List of works by Stephan Züchner

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

scientific article

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

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

scientific article

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

scientific journal article

A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo

scientific article published on 11 October 2012

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

scientific article published on 17 January 2018

A network biology approach to unraveling inherited axonopathies

scientific article published in Scientific Reports

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

scientific article

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

A novel missense mutation of CMT2P alters transcription machinery

scientific article published on 12 September 2016

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

scientific journal article

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

scientific article published in April 2003

A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease

scientific article

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

scientific article published on June 2010

A rare novel deletion of the tyrosine hydroxylase gene in Parkinson disease

scientific article

A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N)

scientific article published on 9 November 2011

A truncating mutation in SERPINB6 is associated with autosomal-recessive nonsyndromic sensorineural hearing loss

scientific article

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

scientific article published on 29 November 2016

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

scientific article

Absence of BiP Co-chaperone DNAJC3 Causes Diabetes Mellitus and Multisystemic Neurodegeneration

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

scientific article

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

scientific article

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

scientific article

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

scientific article published in October 2007

Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia

scientific article

Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia

scientific article published on 06 June 2013

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

scientific article

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

scientific article published on 8 September 2013

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

scientific article

Associations of a regulatory polymorphism of monoamine oxidase-A gene promoter (MAOA-uVNTR) with symptoms of depression and sleep quality

scientific article published on June 2007

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

artical

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

scientific article

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

scientific article published on 19 January 2018

C9ORF72 intermediate repeat copies are a significant risk factor for Parkinson disease

scientific article published on 12 July 2013

CNTNAP1 mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis

scientific article

Characterization of SLITRK1 variation in obsessive-compulsive disorder

scientific journal article

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

scientific article published on June 2014

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

scientific article published on 13 June 2016

Comparison of three targeted enrichment strategies on the SOLiD sequencing platform

scientific article (publication date: 29 April 2011)

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 5 September 2012

Correction: Somatic mtDNA Mutation Spectra in the Aging Human Putamen.

scientific article published on 24 December 2013

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

scientific journal article

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

De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth disease

scientific article published on 23 March 2016

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

scientific article

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

scientific article

Do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal dominant inheritance of spastic paraplegia

scientific article published on 5 April 2013

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

scientific article published on 23 December 2016

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

scientific article published in November 2007

Effects of environmental stress and gender on associations among symptoms of depression and the serotonin transporter gene linked polymorphic region (5-HTTLPR).

scientific article published on 23 October 2007

Electrophysiologic features of SYT2 mutations causing a treatable neuromuscular syndrome

scientific article

Emerging pathways for hereditary axonopathies

scientific article

Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era.

scientific article published on 15 February 2012

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

scientific article published on 20 December 2008

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

scientific article

Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathy

scientific article published on 15 February 2013

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

scientific article published on June 2013

Exome sequencing of a multigenerational human pedigree

scientific article (publication date: 14 December 2009)

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

scientific article published on 21 July 2015

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

scientific article

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

GEnomes Management Application (GEM.app): a new software tool for large-scale collaborative genome analysis

scientific article published on 3 April 2013

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

scientific article

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

scientific article published on 22 January 2014

Genome-wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for Parkinson disease

scientific article

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

scientific article

Genomic convergence to identify candidate genes for Alzheimer disease on chromosome 10.

scientific article published on March 2009

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

scientific article published on 15 May 2014

Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12

scientific article

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

scientific article published on 6 November 2017

Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients

scientific article

High-resolution survey in familial Parkinson disease genes reveals multiple independent copy number variation events in PARK2

scientific article published on 28 May 2013

Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia

scientific article published on 27 April 2017

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

Identification of compound heterozygous variants in OPTN in an ALS-FTD patient from the CReATe consortium: a case report.

