Literature DB >> 20797884

Leukoencephalopathy with vanishing white matter caused by compound heterozygous mutations in mitochondrial complex I NDUFS1 subunit.

Hélène Pagniez-Mammeri, Pierre Landrieu, Alain Legrand, Abdelhamid Slama.   

Abstract

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Year:  2010        PMID： 20797884     DOI： 10.1016/j.ymgme.2010.07.005

Source DB:  PubMed          Journal:  Mol Genet Metab        ISSN： 1096-7192            Impact factor:   4.797


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  3 in total

1.  Progressive cavitating leukoencephalopathy associated with respiratory chain complex I deficiency and a novel mutation in NDUFS1.

Authors:  Mariana Ferreira; Alessandra Torraco; Teresa Rizza; Fabiana Fattori; Maria Chiara Meschini; Cinzia Castana; Nancy E Go; Frank E Nargang; Margarida Duarte; Fiorella Piemonte; Carlo Dionisi-Vici; Arnaldo Videira; Laura Vilarinho; Filippo M Santorelli; Rosalba Carrozzo; Enrico Bertini
Journal:  Neurogenetics       Date:  2011-01-04       Impact factor: 2.660

Review 2.  Adult-onset leukodystrophies from respiratory chain disorders: do they exist?

Authors:  Ettore Salsano; Laura Farina; Costanza Lamperti; Giuseppe Piscosquito; Franco Salerno; Lucia Morandi; Franco Carrara; Eleonora Lamantea; Massimo Zeviani; Graziella Uziel; Mario Savoiardo; Davide Pareyson
Journal:  J Neurol       Date:  2013-01-29       Impact factor: 4.849

Review 3.  Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases.

Authors:  S Koene; R J Rodenburg; M S van der Knaap; M A A P Willemsen; W Sperl; V Laugel; E Ostergaard; M Tarnopolsky; M A Martin; V Nesbitt; J Fletcher; S Edvardson; V Procaccio; A Slama; L P W J van den Heuvel; J A M Smeitink
Journal:  J Inherit Metab Dis       Date:  2012-05-30       Impact factor: 4.982
  3 in total

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