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Stephan Züchner

Showing results (171-180 of 198) with videos related to

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Journal of Neuromuscular Diseases|April 9, 2019
Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association StudyFeifei Tao, Gary W Beecham, Adriana P Rebelo, et al.
Brain : a Journal of Neurology|May 29, 2019
FAHN/SPG35: a narrow phenotypic spectrum across disease classificationsTim W Rattay, Tobias Lindig, Jonathan Baets, et al.
Human Mutation|July 17, 2013
Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12Guida Landouré, Peng-Peng Zhu, Charles M Lourenço, et al.
Brain : a Journal of Neurology|November 11, 2017
Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trialLudger Schöls, Tim W Rattay, Peter Martus, et al.
Brain : a Journal of Neurology|April 1, 2025
Heterozygous RAB3A variants cause cerebellar ataxia by a partial loss-of-function mechanismHolger Hengel, Shabab B Hannan, Selina Reich, et al.
American Journal of Human Genetics|September 3, 2016
Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal PolyneuropathiesMichaela Auer-Grumbach, Stefan Toegel, Maria Schabhüttl, et al.
Brain : a Journal of Neurology|March 7, 2008
REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31Christian Beetz, Rebecca Schüle, Tine Deconinck, et al.
Brain : a Journal of Neurology|January 8, 2021
Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre studyMenelaos Pipis, Shawna M E Feely, James M Polke, et al.
Medrxiv : the Preprint Server for Health Sciences|October 7, 2024
Heterozygous loss-of-function variants in SPTAN1 cause a novel early childhood onset distal myopathy with chronic neurogenic featuresJonathan De Winter, Liedewei Van de Vondel, Biljana Ermanoska, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 2, 2025
Heterozygous loss-of-function variants in SPTAN1 cause an early childhood onset distal myopathyJonathan De Winter, Liedewei Van de Vondel, Biljana Ermanoska, et al.
Pageof 20

Showing results (171-180 of 198) with videos related to

Sort By:
Pageof 20
Journal of Neuromuscular Diseases|April 9, 2019
Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association StudyFeifei Tao, Gary W Beecham, Adriana P Rebelo, et al.
Brain : a Journal of Neurology|May 29, 2019
FAHN/SPG35: a narrow phenotypic spectrum across disease classificationsTim W Rattay, Tobias Lindig, Jonathan Baets, et al.
Human Mutation|July 17, 2013
Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12Guida Landouré, Peng-Peng Zhu, Charles M Lourenço, et al.
Brain : a Journal of Neurology|November 11, 2017
Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trialLudger Schöls, Tim W Rattay, Peter Martus, et al.
Brain : a Journal of Neurology|April 1, 2025
Heterozygous RAB3A variants cause cerebellar ataxia by a partial loss-of-function mechanismHolger Hengel, Shabab B Hannan, Selina Reich, et al.
American Journal of Human Genetics|September 3, 2016
Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal PolyneuropathiesMichaela Auer-Grumbach, Stefan Toegel, Maria Schabhüttl, et al.
Brain : a Journal of Neurology|March 7, 2008
REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31Christian Beetz, Rebecca Schüle, Tine Deconinck, et al.
Brain : a Journal of Neurology|January 8, 2021
Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre studyMenelaos Pipis, Shawna M E Feely, James M Polke, et al.
Medrxiv : the Preprint Server for Health Sciences|October 7, 2024
Heterozygous loss-of-function variants in SPTAN1 cause a novel early childhood onset distal myopathy with chronic neurogenic featuresJonathan De Winter, Liedewei Van de Vondel, Biljana Ermanoska, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 2, 2025
Heterozygous loss-of-function variants in SPTAN1 cause an early childhood onset distal myopathyJonathan De Winter, Liedewei Van de Vondel, Biljana Ermanoska, et al.
Pageof 20