Genetics screening in an Italian cohort of patients with Amyotrophic Lateral Sclerosis: the importance of early testing and its implication

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

Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 32.2K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Analysis of amyotrophic lateral sclerosis as a multistep process: a population-based modelling study

Ammar Al‐Chalabi, Andrea Calvo, Adriano Chiò et al. · The Lancet Neurology · 2014 · 425 citations · Full text

Life Sciences, Neurology, Neuroscience +13

Gain and loss of function of ALS-related mutations of TARDBP (TDP-43) cause motor deficits in vivo

Edor Kabashi, Miranda L. Tradewell, Patrick A. Dion et al. · Human Molecular Genetics · 2009 · 419 citations

Life Sciences, Neurology, Neuroscience +14

Evidence for an oligogenic basis of amyotrophic lateral sclerosis

Marka van Blitterswijk, Michael A. van Es, Eric A. M. Hennekam et al. · Human Molecular Genetics · 2012 · 351 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72

Johnathan Cooper‐Knock, Christopher Hewitt, J. Robin Highley et al. · Brain · 2012 · 336 citations · Full text

Life Sciences, Genetics, Neurology +16