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Literature DB >> 11968448

Clinical features and genetics of myoclonic epilepsy with ragged red fibers.

Salvatore DiMauro¹, Michio Hirano, Petra Kaufmann, Kurenai Tanji, Mary Sano, Dikoma C Shungu, Eduardo Bonilla, Darryl C DeVivo.

Abstract

Entities: Disease

Mesh：

Year: 2002 PMID： 11968448

Source DB: PubMed Journal: Adv Neurol ISSN： 0091-3952

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13 in total

Review 1. Progressive myoclonic epilepsies: review of clinical, molecular and therapeutic aspects.

Authors: Luis Felipe Mendonça de Siqueira
Journal: J Neurol Date: 2010-07-01 Impact factor: 4.849

2. Maternally inherited deafness and unusual phenotypic manifestations associated with A3243G mitochondrial DNA mutation.

Authors: Katalin Komlósi; Richárd Kellermayer; Anita Maász; Viktória Havasi; Katalin Hollódy; Olga Vincze; Hajnalka Merkli; Endre Pál; Béla Melegh
Journal: Pathol Oncol Res Date: 2005-07-01 Impact factor: 3.201

Review 3. Mitochondrial biogenesis: a therapeutic target for neurodevelopmental disorders and neurodegenerative diseases.

Authors: Martine Uittenbogaard; Anne Chiaramello
Journal: Curr Pharm Des Date: 2014 Impact factor: 3.116

Review 4. Drug Treatment of Progressive Myoclonic Epilepsy.

Authors: Gregory L Holmes
Journal: Paediatr Drugs Date: 2020-04 Impact factor: 3.022

Review 5. MELAS syndrome and cardiomyopathy: linking mitochondrial function to heart failure pathogenesis.

Authors: Ying-Han R Hsu; Haran Yogasundaram; Nirmal Parajuli; Lucas Valtuille; Consolato Sergi; Gavin Y Oudit
Journal: Heart Fail Rev Date: 2016-01 Impact factor: 4.214

Review 6. A novel diagnostic approach to patients with myoclonus.

Authors: Rodi Zutt; Martje E van Egmond; Jan Willem Elting; Peter Jan van Laar; Oebele F Brouwer; Deborah A Sival; Hubertus P Kremer; Tom J de Koning; Marina A Tijssen
Journal: Nat Rev Neurol Date: 2015-11-10 Impact factor: 42.937

7. "Myo-cardiomyopathy" is commonly associated with the A8344G "MERRF" mutation.

Authors: Michela Catteruccia; Donato Sauchelli; Giacomo Della Marca; Guido Primiano; Cristina Cuccagna; Daniela Bernardo; Milena Leo; Antonella Camporeale; Tommaso Sanna; Alessandro Cianfoni; Serenella Servidei
Journal: J Neurol Date: 2015-01-06 Impact factor: 4.849