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Stephan Züchner

Showing results (101-110 of 198) with videos related to

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Neurology|May 9, 2014
Motor protein mutations cause a new form of hereditary spastic paraplegiaAndrés Caballero Oteyza, Esra Battaloğlu, Levent Ocek, et al.
Journal of the Neurological Sciences|June 5, 2021
Rare mutations in ATL3, SPTLC2 and SCN9A explaining hereditary sensory neuropathy and congenital insensitivity to pain in a Brazilian cohortVivian Pedigone Cintra, Maike F Dohrn, Pedro José Tomaselli, et al.
Neuromuscular Disorders : NMD|August 1, 2015
Absence of Dystrophin Related Protein-2 disrupts Cajal bands in a patient with Charcot-Marie-Tooth diseaseKathryn M Brennan, Yunhong Bai, Chiara Pisciotta, et al.
BMC Biology|February 10, 2022
Mutant C. elegans mitofusin leads to selective removal of mtDNA heteroplasmic deletions across generations to maintain fitnessLana Meshnik, Dan Bar-Yaacov, Dana Kasztan, et al.
Human Molecular Genetics|January 9, 2013
A new locus for X-linked dominant Charcot-Marie-Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) geneMarina L Kennerson, Eppie M Yiu, David T Chuang, et al.
Human Mutation|October 20, 2011
A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N)Heather M McLaughlin, Reiko Sakaguchi, William Giblin, et al.
The Journal of Clinical Investigation|July 11, 2024
Biallelic variants in RINT1 present as early-onset pure hereditary spastic paraplegiaVicente Quiroz, Laura Planas-Serra, Abigail Sveden, et al.
European Journal of Neurology|March 7, 2022
RFC1 repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxiaDanique Beijer, Maike F Dohrn, Jonathan De Winter, et al.
Neurology|June 19, 2016
Uniparental disomy of chromosome 16 unmasks recessive mutations of FA2H/SPG35 in 4 familiesAnne S Soehn, Tim W Rattay, Stefanie Beck-Wödl, et al.
BMC Medical Genetics|July 21, 2015
First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsyKatrien Smets, Anna Duarri, Tine Deconinck, et al.
Pageof 20

Showing results (101-110 of 198) with videos related to

Sort By:
Pageof 20
Neurology|May 9, 2014
Motor protein mutations cause a new form of hereditary spastic paraplegiaAndrés Caballero Oteyza, Esra Battaloğlu, Levent Ocek, et al.
Journal of the Neurological Sciences|June 5, 2021
Rare mutations in ATL3, SPTLC2 and SCN9A explaining hereditary sensory neuropathy and congenital insensitivity to pain in a Brazilian cohortVivian Pedigone Cintra, Maike F Dohrn, Pedro José Tomaselli, et al.
Neuromuscular Disorders : NMD|August 1, 2015
Absence of Dystrophin Related Protein-2 disrupts Cajal bands in a patient with Charcot-Marie-Tooth diseaseKathryn M Brennan, Yunhong Bai, Chiara Pisciotta, et al.
BMC Biology|February 10, 2022
Mutant C. elegans mitofusin leads to selective removal of mtDNA heteroplasmic deletions across generations to maintain fitnessLana Meshnik, Dan Bar-Yaacov, Dana Kasztan, et al.
Human Molecular Genetics|January 9, 2013
A new locus for X-linked dominant Charcot-Marie-Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) geneMarina L Kennerson, Eppie M Yiu, David T Chuang, et al.
Human Mutation|October 20, 2011
A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N)Heather M McLaughlin, Reiko Sakaguchi, William Giblin, et al.
The Journal of Clinical Investigation|July 11, 2024
Biallelic variants in RINT1 present as early-onset pure hereditary spastic paraplegiaVicente Quiroz, Laura Planas-Serra, Abigail Sveden, et al.
European Journal of Neurology|March 7, 2022
RFC1 repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxiaDanique Beijer, Maike F Dohrn, Jonathan De Winter, et al.
Neurology|June 19, 2016
Uniparental disomy of chromosome 16 unmasks recessive mutations of FA2H/SPG35 in 4 familiesAnne S Soehn, Tim W Rattay, Stefanie Beck-Wödl, et al.
BMC Medical Genetics|July 21, 2015
First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsyKatrien Smets, Anna Duarri, Tine Deconinck, et al.
Pageof 20