Early and lethal neurodegeneration with myasthenic and myopathic features: A new ALG14-CDG.

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Clinical and research strategies for limb-girdle congenital myasthenic syndromes.

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Early and lethal neurodegeneration with myasthenic and myopathic features: A new ALG14-CDG.

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年學術文章

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2017年學術文章

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Early and lethal neurodegenera ...... hic features: A new ALG14-CDG.

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Early and lethal neurodegenera ...... hic features: A new ALG14-CDG.

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type

Item

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Early and lethal neurodegenera ...... hic features: A new ALG14-CDG.

@en

Early and lethal neurodegenera ...... hic features: A new ALG14-CDG.

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Early and lethal neurodegenera ...... hic features: A new ALG14-CDG.

@en

Early and lethal neurodegenera ...... hic features: A new ALG14-CDG.

@nl

P1476

Early and lethal neurodegenera ...... hic features: A new ALG14-CDG.

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P2093

Carsten G Bönnemann

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Clemens R Müller

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David C Schorling

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Dirk J Lefeber

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Lauren Brady

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Marcus Krüger

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

Maria Beytia

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

Marianna Bugiani

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

Marjo van der Knaap

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

Mark Tarnopolsky

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P2860

Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan

A new type of congenital disorders of glycosylation (CDG-Ii) provides new insights into the early steps of dolichol-linked oligosaccharide biosynthesis

PRALINE: a multiple sequence alignment toolbox that integrates homology-extended and secondary structure information

Alg14 recruits Alg13 to the cytoplasmic face of the endoplasmic reticulum to form a novel bipartite UDP-N-acetylglucosamine transferase required for the second step of N-linked glycosylation.

Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss

Congenital myasthenic syndromes due to mutations in ALG2 and ALG14.

Neurology of inherited glycosylation disorders.

Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik.

Whole exome sequencing of suspected mitochondrial patients in clinical practice.

Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates.

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scholarly article

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10.1212/WNL.0000000000004234

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English

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Janbernd Kirschner

Richard J Rodenburg

Rudolf Korinthenberg

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2017-07-21T00:00:00Z

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28733338

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5562963

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Early and lethal neurodegeneration with myasthenic and myopathic features: A new ALG14-CDG.

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P2860

P2860

Early and lethal neurodegeneration with myasthenic and myopathic features: A new ALG14-CDG.

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P1433

P1476

P2093

P2860

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