Human Genome Epidemiology Literature Finder
Records 1 - 6 (of 6 Records) |
Query Trace: Atrophy and SPG7[original query] |
---|
ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease. Brain : a journal of neurology 2015 Nov . Montecchiani Celeste, Pedace Lucia, Lo Giudice Temistocle, Casella Antonella, Mearini Marzia, Gaudiello Fabrizio, Pedroso José L, Terracciano Chiara, Caltagirone Carlo, Massa Roberto, St George-Hyslop Peter H, Barsottini Orlando G P, Kawarai Toshitaka, Orlacchio Anton |
Clarification of undiagnosed ataxia using whole-exome sequencing with clinical implications. Parkinsonism & related disorders 2020 9 80 58-64. Kim Minkyeong, Kim Ah Reum, Kim Ji Sun, Park Jongkyu, Youn Jinyoung, Ahn Jong Hyeon, Mun Jun Kyu, Lee Chung, Kim Nam-Soon, Kim Nayoung K D, Park Woong-Yang, Cho Jin Wh |
SPG7 mutations in amyotrophic lateral sclerosis: a genetic link to hereditary spastic paraplegia. Journal of neurology 2020 5 267 (9): 2732-2743. Osmanovic Alma, Widjaja Maylin, Förster Alisa, Weder Julia, Wattjes Mike P, Lange Inken, Sarikidi Anastasia, Auber Bernd, Raab Peter, Christians Anne, Preller Matthias, Petri Susanne, Weber Ruthild |
Neurophysiological and ophthalmological findings of SPG7-related spastic ataxia: a phenotype study in an Irish cohort. Journal of neurology 2021 3 268 (10): 3897-3907. Bogdanova-Mihaylova Petya, Chen Hongying, Plapp Helena Maria, Gorman Ciara, Alexander Michael D, McHugh John C, Moran Sharon, Early Anne, Cassidy Lorraine, Lynch Timothy, Murphy Sinéad M, Walsh Richard |
Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain. Neurology. Genetics 2022 12 8 (6): e200038. Baviera-Muñoz Raquel, Carretero-Vilarroig Lidón, Vázquez-Costa Juan Francisco, Morata-Martínez Carlos, Campins-Romeu Marina, Muelas Nuria, Sastre-Bataller Isabel, Martínez-Torres Irene, Pérez-García Julia, Sivera Rafael, Sevilla Teresa, Vilchez Juan J, Jaijo Teresa, Espinós Carmen, Millán Jose M, Bataller Luis, Aller Ele |
Spastic Paraplegia Type 7-Associated Optic Neuropathy: A Case Series. Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society 2023 11 . Carter A Bell, Melissa W Ko, Devin D Mackay, Lulu L C D Bursztyn, Scott N Grossm |
- Page last reviewed:Feb 1, 2024
- Content source: