Hardiman O, Al-Chalabi A, Chio A et al (2017) Amyotrophic lateral sclerosis. Nat Rev Dis Primer 3:17071. https://doi.org/10.1038/nrdp.2017.71

Article  Google Scholar 

Byrne S, Bede P, Elamin M et al (2011) Proposed criteria for familial amyotrophic lateral sclerosis. Amyotroph Lateral Scler Off Publ World Fed Neurol Res Group Mot Neuron Dis 12:157–159. https://doi.org/10.3109/17482968.2010.545420

Article  Google Scholar 

Rosen DR, Siddique T, Patterson D et al (1993) Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 362:59–62. https://doi.org/10.1038/362059a0

Article  ADS  CAS  PubMed  Google Scholar 

Ghasemi M, Brown RH (2018) Genetics of amyotrophic lateral sclerosis. Cold Spring Harb Perspect Med 8:a024125. https://doi.org/10.1101/cshperspect.a024125

Article  CAS  PubMed  PubMed Central  Google Scholar 

Zou Z-Y, Zhou Z-R, Che C-H et al (2017) Genetic epidemiology of amyotrophic lateral sclerosis: a systematic review and meta-analysis. J Neurol Neurosurg Psychiatry 88:540–549. https://doi.org/10.1136/jnnp-2016-315018

Article  PubMed  Google Scholar 

Kaur SJ, McKeown SR, Rashid S (2016) Mutant SOD1 mediated pathogenesis of amyotrophic lateral sclerosis. Gene 577:109–118. https://doi.org/10.1016/j.gene.2015.11.049

Article  CAS  PubMed  Google Scholar 

Li H-F, Wu Z-Y (2016) Genotype-phenotype correlations of amyotrophic lateral sclerosis. Transl Neurodegener 5:3. https://doi.org/10.1186/s40035-016-0050-8

Article  CAS  PubMed  PubMed Central  Google Scholar 

Schito P, Ceccardi G, Calvo A et al (2020) Clinical features and outcomes of the flail arm and flail leg and pure lower motor neuron MND variants: a multicentre Italian study. J Neurol Neurosurg Psychiatry 91:1001–1003. https://doi.org/10.1136/jnnp-2020-323542

Article  PubMed  Google Scholar 

Bali T, Self W, Liu J et al (2017) Defining SOD1 ALS natural history to guide therapeutic clinical trial design. J Neurol Neurosurg Psychiatry 88:99–105. https://doi.org/10.1136/jnnp-2016-313521

Article  PubMed  Google Scholar 

Battistini S, Giannini F, Greco G et al (2005) SOD1 mutations in amyotrophiclateral sclerosis. J Neurol 252:782–788. https://doi.org/10.1007/s00415-005-0742-y

Article  CAS  PubMed  Google Scholar 

Spinelli EG, Ghirelli A, Basaia S et al (2021) Structural MRI signatures in genetic presentations of the frontotemporal dementia/motor neuron disease spectrum. Neurology 97:e1594–e1607. https://doi.org/10.1212/WNL.0000000000012702

Article  PubMed  PubMed Central  Google Scholar 

Wiesenfarth M, Günther K, Müller K et al (2023) Clinical and genetic features of amyotrophic lateral sclerosis patients with C9orf72 mutations. Brain Commun 5:fcad087. https://doi.org/10.1093/braincomms/fcad087

Article  CAS  PubMed  PubMed Central  Google Scholar 

Naumann M, Peikert K, Günther R et al (2019) Phenotypes and malignancy risk of different FUS mutations in genetic amyotrophic lateral sclerosis. Ann Clin Transl Neurol 6:2384–2394. https://doi.org/10.1002/acn3.50930

Article  CAS  PubMed  PubMed Central  Google Scholar 

Miller TM, Cudkowicz ME, Genge A et al (2022) Trial of antisense oligonucleotide tofersen for SOD1 ALS. N Engl J Med 387:1099–1110. https://doi.org/10.1056/NEJMoa2204705

Article  CAS  PubMed  Google Scholar 

Moher D, Liberati A, Tetzlaff J et al (2010) Preferred reporting items for systematic reviews and meta-analyses: the PRISMA statement. Int J Surg Lond Engl 8:336–341. https://doi.org/10.1016/j.ijsu.2010.02.007

Article  Google Scholar 

Schwab S, Kreiliger G, Held L (2021) Assessing treatment effects and publication bias across different specialties in medicine: a meta-epidemiological study. BMJ Open 11:e045942. https://doi.org/10.1136/bmjopen-2020-045942

Article  PubMed  PubMed Central  Google Scholar 

[PDF] The Newcastle-Ottawa Scale (NOS) for Assessing the Quality of Nonrandomised Studies in Meta-Analyses|Semantic Scholar. https://www.semanticscholar.org/paper/The-Newcastle-Ottawa-Scale-(NOS)-for-Assessing-the-Wells-Wells/c293fb316b6176154c3fdbb8340a107d9c8c82bf. Accessed 16 Jul 2023.

