An animal model for Charcot-Marie-Tooth disease type 4B1. (Q40377973)

20 September 2017

title

An animal model for Charcot-Marie-Tooth disease type 4B1. (English)

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20 September 2017

Suzana Atanasoski

4

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Philipp Berger

object named as

Philipp Berger

3

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Ueli Suter

9

object named as

Ueli Suter

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20 September 2017

7

Klaus V Toyka

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20 September 2017

Sonja Bonneick

1

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20 September 2017

Matthias Boentert

2

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20 September 2017

Ned Mantei

5

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Carsten Wessig

6

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Peter Young

8

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publication date

25 October 2005

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20 September 2017

published in

Human Molecular Genetics

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volume

14

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issue

23

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page(s)

3685-3695

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Electrophysiological features of inherited demyelinating neuropathies: A reappraisal in the era of molecular diagnosis.

20 September 2017

cites work

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Mutations in the 5' region of the myotubularin-related protein 2 (MTMR2) gene in autosomal recessive hereditary neuropathy with focally folded myelin

21 January 2018

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A novel homozygous missense mutation in the myotubularin-related protein 2 gene associated with recessive Charcot-Marie-Tooth disease with irregularly folded myelin sheaths

21 January 2018

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Focally folded myelin in Charcot-Marie-Tooth type 1B disease is associated with Asn131Lys mutation in myelin protein zero gene: short report.

21 January 2018

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Molecular characterization and expression analysis of Mtmr2, mouse homologue of MTMR2, the Myotubularin-related 2 gene, mutated in CMT4B.

21 January 2018

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Myotubularins, a large disease-associated family of cooperating catalytically active and inactive phosphoinositides phosphatases

21 January 2018

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Membrane association of myotubularin-related protein 2 is mediated by a pleckstrin homology-GRAM domain and a coiled-coil dimerization module

21 January 2018

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Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma

21 January 2018

1 reference

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Identification of myotubularin as the lipid phosphatase catalytic subunit associated with the 3-phosphatase adapter protein, 3-PAP

21 January 2018

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Characterization of myotubularin-related protein 7 and its binding partner, myotubularin-related protein 9

21 January 2018

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Regulation of myotubularin-related (MTMR)2 phosphatidylinositol phosphatase by MTMR5, a catalytically inactive phosphatase

21 January 2018

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Immune-mediated components of hereditary demyelinating neuropathies: lessons from animal models and patients

21 January 2018

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Essential role for the myotubularin-related phosphatase Ymr1p and the synaptojanin-like phosphatases Sjl2p and Sjl3p in regulation of phosphatidylinositol 3-phosphate in yeast

21 January 2018

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The raft-associated protein MAL is required for maintenance of proper axon--glia interactions in the central nervous system

21 January 2018

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21 January 2018

Identifiers

DOI

10.1093/HMG/DDI400

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20 September 2017

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