A novel GJB1 mutation in an Italian patient with Charcot-Marie-Tooth disease and pyramidal signs

Marco Luigetti; Gian Maria Fabrizi; Federico Ranieri; Federica Taioli; Amelia Conte; Alessandra Del Grande; Mario Sabatelli

doi:10.1002/mus.22156

A novel GJB1 mutation in an Italian patient with Charcot-Marie-Tooth disease and pyramidal signs

Marco Luigetti
, Gian Maria Fabrizi
, Federico Ranieri
, Federica Taioli
, Amelia Conte
, Alessandra Del Grande
, Mario Sabatelli

University of Verona

Risultato della ricerca: Contributo in rivista › Articolo › peer review

2 Citazioni (Scopus)

Abstract

No abstract

Lingua originale	Inglese
pagine (da-a)	613-615
Numero di pagine	3
Rivista	MUSCLE & NERVE
Volume	44
DOI	https://doi.org/10.1002/mus.22156
Stato di pubblicazione	Pubblicato - 2011

Keywords

Action Potentials
Adult
Charcot-Marie-Tooth Disease
Connexins
Female
Humans
Italy
Mutation
Neural Conduction
Peripheral Nerves

Accesso al documento

10.1002/mus.22156

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@article{671e56f29a204641b81cfcd3381457e0,

title = "A novel GJB1 mutation in an Italian patient with Charcot-Marie-Tooth disease and pyramidal signs",

abstract = "No abstract",

keywords = "Action Potentials, Adult, Charcot-Marie-Tooth Disease, Connexins, Female, Humans, Italy, Mutation, Neural Conduction, Peripheral Nerves, Action Potentials, Adult, Charcot-Marie-Tooth Disease, Connexins, Female, Humans, Italy, Mutation, Neural Conduction, Peripheral Nerves",

author = "Marco Luigetti and Fabrizi, \{Gian Maria\} and Federico Ranieri and Federica Taioli and Amelia Conte and \{Del Grande\}, Alessandra and Mario Sabatelli",

year = "2011",

doi = "10.1002/mus.22156",

language = "English",

volume = "44",

pages = "613--615",

journal = "MUSCLE \& NERVE",

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AU - Luigetti, Marco

AU - Fabrizi, Gian Maria

AU - Ranieri, Federico

AU - Taioli, Federica

AU - Conte, Amelia

AU - Del Grande, Alessandra

AU - Sabatelli, Mario

PY - 2011

Y1 - 2011

N2 - No abstract

AB - No abstract

KW - Action Potentials

KW - Adult

KW - Charcot-Marie-Tooth Disease

KW - Connexins

KW - Female

KW - Humans

KW - Italy

KW - Mutation

KW - Neural Conduction

KW - Peripheral Nerves

KW - Action Potentials

KW - Adult

KW - Charcot-Marie-Tooth Disease

KW - Connexins

KW - Female

KW - Humans

KW - Italy

KW - Mutation

KW - Neural Conduction

KW - Peripheral Nerves

UR - http://hdl.handle.net/10807/3656

U2 - 10.1002/mus.22156

DO - 10.1002/mus.22156

M3 - Article

SN - 1097-4598

VL - 44

SP - 613

EP - 615

JO - MUSCLE & NERVE

JF - MUSCLE & NERVE

ER -

A novel GJB1 mutation in an Italian patient with Charcot-Marie-Tooth disease and pyramidal signs

Abstract

Keywords

Accesso al documento

Altri file e collegamenti

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