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

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...

पूर्ण विवरण

ग्रंथसूची विवरण
मुख्य लेखकों:	Howard, J, Chaouch, A, Douglas, AGL, MacLeod, R, Roggenbuck, J, McNeill, A
स्वरूप:	Journal article
भाषा:	English
प्रकाशित:	Springer Nature [academic journals on nature.com] 2024

समान संसाधन

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Axonal Dysfunction Precedes Motor Neuronal Death in Amyotrophic Lateral Sclerosis.
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Depression in amyotrophic lateral sclerosis
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Pain in amyotrophic lateral sclerosis
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प्रकाशित: (2017-12-01)

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Amyotrophic lateral sclerosis and cerebellum
द्वारा: Renata Kabiljo, और अन्य
प्रकाशित: (2022-07-01)

Destination Amyotrophic Lateral Sclerosis
द्वारा: Matt Keon, और अन्य
प्रकाशित: (2021-03-01)

Genetics of sporadic amyotrophic lateral sclerosis.
द्वारा: Schymick, J, और अन्य
प्रकाशित: (2007)

Amyotrophic Lateral Sclerosis: A Neurodegenerative Motor Neuron Disease With Ocular Involvement
द्वारा: Pilar Rojas, और अन्य
प्रकाशित: (2020-09-01)

Intrinsic Membrane Hyperexcitability of Amyotrophic Lateral Sclerosis Patient-Derived Motor Neurons
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प्रकाशित: (2014-04-01)

Neuroimaging endpoints in amyotrophic lateral sclerosis
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प्रकाशित: (2016)

Upper Motor Neuron Disorders: Primary Lateral Sclerosis, Upper Motor Neuron Dominant Amyotrophic Lateral Sclerosis, and Hereditary Spastic Paraplegia
द्वारा: Timothy Fullam, और अन्य
प्रकाशित: (2021-05-01)