1 Michaelidou K, "Whole exome sequencing establishes diagnosis of Charcot-Marie-Tooth 4J, 1C, and X1 subtypes" 8 : e1141-, 2020
2 Lamp M, "Twenty years of molecular analyses in amyotrophic lateral sclerosis : genetic landscape of Italian patients" 66 : 179-, 2018
3 Gibson SB, "The evolving genetic risk for sporadic ALS" 89 : 226-233, 2017
4 DiVincenzo C, "The allelic spectrum of Charcot-Marie-Tooth disease in over 17, 000 individuals with neuropathy" 2 : 522-529, 2014
5 Richards S, "Standards and guidelines for the interpretation of sequence variants : a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology" 17 : 405-424, 2015
6 Pensato V, "Sorting rare ALS genetic variants by targeted re-sequencing panel in Italian patients : OPTN, VCP, and SQSTM1 variants account for 3% of rare genetic forms" 9 : 412-, 2020
7 Zhang H, "Screening for possible oligogenic pathogenesis in Chinese sporadic ALS patients" 19 : 419-425, 2018
8 Baulac S, "Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria" 82 : 1068-1075, 2014
9 Krüger S, "Rare variants in neurodegeneration associated genes revealed by targeted panel sequencing in a German ALS cohort" 9 : 92-, 2016
10 Feng SM, "Novel mutation in optineurin causing aggressive ALS+/-frontotemporal dementia" 6 : 2377-2383, 2019
1 Michaelidou K, "Whole exome sequencing establishes diagnosis of Charcot-Marie-Tooth 4J, 1C, and X1 subtypes" 8 : e1141-, 2020
2 Lamp M, "Twenty years of molecular analyses in amyotrophic lateral sclerosis : genetic landscape of Italian patients" 66 : 179-, 2018
3 Gibson SB, "The evolving genetic risk for sporadic ALS" 89 : 226-233, 2017
4 DiVincenzo C, "The allelic spectrum of Charcot-Marie-Tooth disease in over 17, 000 individuals with neuropathy" 2 : 522-529, 2014
5 Richards S, "Standards and guidelines for the interpretation of sequence variants : a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology" 17 : 405-424, 2015
6 Pensato V, "Sorting rare ALS genetic variants by targeted re-sequencing panel in Italian patients : OPTN, VCP, and SQSTM1 variants account for 3% of rare genetic forms" 9 : 412-, 2020
7 Zhang H, "Screening for possible oligogenic pathogenesis in Chinese sporadic ALS patients" 19 : 419-425, 2018
8 Baulac S, "Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria" 82 : 1068-1075, 2014
9 Krüger S, "Rare variants in neurodegeneration associated genes revealed by targeted panel sequencing in a German ALS cohort" 9 : 92-, 2016
10 Feng SM, "Novel mutation in optineurin causing aggressive ALS+/-frontotemporal dementia" 6 : 2377-2383, 2019
11 Bertolin C, "New FIG4 gene mutations causing aggressive ALS" 25 : e41-e42, 2018
12 Chow CY, "Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J" 448 : 68-72, 2007
13 Liu S, "Genomic analyses from non-invasive prenatal testing reveal genetic associations, patterns of viral infections, and Chinese population history" 175 : 347-359, 2018
14 Osmanovic A, "FIG4 variants in central European patients with amyotrophic lateral sclerosis : a whole-exome and targeted sequencing study" 25 : 324-331, 2017
15 Zimmermann M, "FIG4 mutations leading to parkinsonism and a phenotypical continuum between CMT4J and Yunis Varón syndrome" 74 : 6-11, 2020
16 Nicholson G, "Distinctive genetic and clinical features of CMT4J : a severe neuropathy caused by mutations in the PI(3, 5)P₂ phosphatase FIG4" 134 : 1959-1971, 2011
17 Chow CY, "Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS" 84 : 85-88, 2009
18 Müller K, "Comprehensive analysis of the mutation spectrum in 301 German ALS families" 89 : 817-827, 2018
19 Lek M, "Analysis of protein-coding genetic variation in 60, 706 humans" 536 : 285-291, 2016
20 Dols-Icardo O, "Analysis of known amyotrophic lateral sclerosis and frontotemporal dementia genes reveals a substantial genetic burden in patients manifesting both diseases not carrying the C9orf72 expansion mutation" 89 : 162-168, 2018
21 Cady J, "Amyotrophic lateral sclerosis onset is influenced by the burden of rare variants in known amyotrophic lateral sclerosis genes" 77 : 100-113, 2015
22 Brown RH, "Amyotrophic lateral sclerosis" 377 : 162-172, 2017
23 Morgan S, "A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK" 140 : 1611-1618, 2017