(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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21 December 2017

Gabriele Siciliano

15

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21 December 2017

Sandro Orru

20

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21 December 2017

Silvana Penco

22

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21 December 2017

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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21 December 2017

Giuseppe Greco

3

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21 December 2017

Giuseppe Bibbò

4

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21 December 2017

Loreta Ferrera

5

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21 December 2017

Valeria Marini

6

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21 December 2017

Renzo Causarano

7

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21 December 2017

Michela Casula

8

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21 December 2017

Giuliana Lando

9

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21 December 2017

Maria Cristina Patrosso

10

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21 December 2017

Paola Origone

12

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21 December 2017

Alessandro Marocchi

13

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21 December 2017

Alberto Del Corona

14

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21 December 2017

Paola Carrera

16

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21 December 2017

Vincenzo Mascia

17

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21 December 2017

Marcello Giagheddu

18

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21 December 2017

Cecilia Garrè

21

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21 December 2017

publication date

29 March 2005

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21 December 2017

published in

Journal of Neurology

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21 December 2017

volume

252

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21 December 2017

issue

7

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21 December 2017

page(s)

782-788

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21 December 2017

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

exact match

0 references

cites work

A screening for superoxide dismutase-1 D90A mutation in Italian patients with sporadic amyotrophic lateral sclerosis

1 reference

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

Echo of silence: silent mutations, RNA splicing, and neuromuscular diseases.

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

1 reference

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

1 reference

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.

1 reference

12 December 2020

Epidemiologic study of amyotrophic lateral sclerosis in Sardinia, Italy.

1 reference

12 December 2020

SOD1 missense mutation in an Italian family with ALS

1 reference

12 December 2020

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

1 reference

12 December 2020

Genetic aspects of amyotrophic lateral sclerosis and progressive bulbar paralysis

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

The genetics of motor neuron diseases

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Familial adult motor neuron disease: amyotrophic lateral sclerosis

1 reference

12 December 2020

Genetic linkage analysis of familial amyotrophic lateral sclerosis using human chromosome 21 microsatellite DNA markers.

1 reference

12 December 2020

An improved protocol for the analysis of SOD1 gene mutations, and a new mutation in exon 4.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Genetics of ALS in Italian families

1 reference

12 December 2020

DNA deletion associated with hereditary neuropathy with liability to pressure palsies

1 reference

12 December 2020

Consensus guidelines for the design and implementation of clinical trials in ALS. World Federation of Neurology committee on Research

1 reference

12 December 2020

A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies

1 reference

12 December 2020

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

1 reference

12 December 2020

Erratum: Genetic inroads in familial ALS

1 reference

12 December 2020

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

1 reference

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

1 reference

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