Enzymatic diagnostic test for Muscle-Eye-Brain type congenital muscular dystrophy using commercially available reagents (Q48259029)

10 February 2018

title

Enzymatic diagnostic test for Muscle-Eye-Brain type congenital muscular dystrophy using commercially available reagents (English)

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10 February 2018

congenital muscular dystrophy

main subject

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Anna-Elina Lehesjoki

object named as

Anna-Elina Lehesjoki

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Haluk Topaloglu

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Wenli Zhang

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10 February 2018

Jiri Vajsar

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10 February 2018

Pinjiang Cao

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10 February 2018

Galen Breningstall

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10 February 2018

Charlotta Diesen

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Ralph Herrmann

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Alice Steinbrecher

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Beril Talim

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Tatsushi Toda

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Thomas Voit

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Harry Schachter

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10 February 2018

publication date

1 July 2003

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10 February 2018

published in

Clinical Biochemistry

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10 February 2018

volume

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issue

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page(s)

339-344

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The complexities of dystroglycan

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Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease

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7 January 2021

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Selective deficiency of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy

7 January 2021

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An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy

7 January 2021

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7 January 2021

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Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan

7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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Preserved merosin M-chain (or laminin-alpha 2) expression in skeletal muscle distinguishes Walker-Warburg syndrome from Fukuyama muscular dystrophy and merosin-deficient congenital muscular dystrophy

7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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The gene for a novel glycosyltransferase is mutated in congenital muscular dystrophy MDC1C and limb girdle muscular dystrophy 2I

7 January 2021

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Ophthalmological findings in a new syndrome with muscle, eye and brain involvement

7 January 2021

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inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/S0009-9120(03)00036-5

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10 February 2018

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10 February 2018