, American journal of human genetics.

Characterizing the molecular phenotype of an Atp7a(T985I) conditional knock in mouse model for X-linked distal hereditary motor neuropathy (dHMNX).

S. Züchner, C. Speck-Martins, G. Nicholson, 2016, Metallomics : integrated biometal science.

C9ORF72 Intermediate Repeat Copies Are a Significant Risk Factor for Parkinson Disease

Juan I. Young, J. Gilbert, J. Haines, 2013, Annals of human genetics.

Hereditary Spastic Paraplegia Type 43 (SPG43) is Caused by Mutation in C19orf12

Janel O. Johnson, K. Fischbeck, C. Blackstone, 2013, Human mutation.

Characterization of SLITRK1 Variation in Obsessive-Compulsive Disorder

Seungtai Yoon, Vladimir Makarov, R. Delorme, 2013, PloS one.

Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia

P. D. Rijk, S. Züchner, Y. Parman, 2012, Nature Genetics.

Sequencing of Charcot–Marie–Tooth disease genes in a toxic polyneuropathy

T. Therneau, G. Schroth, S. Züchner, 2014, Annals of neurology.

Exome sequencing allows for rapid gene identification in a Charcot‐Marie‐Tooth family

Stephan Züchner, William Hulme, S. Züchner, 2011, Annals of neurology.

Axonal chemokine-like Orion induces astrocyte infiltration and engulfment during mushroom body neuronal remodeling

S. Züchner, L. Fradkin, A. Boulanger, 2021, Nature Communications.

Vitamin D receptor and Alzheimer's disease: a genetic and functional study

J. Gilbert, J. Haines, M. Pericak-Vance, 2012, Neurobiology of Aging.

SNPselector: a web tool for selecting SNPs for genetic association studies

Margaret A. Pericak-Vance, Judith E. Stenger, Hong Xu, 2005, Bioinform..

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

A. Pagnamenta, Changlian Zhu, T. Strom, 2021, Brain : a journal of neurology.

Repeat expansions in the C9ORF72 gene contribute to Alzheimer's disease in Caucasians

J. Gilbert, J. Haines, M. Pericak-Vance, 2013, Neurobiology of Aging.

Effect of heterogeneity on the chromosome 10 risk in late‐onset Alzheimer disease

J. Gilbert, J. Haines, M. Pericak-Vance, 2007, Human mutation.

Genomic convergence to identify candidate genes for Alzheimer Disease on chromosome 10

Stephan Züchner, J. Gilbert, J. Haines, 2009, Human mutation.

Mechanisms of Disease: a molecular genetic update on hereditary axonal neuropathies

S. Züchner, J. Vance, 2006, Nature Clinical Practice Neurology.

Absence of KIF1B mutation in a large Turkish CMT2A family suggests involvement of a second gene

S. Züchner, Y. Parman, E. Battaloğlu, 2004, Neurology.

Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study

R. Finkel, S. Züchner, F. Muntoni, 2020, Brain : a journal of neurology.

Association of the Charcot–Marie–Tooth disease gene ARHGEF10 with paclitaxel induced peripheral neuropathy in NCCTG N08CA (Alliance)

S. Züchner, C. Loprinzi, P. Beyerlein, 2015, Journal of the Neurological Sciences.

Peripheral neuropathies: Whole genome sequencing identifies causal variants in CMT

S. Züchner, 2010, Nature Reviews Neurology.

Isoform-specific loss of dystonin causes hereditary motor and sensory neuropathy

S. Züchner, S. Scherer, W. Motley, 2020, Neurology: Genetics.

The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot-Marie-Tooth neuropathy

S. Züchner, M. Vorgerd, E. Sindern, 2004, Neuromuscular Disorders.

Restoring Shank3 in the rostral brainstem of shank3ab−/− zebrafish autism models rescues sensory deficits

S. Züchner, R. Kozol, J. Dallman, 2021, Communications Biology.

Effects of Environmental Stress and Gender on Associations among Symptoms of Depression and the Serotonin Transporter Gene Linked Polymorphic Region (5-HTTLPR)

Cynthia M. Kuhn, Stephan Züchner, Ann Collins, 2008, Behavior genetics.

with Autosomal-Recessive Nonsyndromic Sensorineural Hearing Loss

M. Tekin, S. Züchner, X. Liu, 2010 .

Exome Sequencing Identifies a New Locus for DI-CMT (P05.143)

