Further Validation of the SIGMAR1 c.151+1G>T Mutation as Cause of Distal Hereditary Motor Neuropathy.

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Recessive distal motor neuropathy with pyramidal signs in an Omani kindred: underlying novel mutation in the SIGMAR1 gene.

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Further Validation of the SIGMAR1 c.151+1G>T Mutation as Cause of Distal Hereditary Motor Neuropathy.

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2016 nî lūn-bûn

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2016年の論文

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年學術文章

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Further Validation of the SIGM ...... l Hereditary Motor Neuropathy.

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Further Validation of the SIGM ...... l Hereditary Motor Neuropathy.

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Further Validation of the SIGM ...... l Hereditary Motor Neuropathy.

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Further Validation of the SIGM ...... l Hereditary Motor Neuropathy.

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Further Validation of the SIGM ...... l Hereditary Motor Neuropathy.

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Further Validation of the SIGM ...... l Hereditary Motor Neuropathy.

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P1476

Further Validation of the SIGM ...... l Hereditary Motor Neuropathy.

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Britt Drögemoller

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Casper Shyr

http://www.w3.org/2001/XMLSchema#string

Clara D M van Karnebeek

http://www.w3.org/2001/XMLSchema#string

Jessica J Y Lee

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John K Wu

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Patrice Eydoux

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P2860

A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis

A SIGMAR1 splice-site mutation causes distal hereditary motor neuropathy

Molecular findings among patients referred for clinical whole-exome sequencing.

Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing.

Sigma-1 receptor regulates Tau phosphorylation and axon extension by shaping p35 turnover via myristic acid.

The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists.

The distal hereditary motor neuropathies.

The metabolic evaluation of the child with an intellectual developmental disorder: diagnostic algorithm for identification of treatable causes and new digital resource.

Dysfunction in endoplasmic reticulum-mitochondria crosstalk underlies SIGMAR1 loss of function mediated motor neuron degeneration.

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scholarly article

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Further Validation of the SIGMAR1 c.151+1G>T Mutation as Cause of Distal Hereditary Motor Neuropathy.

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P2860

P2860

Further Validation of the SIGMAR1 c.151+1G>T Mutation as Cause of Distal Hereditary Motor Neuropathy.

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