Abstract Background SOD1 mutations are the most common cause of amyotrophic lateral sclerosis (ALS) in non-Caucasian patients. Detailed natural history profiles of SOD1-mutant patients will be beneficial for the strategy and interpretation of future SOD1-targeted clinical practice. Methods Mutational distribution, age at onset (AAO), site of onset, diagnostic delay, disease progression (rate of ALSFRS-R decrease, ΔFS) and survival were analysed. Further comparisons between heredity of disease, gender, and mutations were performed. Results Sixty-six cases with 43 SOD1 mutations were included and analysed, with p.His47Arg as the leading mutation and seven novel variants identified. The mean (SD) AAO was 43.92 years (9.24) for all subjects, wi...
International audienceObjective Mutations in superoxide dismutase 1 gene ( SOD1) , encoding copper/z...
Amyotrophic Lateral Sclerosis (ALS), the most common form among motoneuron diseases, is characterize...
Mutations in superoxide dismutase 1 gene (SOD1) are linked to amyotrophic lateral sclerosis (ALS), a...
Background: Mutations in superoxide dismutase 1 gene (SOD1) are the most frequent high penetrant gen...
ImportanceUnderstanding the natural history of familial amyotrophic lateral sclerosis (ALS) caused b...
Superoxide dismutase (SOD1) gene variants may cause amyotrophic lateral sclerosis, some of which are...
Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disease causing progressive death of the ...
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by loss of motor n...
International audienceBACKGROUND: Mutations in SOD1, ANG, VAPB, TARDBP and FUS genes have been ident...
Objective: The only identified cause of amyotrophic lateral sclerosis (ALS) are mutations in a numbe...
Introduction: Familial amyotrophic lateral sclerosis (FALS) is recognised as a heterogeneous syndrom...
International audienceObjective Mutations in superoxide dismutase 1 gene ( SOD1) , encoding copper/z...
Amyotrophic Lateral Sclerosis (ALS), the most common form among motoneuron diseases, is characterize...
Mutations in superoxide dismutase 1 gene (SOD1) are linked to amyotrophic lateral sclerosis (ALS), a...
Background: Mutations in superoxide dismutase 1 gene (SOD1) are the most frequent high penetrant gen...
ImportanceUnderstanding the natural history of familial amyotrophic lateral sclerosis (ALS) caused b...
Superoxide dismutase (SOD1) gene variants may cause amyotrophic lateral sclerosis, some of which are...
Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disease causing progressive death of the ...
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by loss of motor n...
International audienceBACKGROUND: Mutations in SOD1, ANG, VAPB, TARDBP and FUS genes have been ident...
Objective: The only identified cause of amyotrophic lateral sclerosis (ALS) are mutations in a numbe...
Introduction: Familial amyotrophic lateral sclerosis (FALS) is recognised as a heterogeneous syndrom...
International audienceObjective Mutations in superoxide dismutase 1 gene ( SOD1) , encoding copper/z...
Amyotrophic Lateral Sclerosis (ALS), the most common form among motoneuron diseases, is characterize...
Mutations in superoxide dismutase 1 gene (SOD1) are linked to amyotrophic lateral sclerosis (ALS), a...