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Paper Details

Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults.
JAMA Neurol
23
2018
Children, Ile362Phe, Met43Ile, Neurologic, Neurologic disorders, OPA10, Participants, RTN4IP1, RTN4IP1 gene, Tyr51Cys, amino acid, central nervous system diseases, complex I, deafness, encephalopathies, growth retardation, intellectual disability, isolated and syndromic optic neuropathies, isolated optic atrophy, lactate, mitochondrial inherited diseases, mitochondrial quinone oxidoreductase, neurologic syndromes, nonsyndromic recessive optic neuropathies, optic atrophy, p.Arg103His, patient, patients, quinone, seizure, stridor, syndromic neurologic
Author NameAffiliation
Kyle ThompsonInstitute of Neuroscience, Newcastle University
Isabella MoroniIstituto di Ricovero e Cura a Carattere Scientifico, Foundation of the Carlo Besta Neurological Institute
Tim M StromInstitute of Human Genetics, Technische Universitat Munchen
Tim M StromInstitute of Human Genetics
In??s A BarbosaKing's College London School of Medicine
Michael A SimpsonKing's College London School of Medicine
Charu DeshpandeClinical Genetics Unit, Guy's and St Thomas' National Health Service Foundation Trust
Robert W TaylorInstitute of Neuroscience, Newcastle University
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Release 1.2