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Showing results (471-480 of 511) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 20, 2022
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophyJoohyun Park, Arianna Tucci, Valentina Cipriani, et al.
Medrxiv : the Preprint Server for Health Sciences|March 31, 2025
Disease stage-specific atrophy markers in Alzheimer's diseaseHannah Baumeister, Helena M Gellersen, Sarah E Polk, et al.
Brain : a Journal of Neurology|April 16, 2025
Intronic FGF14 GAA repeat expansions impact progression and survival in multiple system atrophyViorica Chelban, David Pellerin, Nirosen Vijiaratnam, et al.
Radiology|March 10, 2026
Identification of Biological Subtypes of Friedreich Ataxia with Structural MRI-based Machine LearningGiuseppe Pontillo, Simone Penna, Filippo Arrigoni, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 31, 2023
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophyJoohyun Park, Arianna Tucci, Valentina Cipriani, et al.
Nature Genetics|May 6, 2020
Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetesAndrea Cortese, Yi Zhu, Adriana P Rebelo, et al.
Nature Genetics|May 28, 2020
Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetesAndrea Cortese, Yi Zhu, Adriana P Rebelo, et al.
Brain : a Journal of Neurology|May 2, 2017
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxiaMartina Minnerop, Delia Kurzwelly, Holger Wagner, et al.
Genome Research|March 26, 2025
Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencingWouter Steyaert, Lydia Sagath, German Demidov, et al.
Neurology|November 4, 2020
The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on <i>MME</i>Jan Senderek, Petra Lassuthova, Dagmara Kabzińska, et al.
Pageof 52

Showing results (471-480 of 511) with videos related to

Sort By:
Pageof 52
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 20, 2022
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophyJoohyun Park, Arianna Tucci, Valentina Cipriani, et al.
Medrxiv : the Preprint Server for Health Sciences|March 31, 2025
Disease stage-specific atrophy markers in Alzheimer's diseaseHannah Baumeister, Helena M Gellersen, Sarah E Polk, et al.
Brain : a Journal of Neurology|April 16, 2025
Intronic FGF14 GAA repeat expansions impact progression and survival in multiple system atrophyViorica Chelban, David Pellerin, Nirosen Vijiaratnam, et al.
Radiology|March 10, 2026
Identification of Biological Subtypes of Friedreich Ataxia with Structural MRI-based Machine LearningGiuseppe Pontillo, Simone Penna, Filippo Arrigoni, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 31, 2023
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophyJoohyun Park, Arianna Tucci, Valentina Cipriani, et al.
Nature Genetics|May 6, 2020
Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetesAndrea Cortese, Yi Zhu, Adriana P Rebelo, et al.
Nature Genetics|May 28, 2020
Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetesAndrea Cortese, Yi Zhu, Adriana P Rebelo, et al.
Brain : a Journal of Neurology|May 2, 2017
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxiaMartina Minnerop, Delia Kurzwelly, Holger Wagner, et al.
Genome Research|March 26, 2025
Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencingWouter Steyaert, Lydia Sagath, German Demidov, et al.
Neurology|November 4, 2020
The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on <i>MME</i>Jan Senderek, Petra Lassuthova, Dagmara Kabzińska, et al.
Pageof 52