S. Züchner, S. Blanton, Michael A. Gonzalez, 2012 .

Demyelinating Charcot–Marie–Tooth neuropathy associated with FBLN5 mutations

S. Züchner, A. Kochański, P. Latour, 2020, European journal of neurology.

Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease

S. Züchner, Michael A. Gonzalez, S. Brandner, 2017, Journal of Neurology, Neurosurgery, and Psychiatry.

Hereditary Spastic Paraplegia -clinico-genetic lessons from 608 patients: Key Concepts in Hereditary Spastic Paraplegia

S. Klebe, S. Züchner, P. Bauer, 2016 .

A new locus for dominant hereditary spastic paraplegia maps to chromosome 2p12

M. Pericak-Vance, S. Züchner, A. Ashley-Koch, 2006, Neurogenetics.

Analyses of Interactions of Wheat Cultivars in Tests for Resistance to Pseudocercosporella herpotrichoides

S. Züchner, A. Thiele, A. Spanakakis, 1994 .

Autosomal dominant optic atrophy and cataract “plus” phenotype including axonal neuropathy

S. Züchner, S. Brandner, H. Houlden, 2019, Neurology: Genetics.

Biallelic loss-of-function variations in PRDX3 cause cerebellar ataxia.

D. Timmann, S. Züchner, A. Durr, 2021, Brain : a journal of neurology.

A Rare Novel Deletion of the Tyrosine Hydroxylase Gene in Parkinson Disease

S. Züchner, W. Scott, E. Martin, 2010, Human mutation.

The genetic landscape of axonal neuropathies in the middle-aged and elderly

B. Schlotter-Weigel, T. Strom, S. Züchner, 2020, Neurology.

CNTNAP1 mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis

S. Züchner, P. Bauer, R. Schüle, 2017, Neurology: Genetics.

Abnormal Paraplegin Expression in Swollen Neurites, τ- and α-Synuclein Pathology in a Case of Hereditary Spastic Paraplegia SPG7 with an Ala510Val Mutation

S. Züchner, R. Schüle, L. Schöls, 2015, International journal of molecular sciences.

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

S. Züchner, R. Schüle, L. Schöls, 2017, Molecular genetics & genomic medicine.

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

S. Züchner, B. Bender, R. Schüle, 2017, Orphanet Journal of Rare Diseases.

Genetic compensation in a stable slc25a46 mutant zebrafish: A case for using F0 CRISPR mutagenesis to study phenotypes caused by inherited disease

S. Züchner, Alexander J Abrams, Elena Buglo, 2020, PloS one.

Social support in older individuals: The role of the BDNF Val66Met polymorphism

K. Krishnan, S. Züchner, D. Blazer, 2008, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Repeat expansions nested within tandem CNVs: A unique structural change in GLS exemplifies the diagnostic challenges of non-coding pathogenic variation.

Undiagnosed Diseases Network, S. Züchner, A. V. van Kuilenburg, 2022, Human molecular genetics.

Functional evidence implicating a novel TOR1A mutation in idiopathic, late-onset focal dystonia

Gaofeng Wang, S. Züchner, D. Steffens, 2009, Journal of Medical Genetics.

Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein

Ahmad Al Khleifat, M. Nalls, M. Daly, 2019, Nature Neuroscience.

Allelic differences in the brain-derived neurotrophic factor Val66Met polymorphism in late-life depression.

Stephan Züchner, Warren D Taylor, K. Krishnan, 2007, The American journal of geriatric psychiatry : official journal of the American Association for Geriatric Psychiatry.

Functional Network Profiles in ARSACS Disclosed by Aptamer-Based Proteomic Technology

E. Bertini, S. Züchner, F. Santorelli, 2021, Frontiers in Neurology.

Standards of NGS Data Sharing and Analysis in Ataxias: Recommendations by the NGS Working Group of the Ataxia Global Initiative

S. Züchner, M. Synofzik, B. Fogel, 2023, Cerebellum.

PNPLA6-Related Disorders

S. Züchner, M. Synofzik, R. Hufnagel, 2015 .

Cryptic amyloidogenic elements in mutant NEFH causing Charcot-Marie-Tooth 2 trigger aggresome formation and neuronal death

S. Züchner, L. Schaeffer, Alexander J Abrams, 2017, Acta neuropathologica communications.

Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach

S. Züchner, B. Dan, Y. Parman, 2014, neurogenetics.

Mutations in BICD 2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia

D. MacArthur, M. Hurles, T. Strom, 2013 .

Trials for Slowly Progressive Neurogenetic Diseases Need Surrogate Endpoints

R. Finkel, S. Züchner, D. Herrmann, 2023, Annals of neurology.

MFN2 Hereditary Motor and Sensory Neuropathy

S. Züchner, 1993 .

A potential novel variant of hereditary sensory neuropathy in a 61-year-old man with cough-induced syncope and vertebral artery dissection.

