(Q34284670)

1 August 2017

Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1). (English)

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1 August 2017

spinal muscular atrophy

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1 August 2017

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Lionel Van Maldergem

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Hanns Lochmüller

object named as

Hanns Lochmüller

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author name string

Katja Grohmann

1

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1 August 2017

Raymonda Varon

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1 August 2017

Piroschka Stolz

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1 August 2017

Markus Schuelke

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1 August 2017

Catrin Janetzki

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1 August 2017

Kate Bushby

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1 August 2017

Francesco Muntoni

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1 August 2017

Robert Ouvrier

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1 August 2017

Nathalie M L A Goemans

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1 August 2017

Stephan Eichholz

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1 August 2017

Coleen Adams

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1 August 2017

Friedrich Bosch

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1 August 2017

Padraic Grattan-Smith

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1 August 2017

Carmen Navarro

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1 August 2017

Heidemarie Neitzel

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1 August 2017

Tilman Polster

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1 August 2017

Haluk Topaloğlu

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1 August 2017

Christina Steglich

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1 August 2017

Ulf P Guenther

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1 August 2017

Klaus Zerres

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1 August 2017

Sabine Rudnik-Schöneborn

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1 August 2017

Christoph Hübner

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1 August 2017

1 December 2003

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1 August 2017

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1 August 2017

54

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1 August 2017

719-724

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1 August 2017

6

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Early diaphragmatic paralysis. In infants with genetic disorders.

1 August 2017

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Neonatal spinal muscular atrophy with diaphragmatic paralysis is unlinked to 5q11.2-q13

21 January 2018

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Diaphragmatic spinal muscular atrophy with respiratory distress is heterogeneous, and one form Is linked to chromosome 11q13-q21.

21 January 2018

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Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1

21 January 2018

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Localization of the gene for distal hereditary motor neuronopathy VII (dHMN-VII) to chromosome 2q14.

21 January 2018

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Congenital axonal neuropathy caused by deletions in the spinal muscular atrophy region.

21 January 2018

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Axonal neuropathy and predominance of type II myofibers in infantile spinal muscular atrophy.

21 January 2018

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Specific interaction of Smn, the spinal muscular atrophy determining gene product, with hnRNP-R and gry-rbp/hnRNP-Q: a role for Smn in RNA processing in motor axons?

21 January 2018

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Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding.

21 January 2018

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Distal infantile spinal muscular atrophy associated with paralysis of the diaphragm: A variant of infantile spinal muscular atrophy

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/ANA.10755

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release_bzx3wk6iavg3rkyqm3czg2xuiq

1 August 2017

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Fatcat

https://api.fatcat.wiki/v0/release/bzx3wk6iavg3rkyqm3czg2xuiq

mapped directly with Wikidata item

24 November 2022

based on heuristic

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