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Epileptic phenotypes in children with respiratory chain disorders.

Epilepsia, July 2010, Vol.51(7), pp.1225-1235 [Peer Reviewed Journal]

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Mutation in a primate-conserved retrotransposon reveals a noncoding RNA as a mediator of infantile encephalopathy.

Proceedings of the National Academy of Sciences of the United States of America, March 27, 2012, Vol.109(13), pp.4980-4985 [Peer Reviewed Journal]

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Mutations in mitochondrial ribosomal protein MRPL12 leads to growth retardation, neurological deterioration and mitochondrial translation deficiency

BBA - Molecular Basis of Disease, August 2013, Vol.1832(8), pp.1304-1312 [Peer Reviewed Journal]

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Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation

The American Journal of Human Genetics, 01 February 2018, Vol.102(2), pp.266-277 [Peer Reviewed Journal]

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Mutation in PNPT1, which Encodes a Polyribonucleotide Nucleotidyltransferase, Impairs RNA Import into Mitochondria and Causes Respiratory-Chain Deficiency

The American Journal of Human Genetics, 02 November 2012, Vol.91(5), pp.912-918 [Peer Reviewed Journal]

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De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy

Nature Genetics, 2012, Vol.44(11), p.1255 [Peer Reviewed Journal]

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Low dose clozapine controls adult-onset psychosis associated with the neurogenic ataxia-retinitis pigmentosa (NARP) mutation

Molecular Genetics and Metabolism Reports, March 2017, Vol.10, pp.20-22 [Peer Reviewed Journal]

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Authors' reply — Clozapine for mitochondrial psychosis

Molecular Genetics and Metabolism Reports, March 2017, Vol.10, pp.101-101 [Peer Reviewed Journal]

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Mutations in DOCK7 in Individuals with Epileptic Encephalopathy and Cortical Blindness

The American Journal of Human Genetics, 05 June 2014, Vol.94(6), pp.891-897 [Peer Reviewed Journal]

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Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome

The American Journal of Human Genetics, 05 May 2016, Vol.98(5), pp.971-980 [Peer Reviewed Journal]

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by this Author/Contributor:

  1. Munnich, Arnold
  2. Boddaert, Nathalie
  3. Munnich, A.
  4. Boddaert, N.
  5. Rio, Marlène

on this subject:

  1. Humans
  2. Mutation
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  5. Brain

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