Cumming G (2014) The new statistics: why and how. Psychol Sci 25:7–29. https://doi.org/10.1177/0956797613504966

Article  PubMed  Google Scholar 

Grambsch PM, Therneau TM (1994) Proportional hazards tests and diagnostics based on weighted residuals. Biometrika 81:515–526. https://doi.org/10.1093/biomet/81.3.515

Article  MathSciNet  Google Scholar 

Nocera L, Fallara G, Raggi D et al (2022) Immunotherapy in advanced kidney cancer: an alternative meta-analytic method using reconstructed survival data in case of proportional hazard assumption violation. Front Oncol 12:955894. https://doi.org/10.3389/fonc.2022.955894

Article  CAS  PubMed  PubMed Central  Google Scholar 

Gamez J, Corbera-Bellalta M, Nogales G et al (2006) Mutational analysis of the Cu/Zn superoxide dismutase gene in a Catalan ALS population: should all sporadic ALS cases also be screened for SOD1? J Neurol Sci 247:21–28. https://doi.org/10.1016/j.jns.2006.03.006

Article  CAS  PubMed  Google Scholar 

Eisen A, Mezei MM, Stewart HG et al (2008) SOD1 gene mutations in ALS patients from British Columbia, Canada: clinical features, neurophysiology and ethical issues in management. Amyotroph Lateral Scler Off Publ World Fed Neurol Res Group Mot Neuron Dis 9:108–119. https://doi.org/10.1080/17482960801900073

Article  CAS  Google Scholar 

Lattante S, Conte A, Zollino M et al (2012) Contribution of major amyotrophic lateral sclerosis genes to the etiology of sporadic disease. Neurology 79:66–72. https://doi.org/10.1212/WNL.0b013e31825dceca

Article  CAS  PubMed  Google Scholar 

Black HA, Leighton DJ, Cleary EM et al (2017) Genetic epidemiology of motor neuron disease-associated variants in the Scottish population. Neurobiol Aging 51:178.e11-178.e20. https://doi.org/10.1016/j.neurobiolaging.2016.12.013

Article  CAS  PubMed  Google Scholar 

Marjanović IV, Selak-Djokić B, Perić S et al (2017) Comparison of the clinical and cognitive features of genetically positive ALS patients from the largest tertiary center in Serbia. J Neurol 264:1091–1098. https://doi.org/10.1007/s00415-017-8495-y

Article  PubMed  Google Scholar 

Chen W, Xie Y, Zheng M et al (2020) Clinical and genetic features of patients with amyotrophic lateral sclerosis in southern China. Eur J Neurol 27:1017–1022. https://doi.org/10.1111/ene.14213

Article  CAS  PubMed  Google Scholar 

Canosa A, Calvo A, Moglia C et al (2022) Amyotrophic lateral sclerosis with SOD1 mutations shows distinct brain metabolic changes. Eur J Nucl Med Mol Imaging 49:2242–2250. https://doi.org/10.1007/s00259-021-05668-7

Article  CAS  PubMed  PubMed Central  Google Scholar 

Corcia P, Valdmanis P, Millecamps S et al (2012) Phenotype and genotype analysis in amyotrophic lateral sclerosis with TARDBP gene mutations. Neurology 78:1519–1526. https://doi.org/10.1212/WNL.0b013e3182553c88

Article  CAS  PubMed  Google Scholar 

Bella ED, Bersano E, Bruzzone MG et al (2022) Behavioral and cognitive phenotypes of patients with amyotrophic lateral sclerosis carrying SOD1 variants. Neurology 99:e2052-2062. https://doi.org/10.1212/WNL.0000000000201044

Article  CAS  PubMed  PubMed Central  Google Scholar 

McCann EP, Williams KL, Fifita JA et al (2017) The genotype-phenotype landscape of familial amyotrophic lateral sclerosis in Australia. Clin Genet 92:259–266. https://doi.org/10.1111/cge.12973

Article  CAS  PubMed  Google Scholar 

Hou L, Jiao B, Xiao T et al (2016) Screening of SOD1, FUS and TARDBP genes in patients with amyotrophic lateral sclerosis in central-southern China. Sci Rep 6:32478. https://doi.org/10.1038/srep32478

Article  ADS  CAS  PubMed  PubMed Central  Google Scholar 

Liu Z, Yuan Y, Wang M et al (2021) Mutation spectrum of amyotrophic lateral sclerosis in Central South China. Neurobiol Aging 107:181–188. https://doi.org/10.1016/j.neurobiolaging.2021.06.008

Article  CAS  PubMed  Google Scholar 

Bartoletti-Stella A, Vacchiano V, De Pasqua S et al (2021) Targeted sequencing panels in Italian ALS patients support different etiologies in the ALS/FTD continuum. J Neurol 268:3766–3776. https://doi.org/10.1007/s00415-021-10521-w

Article  CAS  PubMed  PubMed Central  Google Scholar 

Liu W, Li X, Sun Y et al (2022) Genotype-phenotype correlations in a chinese population with familial amyotrophic lateral sclerosis. Neurol Res 44:206–216. https://doi.org/10.1080/01616412.2021.1968706

Article  CAS  PubMed  Google Scholar 

Millecamps S, Boillée S, Le Ber I et al (2012) Phenotype difference between ALS patients with expanded repeats in C9ORF72 and patients with mutations in other ALS-related genes. J Med Genet 4