D11Y SOD1 mutation and benign ALS: a consistent genotype-phenotype correlation

Alessandra Del Grande; Amelia Conte; Serena Lattante; Marco Luigetti; Giuseppe Marangi; Marcella Zollino; Francesca Madia; Giulia Bisogni; Mario Sabatelli

doi:10.1016/j.jns.2011.07.041

D11Y SOD1 mutation and benign ALS: a consistent genotype-phenotype correlation

Alessandra Del Grande
, Amelia Conte
, Serena Lattante
, Marco Luigetti
, Giuseppe Marangi
, Marcella Zollino
, Francesca Madia
, Giulia Bisogni
, Mario Sabatelli

Risultato della ricerca: Contributo in rivista › Articolo

9 Citazioni (Scopus)

Abstract

We describe three sporadic ALS patients in which a D11Y SOD1 mutation was detected. All three patients disclosed a prolonged survival and a stereotypical distal limbs involvement in the initial stages of the disease. By this report we demonstrate that D11Y SOD1 mutation is associated with a peculiar phenotype and we confirm its probable pathogenetic role.

Lingua originale	Inglese
pagine (da-a)	31-33
Numero di pagine	3
Rivista	Journal of the Neurological Sciences
Volume	309
DOI	https://doi.org/10.1016/j.jns.2011.07.041
Stato di pubblicazione	Pubblicato - 2011

Keywords

ALS

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10.1016/j.jns.2011.07.041

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title = "D11Y SOD1 mutation and benign ALS: a consistent genotype-phenotype correlation",

abstract = "We describe three sporadic ALS patients in which a D11Y SOD1 mutation was detected. All three patients disclosed a prolonged survival and a stereotypical distal limbs involvement in the initial stages of the disease. By this report we demonstrate that D11Y SOD1 mutation is associated with a peculiar phenotype and we confirm its probable pathogenetic role.",

keywords = "ALS, ALS",

author = "\{Del Grande\}, Alessandra and Amelia Conte and Serena Lattante and Marco Luigetti and Giuseppe Marangi and Marcella Zollino and Francesca Madia and Giulia Bisogni and Mario Sabatelli",

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T1 - D11Y SOD1 mutation and benign ALS: a consistent genotype-phenotype correlation

AU - Del Grande, Alessandra

AU - Conte, Amelia

AU - Lattante, Serena

AU - Luigetti, Marco

AU - Marangi, Giuseppe

AU - Zollino, Marcella

AU - Madia, Francesca

AU - Bisogni, Giulia

AU - Sabatelli, Mario

PY - 2011

Y1 - 2011

N2 - We describe three sporadic ALS patients in which a D11Y SOD1 mutation was detected. All three patients disclosed a prolonged survival and a stereotypical distal limbs involvement in the initial stages of the disease. By this report we demonstrate that D11Y SOD1 mutation is associated with a peculiar phenotype and we confirm its probable pathogenetic role.

AB - We describe three sporadic ALS patients in which a D11Y SOD1 mutation was detected. All three patients disclosed a prolonged survival and a stereotypical distal limbs involvement in the initial stages of the disease. By this report we demonstrate that D11Y SOD1 mutation is associated with a peculiar phenotype and we confirm its probable pathogenetic role.

KW - ALS

UR - http://hdl.handle.net/10807/3659

U2 - 10.1016/j.jns.2011.07.041

DO - 10.1016/j.jns.2011.07.041

M3 - Article

SN - 0022-510X

VL - 309

SP - 31

EP - 33

JO - Journal of the Neurological Sciences

JF - Journal of the Neurological Sciences

ER -

D11Y SOD1 mutation and benign ALS: a consistent genotype-phenotype correlation

Abstract

Keywords

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