Literature DB >> 23334465

Homozygous missense mutation of NDUFV1 as the cause of infantile bilateral striatal necrosis.

Dennis Lal, Kerstin Becker, Susanne Motameny, Janine Altmüller, Holger Thiele, Peter Nürnberg, Uwe Ahting, Boris Rolinski, Bernd A Neubauer, Andreas Hahn.   

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Year:  2013        PMID： 23334465     DOI： 10.1007/s10048-013-0355-z

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


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  6 in total

1.  Mapping short DNA sequencing reads and calling variants using mapping quality scores.

Authors:  Heng Li; Jue Ruan; Richard Durbin
Journal:  Genome Res       Date:  2008-08-19       Impact factor: 9.043

2.  SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis.

Authors:  Ronen Spiegel; Avraham Shaag; Simon Edvardson; Hanna Mandel; Polina Stepensky; Stavit A Shalev; Yoseph Horovitz; Ophry Pines; Orly Elpeleg
Journal:  Ann Neurol       Date:  2009-09       Impact factor: 10.422

3.  Familial infantile bilateral striatal necrosis: clinical features and response to biotin treatment.

Authors:  R Straussberg; Z Shorer; R Weitz; L Basel; L Kornreich; C I Corie; L Harel; R Djaldetti; J Amir
Journal:  Neurology       Date:  2002-10-08       Impact factor: 9.910

4.  Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency.

Authors:  P Bénit; D Chretien; N Kadhom; P de Lonlay-Debeney; V Cormier-Daire; A Cabral; S Peudenier; P Rustin; A Munnich; A Rötig
Journal:  Am J Hum Genet       Date:  2001-05-07       Impact factor: 11.025

5.  The Sequence Alignment/Map format and SAMtools.

Authors:  Heng Li; Bob Handsaker; Alec Wysoker; Tim Fennell; Jue Ruan; Nils Homer; Gabor Marth; Goncalo Abecasis; Richard Durbin
Journal:  Bioinformatics       Date:  2009-06-08       Impact factor: 6.937

Review 6.  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
  6 in total
  6 in total

1.  Cystic Leucoencephalopathy in NDUFV1 Mutation.

Authors:  Yamini Wadhwa; Seema Rohilla; Jaya Shankar Kaushik
Journal:  Indian J Pediatr       Date:  2018-06-09       Impact factor: 1.967

Review 2.  Riboflavin in Neurological Diseases: A Narrative Review.

Authors:  Domenico Plantone; Matteo Pardini; Giuseppe Rinaldi
Journal:  Clin Drug Investig       Date:  2021-04-22       Impact factor: 2.859

3.  Mitochondrial Complex III Deficiency Caused by TTC19 Defects: Report of a Novel Mutation and Review of Literature.

Authors:  Anna Ardissone; Tiziana Granata; Andrea Legati; Daria Diodato; Laura Melchionda; Eleonora Lamantea; Barbara Garavaglia; Daniele Ghezzi; Isabella Moroni
Journal:  JIMD Rep       Date:  2015-03-13

4.  Thiamine transporter-2 deficiency: outcome and treatment monitoring.

Authors:  Juan Darío Ortigoza-Escobar; Mercedes Serrano; Marta Molero; Alfonso Oyarzabal; Mónica Rebollo; Jordi Muchart; Rafael Artuch; Pilar Rodríguez-Pombo; Belén Pérez-Dueñas
Journal:  Orphanet J Rare Dis       Date:  2014-06-23       Impact factor: 4.123

5.  Phenotype of NDUFV1-related Disease.

Authors:  Josef Finsterer; Sinda Zarrouk-Mahjoub
Journal:  J Pediatr Neurosci       Date:  2019-09-27

6.  A multicenter study on Leigh syndrome: disease course and predictors of survival.

Authors:  Kalliopi Sofou; Irenaeus F M De Coo; Pirjo Isohanni; Elsebet Ostergaard; Karin Naess; Linda De Meirleir; Charalampos Tzoulis; Johanna Uusimaa; Isabell B De Angst; Tuula Lönnqvist; Helena Pihko; Katariina Mankinen; Laurence A Bindoff; Már Tulinius; Niklas Darin
Journal:  Orphanet J Rare Dis       Date:  2014-04-15       Impact factor: 4.123
  6 in total

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