Novel (ovario) leukodystrophy related to AARS2 mutations

Neurology

Volumn 82, Issue 23, 2014, Pages 2063-2071

  Dallabona, Cristina ^a   Diodato, Daria ^b   Kevelam, Sietske H ^f   Haack, Tobias B ^i,j   Wong, Lee Jun ^k   Salomons, Gajja S ^g   Baruffini, Enrico ^a   Melchionda, Laura ^b   Mariotti, Caterina ^c   Strom, Tim M ^i,j   Meitinger, Thomas ^i,j   Prokisch, Holger ^i,j   Chapman, Kim ^l   Colley, Alison ⁿ   Rocha, Helena ^o   Ounap, Katrin ^p   Schiffmann, Raphael ^q   Salsano, Ettore ^d   Savoiardo, Mario ^e   Hamilton, Eline M ^f   Abbink, Truus E M ^f   Wolf, Nicole I ^f   Ferrero, Ileana ^a   Lamperti, Costanza ^b   Zeviani, Massimo ^r   Vanderver, Adeline ^m   Ghezzi, Daniele ^b   Van Der Knaap, Marjo S ^f,h   more..

^a UNIVERSITY OF PARMA   (Italy)

^b Unit of Molecular Neurogenetics   (Italy)

^c SOSD Genetics of Neurodegenerative and Metabolic Diseases   (Italy)

^d Departments of Clinical Neurosciences   (Italy)

^e DEPARTMENT OF NEUROSURGERY   (Italy)

^f Department of Child Neurology ^*  (Netherlands)

^g Metabolism Unit   (Netherlands)

^h VU UNIVERSITY MEDICAL CENTER   (Netherlands)

ⁱ TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^j INSTITUTE OF EPIDEMIOLOGY   (Germany)

^k BAYLOR COLLEGE OF MEDICINE   (United States)

^l Center for Genetic Medicine Research   (United States)

^m CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

ⁿ LIVERPOOL HOSPITAL   (Australia)

^o UNIVERSITY OF PORTO   (Portugal)

^p TARTU UNIVERSITY CLINICS   (Estonia)

^q BAYLOR UNIVERSITY MEDICAL CENTER   (United States)

^r UNIVERSITY OF CAMBRIDGE   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE TRANSFER RNA LIGASE; ALANYL TRNA SYNTHETASE 2; GENOMIC DNA; MITOCHONDRIAL DNA; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; ATAXIA; CEREBELLUM ATROPHY; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; FRONTAL LOBE; GENE MUTATION; GENE SEQUENCE; HETEROZYGOTE; HUMAN; HUMAN TISSUE; LEUKODYSTROPHY; LEUKOENCEPHALOPATHY; MALE; MENTAL DETERIORATION; MIDDLE AGED; MISSENSE MUTATION; MUSCLE BIOPSY; MUTATION; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; OVARY INSUFFICIENCY; OXIDATIVE PHOSPHORYLATION; PATHOGENICITY; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SPASTICITY;

ADOLESCENT; ADULT; ALANINE-TRNA LIGASE; ATAXIA; ATROPHY; COGNITION DISORDERS; EXONS; FEMALE; HUMANS; LEUKOENCEPHALOPATHIES; MAGNETIC RESONANCE IMAGING; MALE; MUSCLE SPASTICITY; MUTATION; PHENOTYPE; PRIMARY OVARIAN INSUFFICIENCY; YOUNG ADULT;

EID: 84903955232     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0000000000000497     Document Type: Article

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