The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia

Neurology

Volumn 83, Issue 12, 2014, Pages 1087-1095

  Méneret, Aurélie ^a,e   Ahmar Beaugendre, Yara ^f   Rieunier, Guillaume ^g   Mahlaoui, Nizar ^b,h,i,k   Gaymard, Bertrand ^e   Apartis, Emmanuelle ^a,e,f   Tranchant, Christine ^m,n   Rivaud Péchoux, Sophie ^a,e   Degos, Bertrand ^b,e   Benyahia, Baya ^c   Suarez, Felipe ^i,j,k   Maisonobe, Thierry ^b   Koenig, Michel ^m,n,o   Durr, Alexandra ^a,c,e   Stern, Marc Henri ^g,p   D'Enghien, Catherine Dubois ^h,i,p   Fischer, Alain ^k   Vidailhet, Marie ^a,b,e   Stoppa Lyonnet, Dominique ^g,l,p   Grabli, David ^a,b,e   Anheim, Mathieu ^d,m,n   more..

^a INSTITUT DU CERVEAU ET DE LA MOELLE ÉPINIÈRE   (France)

^b ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^c Unité Fonctionnelle de Génétique Chromosomique   (France)

^d PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^e SORBONNE UNIVERSITÉ   (France)

^f HÔPITAL SAINT ANTOINE   (France)

^g INSTITUT CURIE   (France)

^h Unité d'Immuno Hématologie et Rhumatologie Pédiatriques   (France)

ⁱ CEREDIH   (France)

^j HÔPITAL NECKER ENFANTS MALADES   (France)

^k Imagine Institute   (France)

^l UNIVERSITÉ PARIS DESCARTES   (France)

^m HÔPITAL CIVIL   (France)

ⁿ UNIVERSITÉ DE STRASBOURG   (France)

^o INSERM   (France)

^p INSTITUT CURIE   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA FETOPROTEIN; ATM PROTEIN; LEVODOPA; ATM PROTEIN, HUMAN; IMMUNOGLOBULIN;

ADULT; ALPHA FETOPROTEIN BLOOD LEVEL; ARTICLE; ATAXIA; ATAXIA TELANGIECTASIA; CEREBELLAR ATAXIA; CHROMOSOMAL INSTABILITY; CLINICAL ARTICLE; CLINICAL ASSESSMENT; CLINICAL EVALUATION; CLINICAL FEATURE; CONTROLLED STUDY; DYSARTHRIA; DYSTONIA; GENETIC ANALYSIS; HUMAN; IMMUNOGLOBULIN DEFICIENCY; LABORATORY TEST; LATENT PERIOD; LONG TERM SURVIVAL; MISSENSE MUTATION; MOTOR DYSFUNCTION; MULTICENTER STUDY; MYOCLONUS; NEUROIMAGING; NEUROPHYSIOLOGY; ONSET AGE; PHENOTYPE; PLEIOTROPY; PRIORITY JOURNAL; PYRAMIDAL SIGN; SUBCORTEX; TELANGIECTASIA; VIDEOOCULOGRAPHY; WALKING; YOUNG ADULT; COHORT ANALYSIS; DEFICIENCY; DISEASE COURSE; EYE MOVEMENT DISORDER; FEMALE; GENETICS; MALE; OCULOGRAPHY; PATHOPHYSIOLOGY; SEVERITY OF ILLNESS INDEX; WALKING DIFFICULTY;

ADULT; AGE OF ONSET; ALPHA-FETOPROTEINS; ATAXIA TELANGIECTASIA; ATAXIA TELANGIECTASIA MUTATED PROTEINS; CHROMOSOMAL INSTABILITY; COHORT STUDIES; DISEASE PROGRESSION; DYSARTHRIA; DYSTONIA; EYE MOVEMENT MEASUREMENTS; FEMALE; GENETIC PLEIOTROPY; HUMANS; IMMUNOGLOBULINS; MALE; MOBILITY LIMITATION; MOVEMENT DISORDERS; MUTATION, MISSENSE; MYOCLONUS; OCULAR MOTILITY DISORDERS; PHENOTYPE; SEVERITY OF ILLNESS INDEX; YOUNG ADULT;

EID: 84922249420     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0000000000000794     Document Type: Article

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