Literature DB >> 19922148

Heterozygous D90A-SOD1 mutation in an Italian ALS patient with atypical presentation.

Paola Origone, Claudia Caponnetto, Maria Mascolo, Paola Mandich.   

Abstract

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Year:  2009        PMID： 19922148     DOI： 10.3109/17482960903055966

Source DB:  PubMed          Journal:  Amyotroph Lateral Scler        ISSN： 1471-180X


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  2 in total

1.  Heterozygous SOD1 D90A mutation presenting as slowly progressive predominant upper motor neuron amyotrophic lateral sclerosis.

Authors:  Marco Luigetti; Amelia Conte; Francesca Madia; Giuseppe Marangi; Marcella Zollino; Irene Mancuso; Michele Dileone; Alessandra Del Grande; Vincenzo Di Lazzaro; Pietro Attilio Tonali; Mario Sabatelli
Journal:  Neurol Sci       Date:  2009-08-15       Impact factor: 3.307

2.  SOD1 D91A variant in the southernmost tip of Europe: a heterozygous ALS patient resident on the island of Gozo.

Authors:  Maia Farrugia Wismayer; Andrew Farrugia Wismayer; Adrian Pace; Neville Vassallo; Ruben J Cauchi
Journal:  Eur J Hum Genet       Date:  2021-10-07       Impact factor: 5.351
  2 in total

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