Charcot-Marie-Tooth 2F: phenotypic presentation of the Arg136Leu HSP27 mutation in a multigenerational family (Q41641359)

6 October 2017

title

Charcot-Marie-Tooth 2F: phenotypic presentation of the Arg136Leu HSP27 mutation in a multigenerational family (English)

1 reference

6 October 2017

7

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12 June 2020

Luca Gentile

8

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12 June 2020

Giuseppe Vita

10

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12 June 2020

Anna Mazzeo

11

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12 June 2020

author name string

Claudia Stancanelli

1

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12 June 2020

Gian Maria Fabrizi

2

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12 June 2020

Moreno Ferrarini

3

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12 June 2020

Tiziana Cavallaro

4

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12 June 2020

Federica Taioli

5

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12 June 2020

Rita Di Leo

6

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12 June 2020

Antonio Toscano

9

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12 June 2020

publication date

30 December 2014

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6 October 2017

published in

Neurological Sciences

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12 June 2020

volume

36

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12 June 2020

issue

6

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12 June 2020

page(s)

1003-1006

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Small heat-shock protein HSPB1 mutants stabilize microtubules in Charcot-Marie-Tooth neuropathy.

12 June 2020

cites work

1 reference

https://api.crossref.org/works/10.1007%2FS10072-014-2050-8

Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10072-014-2050-8

Severe neuropathy after diphtheria-tetanus-pertussis vaccination in a child carrying a novel frame-shift mutation in the small heat-shock protein 27 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10072-014-2050-8

Mutation analysis of the small heat shock protein 27 gene in chinese patients with Charcot-Marie-Tooth disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10072-014-2050-8

HSPB1 and HSPB8 in inherited neuropathies: study of an Italian cohort of dHMN and CMT2 patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10072-014-2050-8

Charcot–Marie–Tooth disease type 2J with MPZ Thr124Met mutation: clinico-electrophysiological and MRI study of a family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10072-014-2050-8

The use of Charcot-Marie-Tooth Neuropathy Score

21 January 2018

1 reference

12 December 2020

A novel p.Gln175X [corrected] premature stop mutation in the C-terminal end of HSP27 is a cause of CMT2

1 reference

12 December 2020

Mutations in the HSP27 (HSPB1) gene cause dominant, recessive, and sporadic distal HMN/CMT type 2

1 reference

12 December 2020

A novel HSPB1 mutation in an Italian patient with CMT2/dHMN phenotype

1 reference

12 December 2020

10.1007/S10072-014-2050-8

Identifiers

DOI

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12 June 2020

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