Genetic testing for monogenic forms of motor neuron disease/amyotrophic lateral sclerosis in unaffected family members

Motor neuron disease (MND), also referred to as amyotrophic lateral sclerosis (ALS), is a monogenic disease in a minority of cases, with autosomal dominant inheritance. Increasing numbers of people with MND are requesting genetic testing, and indeed receiving a genetic diagnosis. Consequently, reque...

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Hlavní autoři: Howard, J, Chaouch, A, Douglas, AGL, MacLeod, R, Roggenbuck, J, McNeill, A
Médium: Journal article
Jazyk:English
Vydáno: Springer Nature [academic journals on nature.com] 2024

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