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Author Details

Stephan Z??chner
Hussman Institute for Human Genomics, University of Miami
1998
286
67
PMIDPaper TitleJournal TitlePublished Year
37772343Mutations in alpha-B-crystallin cause autosomal dominant axonal Charcot-Marie-Tooth disease with congenital cataracts.Eur J Neurol2024
35913761Repeat expansions nested within tandem CNVs: a unique structural change in GLS exemplifies the diagnostic challenges of non-coding pathogenic variation.Hum Mol Genet2023
37706277SARS1 (SerRS) Causing De Novo Dominant Charcot-Marie-Tooth Disease with Slow Conduction.Ann Neurol2023
37705681Spinocerebellar ataxia 27B: episodic symptoms and acetazolamide response in 34 patients.Brain Commun2023
37646005Frequency of GAA-<i>FGF14</i> Ataxia in a Large Cohort of Brazilian Patients With Unsolved Adult-Onset Cerebellar Ataxia.Neurol Genet2023
37578187Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late-onset cerebellar ataxia.Eur J Neurol2023
37577458Intronic <i>FGF14</i> GAA repeat expansions are a common cause of downbeat nystagmus syndromes: frequency, phenotypic profile, and 4-aminopyridine treatment response.medRxiv2023
37498742COPI-regulated mitochondria-ER contact site formation maintains axonal integrity.Cell Rep2023
37497262Thirty-Year Follow-Up of Early Onset Amyotrophic Lateral Sclerosis with a Pathogenic Variant in SPTLC1.Case Rep Neurol2023
37565404Non-GAA Repeat Expansions in FGF14 Are Likely Not Pathogenic-Reply to: "Shaking Up Ataxia: FGF14 and RFC1 Repeat Expansions in Affected and Unaffected Members of a Chilean Family".Mov Disord2023
37425777A common flanking variant is associated with enhanced meiotic stability of the <i>FGF14</i> -SCA27B locus.bioRxiv2023
36947133Neuropathy due to bi-allelic SH3TC2 variants: genotype-phenotype correlation and natural history.Brain2023
37284795Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.Brain2023
37014713Sorbitol reduction via govorestat ameliorates synaptic dysfunction and neurodegeneration in sorbitol dehydrogenase deficiency.JCI Insight2023
37443090Deep structured learning for variant prioritization in Mendelian diseases.Nat Commun2023
37170631Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signs.Brain2023
37365282The genetic and clinical spectrum in a cohort of 39 families with complex inherited peripheral neuropathies.J Neurol2023
36813324Peripheral neuropathy in mitochondrial disease.Handb Clin Neurol2023
36516086Deep Intronic <i>FGF14</i> GAA Repeat Expansion in Late-Onset Cerebellar Ataxia.N Engl J Med2023
36738336The phenotypic spectrum of pathogenic ATP1A1 variants expands: the novel p.P600R substitution causes demyelinating Charcot-Marie-Tooth disease.J Neurol2023
36891823Trials for Slowly Progressive Neurogenetic Diseases Need Surrogate Endpoints.Ann Neurol2023
36260368Mutations in MYO9B are associated with Charcot-Marie-Tooth disease type 2 neuropathies and isolated optic atrophy.Eur J Neurol2023
34897098Homozygous N-terminal missense variant in PLEKHG5 associated with intermediate CMT: A case report.J Neuromuscul Dis2022
35668548Charcot-Marie-Tooth disease in Africa.J Peripher Nerv Syst2022
35792670Expanding PRDX3 disease: broad range of onset age and infratentorial MRI signal changes.Brain2022
36136088BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron disease.Genet Med2022
36222432Conduction block and temporal dispersion in a SIGMAR1-related neuropathy.J Peripher Nerv Syst2022
36117916Commentary: <i>SPTBN5</i>, encoding the βV-spectrin protein, leads to a syndrome of intellectual disability, developmental delay, and seizures.Front Mol Neurosci2022
35132656A neuropathy-associated kinesin KIF1A mutation hyper-stabilizes the motor-neck interaction during the ATPase cycle.EMBO J2022
35253317RFC1 repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxia.Eur J Neurol2022
34981581A Recurrent KPNA3 Missense Variant Causing Infantile Pure Spastic Paraplegia.Ann Neurol2022
35150594De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia.Mov Disord2022
35139855Mutant C. elegans mitofusin leads to selective removal of mtDNA heteroplasmic deletions across generations to maintain fitness.BMC Biol2022
35110381De Novo <i>ATP1A1</i> Variants in an Early-Onset Complex Neurodevelopmental Syndrome.Neurology2022
33230519PCYT2 mutations disrupting etherlipid biosynthesis: phenotypes converging on the CDP-ethanolamine pathway.Brain2021
33542258Elevated preoptic brain activity in zebrafish glial glycine transporter mutants is linked to lethargy-like behaviors and delayed emergence from anesthesia.Sci Rep2021
33758182Axonal chemokine-like Orion induces astrocyte infiltration and engulfment during mushroom body neuronal remodeling.Nat Commun2021
33584503Functional Network Profiles in ARSACS Disclosed by Aptamer-Based Proteomic Technology.Front Neurol2021
33889951Biallelic loss-of-function variations in PRDX3 cause cerebellar ataxia.Brain2021
33889941A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement.Brain2021
34921227Restoring Shank3 in the rostral brainstem of shank3ab-/- zebrafish autism models rescues sensory deficits.Commun Biol2021
34429526Correction: Solving unsolved rare neurological diseases-a Solve-RD viewpoint.Eur J Hum Genet2021
34480796Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.Brain2021
34796871Enrichment of <i>SARM1</i> alleles encoding variants with constitutively hyperactive NADase in patients with ALS and other motor nerve disorders.Elife2021
34161705Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans.N Engl J Med2021
33970200Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.Brain2021
34248822The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias.Front Neurol2021
34099894Schwann cell gene therapies in sight.Gene Ther2021
34037698Erratum to: A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement.Brain2021
34205781Community Engagement Practices at Research Centers in U.S. Minority Institutions: Priority Populations and Innovative Approaches to Advancing Health Disparities Research.Int J Environ Res Public Health2021
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Collaborators

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Co-authored papers 25
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Rita Horvath
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Nigel G Laing
Harry Perkins Institute of Medical Research, University of Western Australia
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Rosa Rademakers
University of Antwerp
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Patrick F Chinnery
School of Clinical Medicine, University of Cambridge
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Sebastian Brandner
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Kym M Boycott
Children's Hospital of Eastern Ontario
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Laurie B Griffin
University of Michigan ann arbor
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James R Lupski
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Reinhard Windhager
Medical University of Vienna
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Leslie G Biesecker
National Human Genome Research Institute, National Institutes of Health
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