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Matt C Danzi

Showing results (31-40 of 81) with videos related to

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Neuron|July 1, 2019
Thrombospondin-1 Mediates Axon Regeneration in Retinal Ganglion CellsEric R Bray, Benjamin J Yungher, Konstantin Levay, et al.
The Lancet. Neurology|June 14, 2024
Neurological disorders caused by novel non-coding repeat expansions: clinical features and differential diagnosisElisa Vegezzi, Hiroyuki Ishiura, D Cristopher Bragg, et al.
Ebiomedicine|March 20, 2024
GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohortDavid Pellerin, Felix Heindl, Carlo Wilke, et al.
Medrxiv : the Preprint Server for Health Sciences|August 14, 2023
Intronic <i>FGF14</i> GAA repeat expansions are a common cause of downbeat nystagmus syndromes: frequency, phenotypic profile, and 4-aminopyridine treatment responseDavid Pellerin, Felix Heindl, Carlo Wilke, et al.
Ebiomedicine|March 21, 2024
The genetic landscape and phenotypic spectrum of GAA-FGF14 ataxia in China: a large cohort studyRiwei Ouyang, Linlin Wan, David Pellerin, et al.
Journal of the Neurological Sciences|November 21, 2024
Screening for SCA27B, CANVAS and other repeat expansion disorders in Greek patients with late-onset cerebellar ataxia suggests a need to update current diagnostic algorithmsGeorgios Koutsis, Chrisoula Kartanou, Zoi Kontogeorgiou, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 22, 2022
BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron diseaseAdriana P Rebelo, Ariel Ruiz, Maike F Dohrn, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|December 2, 2023
Recurrent <i>de-novo gain-of-function</i> mutation in <i>SPTLC2</i> confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosisMaike F Dohrn, Danique Beijer, Museer A Lone, et al.
Stem Cell Research|June 29, 2026
Establishment and characterization of two human pluripotent stem cell lines from patients with ATX-FGF14/spinocerebellar ataxia 27A (SCA27A)David Pellerin, Adriana Rebelo, Mohammad Faraz Zafeer, et al.
Nature|June 22, 2022
The gut metabolite indole-3 propionate promotes nerve regeneration and repairElisabeth Serger, Lucia Luengo-Gutierrez, Jessica S Chadwick, et al.
Pageof 9

Showing results (31-40 of 81) with videos related to

Sort By:
Pageof 9
Neuron|July 1, 2019
Thrombospondin-1 Mediates Axon Regeneration in Retinal Ganglion CellsEric R Bray, Benjamin J Yungher, Konstantin Levay, et al.
The Lancet. Neurology|June 14, 2024
Neurological disorders caused by novel non-coding repeat expansions: clinical features and differential diagnosisElisa Vegezzi, Hiroyuki Ishiura, D Cristopher Bragg, et al.
Ebiomedicine|March 20, 2024
GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohortDavid Pellerin, Felix Heindl, Carlo Wilke, et al.
Medrxiv : the Preprint Server for Health Sciences|August 14, 2023
Intronic <i>FGF14</i> GAA repeat expansions are a common cause of downbeat nystagmus syndromes: frequency, phenotypic profile, and 4-aminopyridine treatment responseDavid Pellerin, Felix Heindl, Carlo Wilke, et al.
Ebiomedicine|March 21, 2024
The genetic landscape and phenotypic spectrum of GAA-FGF14 ataxia in China: a large cohort studyRiwei Ouyang, Linlin Wan, David Pellerin, et al.
Journal of the Neurological Sciences|November 21, 2024
Screening for SCA27B, CANVAS and other repeat expansion disorders in Greek patients with late-onset cerebellar ataxia suggests a need to update current diagnostic algorithmsGeorgios Koutsis, Chrisoula Kartanou, Zoi Kontogeorgiou, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 22, 2022
BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron diseaseAdriana P Rebelo, Ariel Ruiz, Maike F Dohrn, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|December 2, 2023
Recurrent <i>de-novo gain-of-function</i> mutation in <i>SPTLC2</i> confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosisMaike F Dohrn, Danique Beijer, Museer A Lone, et al.
Stem Cell Research|June 29, 2026
Establishment and characterization of two human pluripotent stem cell lines from patients with ATX-FGF14/spinocerebellar ataxia 27A (SCA27A)David Pellerin, Adriana Rebelo, Mohammad Faraz Zafeer, et al.
Nature|June 22, 2022
The gut metabolite indole-3 propionate promotes nerve regeneration and repairElisabeth Serger, Lucia Luengo-Gutierrez, Jessica S Chadwick, et al.
Pageof 9