(Q34478330)

2 August 2017

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Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2. (English)

1 reference

2 August 2017

2

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10 June 2020

Alejandro Horga

6

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10 June 2020

Zane Jaunmuktane

7

1 reference

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10 June 2020

Rafał Płoski

12

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10 June 2020

Pawel Teterycz

13

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10 June 2020

Franco Taroni

18

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10 June 2020

Conceicao Bettencourt

23

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10 June 2020

Élodie Chabrol

24

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10 June 2020

Rita Horvath

34

1 reference

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Irena Hausmanowa-Petrusewicz

10 June 2020

29

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Irena Hausmanowa-Petrusewicz

1 reference

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10 June 2020

39

Mary M Reilly

1 reference

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10 June 2020

28

Dagmara Kabzińska

1 reference

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10 June 2020

19

Michael P Lunn

1 reference

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10 June 2020

Isabella Moroni

20

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ORCID Public Data File 2021

Andre Franke

25

object named as

Andre Franke

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10 June 2020

10

Jonathan Baets

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10 June 2020

17

Mary G Sweeney

1 reference

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10 June 2020

22

Michael G Hanna

1 reference

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10 June 2020

9

Vedrana Milic Rasic

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10 June 2020

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Ellen Cottenie

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10 June 2020

Albena Jordanova

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10 June 2020

Boglarka Bansagi

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10 June 2020

Magdalena Zimon

5

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10 June 2020

Paola Saveri

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10 June 2020

Marina Bartsakoulia

11

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10 June 2020

Ros Quinlivan

15

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10 June 2020

Matilde Laura

16

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10 June 2020

Michael Gonzalez

21

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10 June 2020

Katja von Au

26

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10 June 2020

Markus Schilhabel

27

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10 June 2020

Sebastian Brandner

30

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10 June 2020

Siew Choo Lim

31

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10 June 2020

Haiwei Song

32

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10 June 2020

Byung-Ok Choi

33

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10 June 2020

Ki-Wha Chung

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10 June 2020

Davide Pareyson

37

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10 June 2020

Matthew Harms

38

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10 June 2020

Henry Houlden

40

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10 June 2020

Milos Nikolic

14

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10 June 2020

Stephan Zuchner

36

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10 June 2020

language of work or name

English

0 references

publication date

30 October 2014

1 reference

25439726

American Journal of Human Genetics

2 August 2017

published in

1 reference

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10 June 2020

volume

95

1 reference

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10 June 2020

issue

5

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10 June 2020

page(s)

590-601

1 reference

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Charcot-Marie-Tooth disease type 2A: from typical to rare phenotypic and genotypic features

10 June 2020

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A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance

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6 July 2018

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A new nonsense mutation of the IGHMBP2 gene responsible for the first case of SMARD1 in a Sardinian patient with giant cell hepatitis.

6 July 2018

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The genetics of spinal muscular atrophies

6 July 2018

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Biochemical and genetic evidence for a role of IGHMBP2 in the translational machinery

6 July 2018

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Transplanted ALDHhiSSClo neural stem cells generate motor neurons and delay disease progression of nmd mice, an animal model of SMARD1.

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6 July 2018

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Characterization of Ighmbp2 in motor neurons and implications for the pathomechanism in a mouse model of human spinal muscular atrophy with respiratory distress type 1 (SMARD1)

6 July 2018

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Allelic heterogeneity of SMARD1 at the IGHMBP2 locus

6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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Characterization of a nuclear 20S complex containing the survival of motor neurons (SMN) protein and a specific subset of spliceosomal Sm proteins

6 July 2018

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Selection of instruments in the core set for DC-ART, SMARD, physical therapy, and clinical record keeping in ankylosing spondylitis. Progress report of the ASAS Working Group. Assessments in Ankylosing Spondylitis.

6 July 2018

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6 July 2018

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Evidence for regulation of transcription and replication of the human neurotropic virus JCV genome by the human S(mu)bp-2 protein in glial cells

6 July 2018

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Isolation of cDNA encoding a binding protein specific to 5'-phosphorylated single-stranded DNA with G-rich sequences

6 July 2018

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6 July 2018

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Severe phenotypes of SMARD1 associated with novel mutations of the IGHMBP2 gene and nuclear degeneration of muscle and Schwann cells.

6 July 2018

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One novel and one recurrent mutation in IGHMBP2 gene, causing severe spinal muscular atrophy respiratory distress 1 with onset soon after birth

27 October 2018

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27 October 2018

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27 October 2018

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27 October 2018

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Clinical variability in distal spinal muscular atrophy type 1 (DSMA1): determination of steady-state IGHMBP2 protein levels in five patients with infantile and juvenile disease.

27 October 2018

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Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysis.

27 October 2018

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A congenital myopathy with diaphragmatic weakness not linked to the SMARD1 locus

27 October 2018

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The ultrastructure of peripheral nerve, motor end-plate and skeletal muscle in patients suffering from spinal muscular atrophy with respiratory distress type 1 (SMARD1).

27 October 2018

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Long-term observations of patients with infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).

27 October 2018

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Severe infantile neuropathy with diaphragmatic weakness and its relationship to SMARD1

27 October 2018

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L’amyotrophie spinale distale de type 1 (DSMA1 ou SMARD1)

27 October 2018

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

27 October 2018

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Motoneuron Transplantation Rescues the Phenotype of SMARD1 (Spinal Muscular Atrophy with Respiratory Distress Type 1)

27 October 2018

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12 December 2020

Genetic and clinical aspects of Charcot-Marie-Tooth's disease

1 reference

12 December 2020

Inherited peripheral neuropathies

1 reference

12 December 2020

Fast motor axon loss in SMARD1 does not correspond to morphological and functional alterations of the NMJ

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12 December 2020

Variations of IGHMBP2 gene was not the major cause of Han Chinese patients with non-5q-spinal muscular atrophies

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12 December 2020

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12 December 2020

[A rare cause of respiratory failure in infants: distal spinal-muscular atrophy 1 (DSMA1 or SMARD1)]

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12 December 2020

10.1016/J.AJHG.2014.10.002

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25439726%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25439726%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

25439726

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25439726%20AND%20SRC:MED&resulttype=core&format=json