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Stephan Zuchner

Showing results (51-60 of 149) with videos related to

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Neurology|May 5, 2017
Novel mutations in <i>dystonin</i> provide clues to the pathomechanisms of HSAN-VIFiore Manganelli, Silvia Parisi, Maria Nolano, et al.
Human Mutation|March 14, 2013
Do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal dominant inheritance of spastic paraplegiaRita-Eva Varga, Rebecca Schüle, Hicham Fadel, et al.
Clinical Genetics|January 15, 2024
The FGF14 GAA repeat expansion in Greek patients with late-onset cerebellar ataxia and an overview of the SCA27B phenotype across populationsChrisoula Kartanou, Alexandros Mitrousias, David Pellerin, et al.
Brain : a Journal of Neurology|March 27, 2024
SORD-deficient rats develop a motor-predominant peripheral neuropathy unveiling novel pathophysiological insightsAdriana P Rebelo, Clemer Abad, Maike F Dohrn, et al.
Stem Cell Research|July 2, 2026
Establishment and characterization of three human pluripotent stem cell lines from patients with spinocerebellar ataxia 27B (SCA27B)David Pellerin, Adriana Rebelo, Mohammad Faraz Zafeer, et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|March 22, 2018
Identification of compound heterozygous variants in OPTN in an ALS-FTD patient from the CReATe consortium: a case reportCyril Pottier, Evadnie Rampersaud, Matt Baker, et al.
American Journal of Human Genetics|July 26, 2011
Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontiaAsli Sirmaci, Michail Spiliopoulos, Francesco Brancati, et al.
Biorxiv : the Preprint Server for Biology|January 27, 2025
Detailed tandem repeat allele profiling in 1,027 long-read genomes reveals genome-wide patterns of pathogenicityMatt C Danzi, Isaac R L Xu, Sarah Fazal, et al.
Plos One|December 19, 2013
KIAA1462, a coronary artery disease associated gene, is a candidate gene for late onset Alzheimer disease in APOE carriersDeborah G Murdock, Yuki Bradford, Nathalie Schnetz-Boutaud, et al.
Brain Communications|December 11, 2023
Novel variant in <i>CADM3</i> causes Charcot-Marie-Tooth diseaseAbdoulaye Yalcouyé, Adriana P Rebelo, Lassana Cissé, et al.
Pageof 15

Showing results (51-60 of 149) with videos related to

Sort By:
Pageof 15
Neurology|May 5, 2017
Novel mutations in <i>dystonin</i> provide clues to the pathomechanisms of HSAN-VIFiore Manganelli, Silvia Parisi, Maria Nolano, et al.
Human Mutation|March 14, 2013
Do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal dominant inheritance of spastic paraplegiaRita-Eva Varga, Rebecca Schüle, Hicham Fadel, et al.
Clinical Genetics|January 15, 2024
The FGF14 GAA repeat expansion in Greek patients with late-onset cerebellar ataxia and an overview of the SCA27B phenotype across populationsChrisoula Kartanou, Alexandros Mitrousias, David Pellerin, et al.
Brain : a Journal of Neurology|March 27, 2024
SORD-deficient rats develop a motor-predominant peripheral neuropathy unveiling novel pathophysiological insightsAdriana P Rebelo, Clemer Abad, Maike F Dohrn, et al.
Stem Cell Research|July 2, 2026
Establishment and characterization of three human pluripotent stem cell lines from patients with spinocerebellar ataxia 27B (SCA27B)David Pellerin, Adriana Rebelo, Mohammad Faraz Zafeer, et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|March 22, 2018
Identification of compound heterozygous variants in OPTN in an ALS-FTD patient from the CReATe consortium: a case reportCyril Pottier, Evadnie Rampersaud, Matt Baker, et al.
American Journal of Human Genetics|July 26, 2011
Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontiaAsli Sirmaci, Michail Spiliopoulos, Francesco Brancati, et al.
Biorxiv : the Preprint Server for Biology|January 27, 2025
Detailed tandem repeat allele profiling in 1,027 long-read genomes reveals genome-wide patterns of pathogenicityMatt C Danzi, Isaac R L Xu, Sarah Fazal, et al.
Plos One|December 19, 2013
KIAA1462, a coronary artery disease associated gene, is a candidate gene for late onset Alzheimer disease in APOE carriersDeborah G Murdock, Yuki Bradford, Nathalie Schnetz-Boutaud, et al.
Brain Communications|December 11, 2023
Novel variant in <i>CADM3</i> causes Charcot-Marie-Tooth diseaseAbdoulaye Yalcouyé, Adriana P Rebelo, Lassana Cissé, et al.
Pageof 15