scientific article published on 20 March 2018

Identification of risk and age-at-onset genes on chromosome 1p in Parkinson disease

scientific article

Improved coverage and accuracy with strand-conserving sequence enrichment

scientific article published on 29 May 2013

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

scientific article published on October 2011

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

scientific article

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

scientific article

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

scientific article

Linkage to a known gene but no mutation identified: comprehensive reanalysis ofSPG4 HSP pedigrees reveals large deletions as the sole cause

article

Lipid levels are associated with a regulatory polymorphism of the monoamine oxidase-A gene promoter (MAOA-uVNTR).

scientific article published on February 2008

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

scientific article published on 17 June 2015

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

scientific article

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

scientific article

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

scientific article

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

Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78).

scientific article published in February 2017

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

scientific article published on 19 May 2006

MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs

scientific article published on 10 December 2015

MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease

scientific article published on 26 February 2016

MSeqDR: Making genomics accessible to the mitochondrial disease community

scholarly article by Marni J. Falk et al published September 2015 in Mitochondrion

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

scientific article published on January 2006

Mitochondrial Disease Sequence Data Resource (MSeqDR): a global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities

scientific article (publication date: March 2015)

Molecular Genetics of Autosomal-Dominant Axonal Charcot-Marie-Tooth Disease

article

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

scientific article published on January 2006

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

scientific article published on 25 March 2016

Motor protein mutations cause a new form of hereditary spastic paraplegia

scientific article

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

scientific article published on 19 May 2016

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

scientific article

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

scientific article

Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia

scientific article

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

scientific article

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

scientific article

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

scientific article published on 13 March 2013

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

scientific article

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

scientific article (publication date: March 2003)

Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families

scientific article

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

scientific article (publication date: May 2004)

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

scientific article

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

scientific article (publication date: March 2005)

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

scientific article published on 3 May 2017

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

scientific article published on 19 December 2013

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

scientific article published on 30 May 2013

Perspectives on the Genomics of HSP Beyond Mendelian Inheritance

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

scientific article

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

scientific article

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

scientific article published on 05 June 2009

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

scientific article

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

scientific article

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

scientific journal article

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

scientific journal article

Regulation of the Epigenome by Vitamin C

scientific article

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

scientific article published on 27 October 2012

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

scientific article

SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency

scientific article

SIGMAR1 mutation associated with autosomal recessive Silver-like syndrome

scientific article published on 14 September 2016

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

scientific article

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

scientific article published on 13 February 2017

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

scientific article

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

scientific article published on 11 February 2016

Sleep quality varies as a function of 5-HTTLPR genotype and stress

scientific article published on 31 August 2007

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

scientific article published on October 2008

Somatic mtDNA mutation spectra in the aging human putamen

scientific article

Synaptotagmin 2 Mutations Cause an Autosomal-Dominant Form of Lambert-Eaton Myasthenic Syndrome and Nonprogressive Motor Neuropathy

Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathy

scientific article

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

scientific article published in August 2017

TYROBP genetic variants in early-onset Alzheimer's disease

scientific article published on 8 August 2016

The COMT Val158Met polymorphism and temporal lobe morphometry in healthy adults.

scientific article

The Human Phenotype Ontology in 2017

scientific article (publication date: 28 November 2016)

The Matchmaker Exchange: a platform for rare disease gene discovery

scientific article

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

scientific article published on 8 February 2008

The genetics of hereditary spastic paraplegia and implications for drug therapy

scientific article published on July 2007

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

scientific article

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

scientific article

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

scientific article

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.

scientific article published in June 2019

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

scientific article

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

scientific article published on 17 June 2016

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

scientific article published on 6 April 2018

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

scientific article published on 18 September 2014

Update on psychiatric genetics

scientific article

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

scientific article published on 31 January 2008

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

scientific article

Vitamin D receptor gene as a candidate gene for Parkinson disease

scientific article

Whole Genome Sequencing and a New Bioinformatics Platform Allow for Rapid Gene Identification in D. melanogaster EMS Screens

scientific article

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

scientific article published on 13 February 2013

Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss

scientific article

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

scientific article

Zebrafish: A Pharmacogenetic Model for Anesthesia.

scientific article published on 15 March 2018

dSarm/Sarm1 is required for activation of an injury-induced axon death pathway

scientific article

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