Literature DB >> 29480377

Phenotypic manifestations of the m.8969G>A variant.

Josef Finsterer1, Sinda Zarrouk-Mahjoub2.   

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Year:  2018        PMID： 29480377     DOI： 10.1007/s10048-018-0543-y

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


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  6 in total

Review 1.  Therapeutic strategies for mitochondrial disorders.

Authors:  Josef Finsterer; Parayil Sankaran Bindu
Journal:  Pediatr Neurol       Date:  2014-11-15       Impact factor: 3.372

Review 2.  MELAS with recurrent complex partial seizures, nonconvulsive status epilepticus, psychosis, and behavioral disturbances: case analysis with literature review.

Authors:  Kenneth R Kaufman; Nicole Zuber; Maria A Rueda-Lara; Anthony Tobia
Journal:  Epilepsy Behav       Date:  2010-06-26       Impact factor: 2.937

Review 3.  MERRF Classification: Implications for Diagnosis and Clinical Trials.

Authors:  Josef Finsterer; Sinda Zarrouk-Mahjoub; John M Shoffner
Journal:  Pediatr Neurol       Date:  2017-12-13       Impact factor: 3.372

4.  Defective mitochondrial ATPase due to rare mtDNA m.8969G>A mutation-causing lactic acidosis, intellectual disability, and poor growth.

Authors:  Pirjo Isohanni; Christopher J Carroll; Christopher B Jackson; Max Pohjanpelto; Tuula Lönnqvist; Anu Suomalainen
Journal:  Neurogenetics       Date:  2018-01-19       Impact factor: 2.660

Review 5.  Mitochondrial disorders of the retinal ganglion cells and the optic nerve.

Authors:  Josef Finsterer; Michelangelo Mancuso; Davide Pareyson; Jean-Marc Burgunder; Thomas Klopstock
Journal:  Mitochondrion       Date:  2017-10-18       Impact factor: 4.160

6.  High Mitochondrial DNA Copy Number Is a Protective Factor From Vision Loss in Heteroplasmic Leber's Hereditary Optic Neuropathy (LHON).

Authors:  Angelica Bianco; Luigi Bisceglia; Luciana Russo; Luigi L Palese; Leonardo D'Agruma; Sonia Emperador; Julio Montoya; Silvana Guerriero; Vittoria Petruzzella
Journal:  Invest Ophthalmol Vis Sci       Date:  2017-04-01       Impact factor: 4.799
  6 in total

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