Literature DB >> 23949607

Brachial amyotrophic diplegia associated with the a140a superoxide dismutase 1 mutation.

L Di Vito1, D de Biase, A Pession, M Visani, R Liguori, S Zambito Marsala, V Leta, P De Carolis, V Donadio.   

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Year:  2013        PMID： 23949607     DOI： 10.1007/s10048-013-0369-6

Source DB:  PubMed          Journal:  Neurogenetics        ISSN： 1364-6745            Impact factor:   2.660


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  5 in total

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

Authors:  B A Hosler; G A Nicholson; P C Sapp; W Chin; R W Orrell; J S de Belleroche; J Esteban; L J Hayward; D Mckenna-Yasek; L Yeung; A K Cherryson; J E Dench; S D Wilton; N G Laing; H R Horvitz; R H Brown
Journal:  Neuromuscul Disord       Date:  1996-10       Impact factor: 4.296

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

Authors:  W Robberecht; T Aguirre; L Van den Bosch; P Tilkin; J J Cassiman; G Matthijs
Journal:  Neurology       Date:  1996-11       Impact factor: 9.910

3.  Mutational analysis of the Cu/Zn superoxide dismutase gene in a Catalan ALS population: should all sporadic ALS cases also be screened for SOD1?

Authors:  Josep Gamez; Marc Corbera-Bellalta; Gisela Nogales; Nuria Raguer; Elena García-Arumí; Mercè Badia-Canto; E Lladó-Carbó; José Alvarez-Sabín
Journal:  J Neurol Sci       Date:  2006-05-03       Impact factor: 3.181

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

Authors:  Peter M Andersen; Katherine B Sims; Winnie W Xin; Rosemary Kiely; Gilmore O'Neill; John Ravits; Erik Pioro; Yadollah Harati; Richard D Brower; Johanan S Levine; Hedvika U Heinicke; William Seltzer; Michael Boss; Robert H Brown
Journal:  Amyotroph Lateral Scler Other Motor Neuron Disord       Date:  2003-06

5.  Aggressive familial ALS with unusual brain MRI and a SOD1 gene mutation.

Authors:  Sergiu C Blumen; Rivka Inzelberg; Puiu Nisipeanu; Ralph L Carasso; Daniel Oved; Orna Aizenstein; Vivian E Drory; Christina Bergstrom; Peter M Andersen
Journal:  Amyotroph Lateral Scler       Date:  2010
  5 in total
  3 in total

Review 1.  Amyotrophic Lateral Sclerosis Regional Variants (Brachial Amyotrophic Diplegia, Leg Amyotrophic Diplegia, and Isolated Bulbar Amyotrophic Lateral Sclerosis).

Authors:  Omar Jawdat; Jeffrey M Statland; Richard J Barohn; Jonathan S Katz; Mazen M Dimachkie
Journal:  Neurol Clin       Date:  2015-09-08       Impact factor: 3.806

2.  Multiple variants in families with amyotrophic lateral sclerosis and frontotemporal dementia related to C9orf72 repeat expansion: further observations on their oligogenic nature.

Authors:  Maria Pia Giannoccaro; Anna Bartoletti-Stella; Silvia Piras; Annalisa Pession; Patrizia De Massis; Federico Oppi; Michelangelo Stanzani-Maserati; Elena Pasini; Simone Baiardi; Patrizia Avoni; Piero Parchi; Rocco Liguori; Sabina Capellari
Journal:  J Neurol       Date:  2017-06-15       Impact factor: 4.849

3.  Prevalence of the single-nucleotide polymorphism rs11554137 (IDH1105GGT) in brain tumors of a cohort of Italian patients.

Authors:  Giorgia Acquaviva; Michela Visani; Dario de Biase; Gianluca Marucci; Enrico Franceschi; Alicia Tosoni; Alba A Brandes; Kerry J Rhoden; Annalisa Pession; Giovanni Tallini
Journal:  Sci Rep       Date:  2018-03-13       Impact factor: 4.379
  3 in total

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