Mutation in GM2A Leads to a Progressive Chorea-dementia Syndrome.

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GM2 gangliosidosis AB variant: novel mutation from India - a case report with a review.Atypical juvenile presentation of GM2 gangliosidosis AB in a patient compound-heterozygote for c.259G > T and c.164C > T mutations in the GM2A gene.

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Mutation in GM2A Leads to a Progressive Chorea-dementia Syndrome.

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Mutation in GM2A Leads to a Progressive Chorea-dementia Syndrome.

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Mutation in GM2A Leads to a Progressive Chorea-dementia Syndrome.

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Mutation in GM2A Leads to a Progressive Chorea-dementia Syndrome.

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P1476

Mutation in GM2A Leads to a Progressive Chorea-dementia Syndrome.

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Angela Myers

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Heba Y El Khashab

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Megan L Landsverk

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Michael C Kruer

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Mohammed Z Seidahmed

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Muddathir H A Hamad

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Mustafa A Salih

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Patricia L Crotwell

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Sabrina Burn

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Shrikant Mane

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P2860

Structure of the GM2A gene: identification of an exon 2 nonsense mutation and a naturally occurring transcript with an in-frame deletion of exon 2

Molecular analysis of a GM2-activator deficiency in two patients with GM2-gangliosidosis AB variant

Identification of high-molecular-weight proteins with multiple EGF-like motifs by motif-trap screening

A mutation in the gene of a glycolipid-binding protein (GM2 activator) that causes GM2-gangliosidosis variant AB

Molecular genetics of GM2-gangliosidosis AB variant: a novel mutation and expression in BHK cells.

A Cys138-to-Arg substitution in the GM2 activator protein is associated with the AB variant form of GM2 gangliosidosis.

The clinical aspects of adult hexosaminidase deficiencies.

Movement disorders associated with chronic GM2 gangliosidosis. Case report and review of the literature.

GM2-gangliosidosis, AB variant: clinico-pathological study of a case.

Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

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scholarly article

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10.7916/D8D21WQ0

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Kaya Bilguvar

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2015-07-09T00:00:00Z

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280390604

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26203402

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Huntington disease

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4502426

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Mutation in GM2A Leads to a Progressive Chorea-dementia Syndrome.

about

P2860

P2860

Mutation in GM2A Leads to a Progressive Chorea-dementia Syndrome.

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P1476

P2093

P2860

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P1476

P2093

P2860

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P356

P478

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P577

P5875

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P921

P932