GBA2 Mutations Cause a Marinesco-Sjögren-Like Syndrome: Genetic and Biochemical Studies

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Single nucleotide polymorphisms in MLH1 predict poor prognosis of hepatocellular carcinoma in a Chinese population.The Enigmatic Role of GBA2 in Controlling Locomotor Function.Biochemical Characterization of the c.1780G>C Missense Mutation in Lymphoblastoid Cells from Patients with Spastic Ataxia

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GBA2 Mutations Cause a Marinesco-Sjögren-Like Syndrome: Genetic and Biochemical Studies

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GBA2 Mutations Cause a Marinesco-Sjögren-Like Syndrome: Genetic and Biochemical Studies

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GBA2 Mutations Cause a Marinesco-Sjögren-Like Syndrome: Genetic and Biochemical Studies

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GBA2 Mutations Cause a Marinesco-Sjögren-Like Syndrome: Genetic and Biochemical Studies

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GBA2 Mutations Cause a Marinesco-Sjögren-Like Syndrome: Genetic and Biochemical Studies

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GBA2 Mutations Cause a Marinesco-Sjögren-Like Syndrome: Genetic and Biochemical Studies

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GBA2 Mutations Cause a Marinesco-Sjögren-Like Syndrome: Genetic and Biochemical Studies

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GBA2 Mutations Cause a Marinesco-Sjögren-Like Syndrome: Genetic and Biochemical Studies

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GBA2 Mutations Cause a Marinesco-Sjögren-Like Syndrome: Genetic and Biochemical Studies

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GBA2 Mutations Cause a Marinesco-Sjögren-Like Syndrome: Genetic and Biochemical Studies

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P1476

GBA2 Mutations Cause a Marinesco-Sjögren-Like Syndrome: Genetic and Biochemical Studies

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Carlos E Rodriguez

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

Francisco Roque

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

Helge Boman

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

Inge Jonassen

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

Jan-Eric Månsson

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

Maria Blomqvist

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

Ove Bruland

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Per Morten Knappskog

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

Wenche Telstad

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Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia

Identification of the non-lysosomal glucosylceramidase as beta-glucosidase 2

PLINK: a tool set for whole-genome association and population-based linkage analyses

The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone

The cytosolic β-glucosidase GBA3 does not influence type 1 Gaucher disease manifestation.

Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis.

Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy.

Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study.

Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity.

MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing.

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e0169309

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scholarly article

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10.1371/JOURNAL.PONE.0169309

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English

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Stefan Johansson

Laurence Bindoff

Kristoffer Haugarvoll

Bjørn Ivar Haukanes

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2017-01-01T00:00:00Z

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28052128

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GBA2 Mutations Cause a Marinesco-Sjögren-Like Syndrome: Genetic and Biochemical Studies

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P2860

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GBA2 Mutations Cause a Marinesco-Sjögren-Like Syndrome: Genetic and Biochemical Studies

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P1476

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