Friedreich's ataxia: Point mutations and clinical presentation of compound heterozygotes

Annals of Neurology

Volumn 45, Issue 2, 1999, Pages 200-206

  Cossée, Mireille ^a   Dürr, Alexandra ^b   Schmitt, Michèle ^a   Dahl, Niklas ^e   Trouillas, Paul ^c   Allinson, Patricia ^f   Kostrzewa, Markus ^g   Nivelon Chevallier, Annie ^d   Gustavson, Karl Henrik ^e   Kohlschütter, Alfried ^h   Müller, Ulrich ^g   Mandel, Jean Louis ^a   Brice, Alexis ^a   Koenig, Michel ^a,k   Cavalcanti, Francesca ⁱ   Tammaro, Angela ⁱ   De Michele, Giuseppe ⁱ   Filla, Alessandro ⁱ   Cocozza, Sergio ⁱ   Labuda, Malgorzata ^j   Montermini, Laura ^j   Poirier, Josée ^j   Pandolfo, Massimo ^j   more..

^a UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^b PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^c HÔPITAL NEUROLOGIQUE   (France)

^d Medical University of Dijon   (France)

^e UNIVERSITY CHILDREN S HOSPITAL   (Sweden)

^f UNIVERSITY OF VIRGINIA CHILDREN S HOSPITAL   (United States)

^g JUSTUS LIEBIG UNIVERSITY   (Germany)

^h UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

ⁱ UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^j UNIVERSITÉ DE MONTRÉAL   (Canada)

^k INSTITUT DE GÉNÉTIQUE ET DE BIOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

FRATAXIN; TRINUCLEOTIDE;

ADOLESCENT; ADULT; ARTICLE; CEREBELLAR ATAXIA; CHILD; CLINICAL FEATURE; CONTROLLED STUDY; DYSARTHRIA; FEMALE; FRIEDREICH ATAXIA; GAIT DISORDER; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; OPTIC DISK ANOMALY; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; SPASTICITY; TENDON REFLEX; TRINUCLEOTIDE REPEAT;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CHROMOSOME MAPPING; DNA MUTATIONAL ANALYSIS; FEMALE; FRIEDREICH ATAXIA; HETEROZYGOTE; HUMANS; MALE; POINT MUTATION;

EID: 0344820730     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/1531-8249(199902)45:2<200::AID-ANA10>3.0.CO;2-U     Document Type: Article

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