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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.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.Annals of Neurology|June 9, 2026
Monoallelic POLR3A Variants Cause Early-Onset Peripheral NeuropathyLuiza L P Ramos, Jevin M Parmar, Robin Wijngaard, 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.The New England Journal of Medicine|December 14, 2022
Deep Intronic <i>FGF14</i> GAA Repeat Expansion in Late-Onset Cerebellar AtaxiaDavid Pellerin, Matt C Danzi, Carlo Wilke, et al.Ebiomedicine|August 27, 2024
Clinical and neuroradiological spectrum of biallelic variants in NOTCH3Pablo Iruzubieta, César Augusto Pinheiro Ferreira Alves, Aisha M Al Shamsi, et al.Nature Communications|February 27, 2024
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulationMarwan Nashabat, Nasrinsadat Nabavizadeh, Hilal Pırıl Saraçoğlu, et al.The Journal of Clinical Investigation|October 14, 2025
Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathyNatalia Dominik, Stephanie Efthymiou, Christopher J Record, et al.Pageof 15