S. Züchner, J. Vance, J. Morgenlander, 2010, Mayo Clinic proceedings.

Correction: Somatic mtDNA Mutation Spectra in the Aging Human Putamen

D. Mash, S. Züchner, C. Moraes, 2013, PLoS Genetics.

In vivo electroporation and non-protein based screening assays to identify antibodies against native protein conformations.

S. Züchner, J. P. de Rivero Vaccari, J. Price, 2011, Hybridoma.

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

S. Züchner, M. Menezes, M. Ryan, 2018, Neurology.

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

S. Züchner, P. Bauer, R. Schüle, 2016, Neurology.

Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study

F. Baas, S. Züchner, G. Beecham, 2019, Journal of neuromuscular diseases.

De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function

S. Züchner, P. Bauer, R. Schüle, 2018, European Journal of Human Genetics.

COPI-regulated mitochondria-ER contact site formation maintains axonal integrity.

Dana M. Bis-Brewer, S. Züchner, B. Malik, 2023, Cell reports.

RTMS induces brief events of muscle atonia in patients with narcolepsy.

R. Töpper, F. Mottaghy, S. Züchner, 2000, Sleep.

CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis

Jun Yu Li, R. Finkel, S. Züchner, 2014, Journal of Neurology, Neurosurgery & Psychiatry.

Deep structured learning for variant prioritization in Mendelian diseases

S. Züchner, A. Rebelo, D. Beijer, 2023, Nature communications.

A Recurrent KPNA3 Missense Variant Causing Infantile Pure Spastic Paraplegia

S. Züchner, E. Ortibus, J. Baets, 2022, Annals of Neurology.

RExPRT: a machine learning tool to predict pathogenicity of tandem repeat loci

S. Wuchty, S. Sunyaev, S. Züchner, 2023, bioRxiv.

Myopathy associated BAG3 mutations lead to protein aggregation by stalling Hsp70 networks

S. Züchner, H. Kampinga, S. Scherer, 2018, Nature Communications.

Glutathione S-Transferase Regulates Mitochondrial Populations in Axons through Increased Glutathione Oxidation

Dana M. Bis-Brewer, S. Züchner, H. Graves, 2019, Neuron.

FAHN/SPG35: a narrow phenotypic spectrum across disease classifications.

S. Züchner, P. Bauer, R. Schüle, 2019, Brain : a journal of neurology.

Mutations in the Gene DNAJC5 Cause Autosomal Dominant Kufs Disease in a Proportion of Cases: Study of the Parry Family and 8 Other Families

S. Züchner, W. Brown, Michael A. Gonzalez, 2012, PLoS ONE.

REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.

M. Pericak-Vance, H. Smeets, S. Züchner, 2008, Brain : a journal of neurology.

Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy.

M. Rieder, D. Nickerson, S. Züchner, 2011, American journal of human genetics.

Social support in older individuals: The role of the BDNF Val66Met polymorphism

K. Krishnan, S. Züchner, D. Blazer, 2008, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

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

S. Züchner, Michael A. Gonzalez, M. Freeman, 2014, Proceedings of the National Academy of Sciences.

Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies

David L. Bennett, T. Hornemann, S. Züchner, 2023, Brain : a journal of neurology.

Sleep stage dependant changes of the high-frequency part of the somatosensory evoked potentials at the thalamus and cortex

R. Töpper, H. Buchner, T. Waberski, 2000, Clinical Neurophysiology.

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.

Matthew H. Brush, Gabor T. Marth, John Arul Phillips, 2019, American journal of human genetics.

A Loss‐of‐Function Variant in the Human Histidyl‐tRNA Synthetase (HARS) Gene is Neurotoxic In Vivo

J. Lupski, K. Fischbeck, S. Züchner, 2013, Human mutation.

Further evidence that DDHD2 gene mutations cause autosomal recessive hereditary spastic paraplegia with thin corpus callosum

S. Züchner, M. Muglia, M. Zappia, 2014, European journal of neurology.

Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia.

S. Züchner, A. Durr, R. Schüle, 2013, American journal of human genetics.