Exonic deletions of FXN and early-onset friedreich ataxia

Archives of Neurology

Volumn 69, Issue 7, 2012, Pages 912-916

  Anheim, Mathieu ^a,b,c   Mariani, Louise Laure ^b   Calvas, Patrick ^d   Cheuret, Emmanuel ^e   Zagnoli, Fabien ^f   Odent, Sylvie ^g   Seguela, Claire ^h   Marelli, Cecilia ^a,b,c   Fritsch, Marleǹe ^h   Delaunoy, Jean Pierre ^h   Brice, Alexis ^a,b,c   Dürr, Alexandra ^a,b,c   Koenig, Michel ^h,i  

^a SORBONNE UNIVERSITÉ   (France)

^b PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^c Centre de Reference des Maladies Neurogenetiques de l'Enfant et de l'Adulte   (France)

^d UNIVERSITÉ DE TOULOUSE   (France)

^e HÔPITAL DES ENFANTS   (France)

^f Military Teaching Hospital Clermont Tonnerre   (France)

^g UNIVERSITÉ DE RENNES 1   (France)

^h HÔPITAL CIVIL   (France)

ⁱ UNIVERSITÉ DE STRASBOURG   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; FRATAXIN; GUANINE;

ADOLESCENT; ADULT; AGED; ANGINA PECTORIS; ARTICLE; AUTONOMIC DYSFUNCTION; CARDIOMYOPATHY; CHILD; CLINICAL FEATURE; DIABETES MELLITUS; DISEASE DURATION; DISEASE SEVERITY; EXON; FEMALE; FRIEDREICH ATAXIA; FXN GENE; GENE; GENE DELETION; GENE DOSAGE; GENE MUTATION; GENETIC ANALYSIS; HOMOZYGOSITY; HUMAN; INCIDENCE; MAJOR CLINICAL STUDY; MALE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; ONSET AGE; POINT MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SAMPLE SIZE; SCHOOL CHILD; SCOLIOSIS; SEQUENCE ANALYSIS; TRINUCLEOTIDE REPEAT; WHEELCHAIR;

ADULT; ANTIOXIDANTS; CARDIOMYOPATHIES; DISEASE PROGRESSION; ELECTROMYOGRAPHY; EXONS; FAMILY HEALTH; FEMALE; FRIEDREICH ATAXIA; HUMANS; IRON-BINDING PROTEINS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; SEQUENCE DELETION; TRINUCLEOTIDE REPEAT EXPANSION; UBIQUINONE;

EID: 84863808778     PISSN: 00039942     EISSN: 15383687     Source Type: Journal    
DOI: 10.1001/archneurol.2011.834     Document Type: Article

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