SOD1 mutations in amyotrophic lateral sclerosis. Results from a multicenter Italian study (Q46402935)

21 December 2017

title

SOD1 mutations in amyotrophic lateral sclerosis. Results from a multicenter Italian study (English)

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21 December 2017

amyotrophic lateral sclerosis

main subject

Italy

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author

Stefania Battistini

1

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Gabriele Siciliano

15

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Sandro Orru

20

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Silvana Penco

22

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Claudia Caponnetto

object named as

Claudia Caponnetto

11

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Carlo Carcassi

object named as

Carlo Carcassi

19

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author name string

Fabio Giannini

2

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Giuseppe Greco

3

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Giuseppe Bibbò

4

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Loreta Ferrera

5

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Valeria Marini

6

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Renzo Causarano

7

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Michela Casula

8

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Giuliana Lando

9

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Maria Cristina Patrosso

10

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Paola Origone

12

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Alessandro Marocchi

13

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Alberto Del Corona

14

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Paola Carrera

16

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Vincenzo Mascia

17

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Marcello Giagheddu

18

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Cecilia Garrè

21

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publication date

29 March 2005

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21 December 2017

published in

Journal of Neurology

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volume

252

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issue

7

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page(s)

782-788

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https://scigraph.springernature.com/pub.10.1007/s00415-005-0742-y

exact match

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cites work

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A SOD1 gene mutation in a patient with slowly progressing familial ALS.

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00415-005-0742-Y

D90A heterozygosity in the SOD1 gene is associated with familial and apparently sporadic amyotrophic lateral sclerosis

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00415-005-0742-Y

A novel locus for late onset amyotrophic lateral sclerosis/motor neurone disease variant at 20q13

21 January 2018

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12 December 2020

Identification of two novel mutations and a new polymorphism in the gene for Cu/Zn superoxide dismutase in patients with amyotrophic lateral sclerosis.

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12 December 2020

Epidemiologic study of amyotrophic lateral sclerosis in Sardinia, Italy.

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SOD1 missense mutation in an Italian family with ALS

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A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2

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Genetic aspects of amyotrophic lateral sclerosis and progressive bulbar paralysis

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D90A-SOD1 mediated amyotrophic lateral sclerosis: a single founder for all cases with evidence for a Cis-acting disease modifier in the recessive haplotype

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Heterogeneous distribution of amyotrophic lateral sclerosis patients with SOD-1 gene mutations: preliminary data on an Italian survey.

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12 December 2020

Superoxide dismutase gene mutations in Italian patients with familial and sporadic amyotrophic lateral sclerosis: identification of three novel missense mutations

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The genetics of motor neuron diseases

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Three novel mutations and two variants in the gene for Cu/Zn superoxide dismutase in familial amyotrophic lateral sclerosis.

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Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutase

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Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis

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Clustering of ALS patients in central Italy due to the occurrence of the L84F SOD1 gene mutation

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DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)

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Mutational analysis of the Cu/Zn superoxide dismutase gene in 23 familial and 69 sporadic cases of amyotrophic lateral sclerosis in Belgium

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12 December 2020

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Listening to silence and understanding nonsense: exonic mutations that affect splicing

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An Italian dominant FALS Leu144Phe SOD1 mutation: genotype-phenotype correlation

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12 December 2020

Recessive amyotrophic lateral sclerosis families with the D90A SOD1 mutation share a common founder: evidence for a linked protective factor

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Erratum: Genetic inroads in familial ALS

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12 December 2020

Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes

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12 December 2020

Autosomal recessive adult-onset amyotrophic lateral sclerosis associated with homozygosity for Asp90Ala CuZn-superoxide dismutase mutation. A clinical and genealogical study of 36 patients

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12 December 2020

10.1007/S00415-005-0742-Y

Identifiers

DOI

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21 December 2017

PubMed ID

15789135

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21 December 2017