Literature DB >> 20581069

Cavitating leukoencephalopathy in a child carrying the mitochondrial A8344G mutation.

R Biancheri, D Rossi, D Cassandrini, A Rossi, C Bruno, F M Santorelli.   

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Year:  2010        PMID： 20581069      PMCID： PMC7965010          DOI： 10.3174/ajnr.A2182

Source DB:  PubMed          Journal:  AJNR Am J Neuroradiol        ISSN： 0195-6108            Impact factor:   3.825


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  4 in total

1.  Progressive cavitating leukoencephalopathy: a novel childhood disease.

Authors:  SakkuBai Naidu; Genila Bibat; Doris Lin; Peter Burger; Peter Barker; Sergio Rosemberg; Nancy Braverman; Hugo Arroyo; Michael Dowling; Ada Hamosh; Virginia Kimonis; Carol Blank; Agata Fiumara; Sergio Facchini; Bhim Singhal; Hugo Moser; Richard Kelley; Salvatore DiMauro
Journal:  Ann Neurol       Date:  2005-12       Impact factor: 10.422

2.  Invited article: an MRI-based approach to the diagnosis of white matter disorders.

Authors:  Raphael Schiffmann; Marjo S van der Knaap
Journal:  Neurology       Date:  2009-02-24       Impact factor: 9.910

3.  Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase.

Authors:  Valeria Massa; Erika Fernandez-Vizarra; Saad Alshahwan; Eman Bakhsh; Paola Goffrini; Ileana Ferrero; Paolo Mereghetti; Pio D'Adamo; Paolo Gasparini; Massimo Zeviani
Journal:  Am J Hum Genet       Date:  2008-05-22       Impact factor: 11.025

4.  Bilateral putaminal necrosis associated with the mitochondrial DNA A8344G myoclonus epilepsy with ragged red fibers (MERRF) mutation: an infantile case.

Authors:  Simona Orcesi; Ksenija Gorni; Cristiano Termine; Carla Uggetti; Pierangelo Veggiotti; Franco Carrara; Massimo Zeviani; Angela Berardinelli; Giovanni Lanzi
Journal:  J Child Neurol       Date:  2006-01       Impact factor: 1.987
  4 in total
  5 in total

Review 1.  Magnetic resonance imaging of anterior temporal lobe cysts in children: discriminating special imaging features in a particular group of diseases.

Authors:  Renato Hoffmann Nunes; Felipe Torres Pacheco; Antonio Jose da Rocha
Journal:  Neuroradiology       Date:  2014-04-23       Impact factor: 2.804

Review 2.  Posterior fossa involvement in the diagnosis of adult-onset inherited leukoencephalopathies.

Authors:  Xavier Ayrignac; Clemence Boutiere; Clarisse Carra-Dalliere; Pierre Labauge
Journal:  J Neurol       Date:  2016-04-28       Impact factor: 4.849

3.  Psoriasis, bulbar involvement, and diarrhea in late myoclonic epilepsy with ragged-red fibers-syndrome due to the m.8344A > G tRNA (Lys) mutation.

Authors:  Josef Finsterer; Gabor Geza Kovacs
Journal:  Iran J Neurol       Date:  2017-01-05

4.  Progressive cavitating leukoencephalopathy associated with a homozygous POLG mutation of 264C>G (p.F88L).

Authors:  Austin Shinagawa; Stephen Hugdal; Jay Babu; Rajesh Rangaswamy
Journal:  Radiol Case Rep       Date:  2020-05-01

5.  De novo mtDNA point mutations are common and have a low recurrence risk.

Authors:  Suzanne C E H Sallevelt; Christine E M de Die-Smulders; Alexandra T M Hendrickx; Debby M E I Hellebrekers; Irenaeus F M de Coo; Charlotte L Alston; Charlotte Knowles; Robert W Taylor; Robert McFarland; Hubert J M Smeets
Journal:  J Med Genet       Date:  2016-07-22       Impact factor: 6.318
  5 in total

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