Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression

Orphanet Journal of Rare Diseases

Volumn 8, Issue 1, 2013, Pages

  Mignot, Cyril ^a,b,c,d   Apartis, Emmanuelle ^d,e,f   Durr, Alexandra ^a,d,f,g   Marques Lourenço, Charles ^h   Charles, Perrine ^a,c,d   Devos, David ⁱ   Moreau, Caroline ⁱ   De Lonlay, Pascale ^j   Drouot, Nathalie ^k   Burglen, Lydie ^b,l   Kempf, Nadine ^m   Nourisson, Elsa ^m   Chantot Bastaraud, Sandra ^b   Lebre, Anne Sophie ⁿ   Rio, Marlène ^o   Chaix, Yves ^f,p   Bieth, Eric ^q   Roze, Emmanuel ^a,f   Bonnet, Isabelle ^r   Canaple, Sandrine ^s   Rastel, Coralie ^a,c   Brice, Alexis ^a,d,f,g   Rötig, Agnès ^t   Desguerre, Isabelle ^o   Tranchant, Christine ^k,u   Koenig, Michel ^k,m   Anheim, Mathieu ^a,k,u   more..

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b ARMAND TROUSSEAU HOSPITAL   (France)

^c Centre de Rèfèrence 'dè Ficiences Intellectuelles de Causes Rares   (France)

^d SORBONNE UNIVERSITÉ   (France)

^e HÔPITAL SAINT ANTOINE   (France)

^f INSERM   (France)

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

^h University of Sao Polo   (Brazil)

ⁱ UNIV LILLE   (France)

^j ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^k UNIVERSITÉ DE STRASBOURG   (France)

^l Centre de Référence des Malformations et Maladies Congénitales du Cervelet   (France)

^m UNIVERSITY HOSPITAL OF STRASBOURG   (France)

ⁿ UNIVERSITÉ PARIS DESCARTES   (France)

^o HÔPITAL NECKER ENFANTS MALADES   (France)

^p HÔPITAL DES ENFANTS   (France)

^q CHU PURPAN   (France)

^r Service de Neurologie   (France)

^s AMIENS UNIVERSITY HOSPITAL   (France)

^t IMAGINE INSTITUTE   (France)

^u HÔPITAL DE HAUTEPIERRE   (France)

more..

Author keywords

Cerebellar ataxia; Genes; Mitochondrial disorders; Movement disorder; Recessive; Seizure disorder

Indexed keywords

ANTICONVULSIVE AGENT; AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA 2 PROTEIN; IDEBENONE; LACTIC ACID; NUCLEIC ACID BINDING PROTEIN; UBIDECARENONE; UBIQUINONE; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANOREXIA; ARTICLE; ATAXIC GAIT; BRAIN ATROPHY; BRAIN DEGENERATION; CEREBELLAR ATAXIA; CEREBELLUM ATROPHY; CEREBROVASCULAR ACCIDENT; CHILD; CHOREA; CLINICAL ARTICLE; COMPLEX II DEFICIENCY; COMPLEX III DEFICIENCY; DETERIORATION; DIARRHEA; DISABILITY SEVERITY; DISEASE COURSE; DRUG WITHDRAWAL; DYSTONIA; ELECTROENCEPHALOGRAM; EPILEPSY; EPILEPTIC STATE; FEMALE; FOCAL HAND DYSTONIA; GENE DELETION; GENOTYPE; HUMAN; INFANTILE SPASM; INTELLECTUAL IMPAIRMENT; LACTATE BLOOD LEVEL; MALE; MISSENSE MUTATION; MOLECULAR DIAGNOSIS; MOLECULAR GENETICS; MOTOR DYSFUNCTION; MUSCLE BIOPSY; MYOCLONUS; NECK MUSCLE; NERVE DEGENERATION; NEUROIMAGING; NEUROLOGIC DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PHENOTYPE; PHENOTYPIC VARIATION; PRESCHOOL CHILD; PYRAMIDAL SIGN; PYRAMIDAL TRACT; SCHOOL CHILD; SEIZURE; STOP CODON; STROKE LIKE EPISODE; SYSTEMIC LUPUS ERYTHEMATOSUS; TREMOR; VISUAL IMPAIRMENT; WALKING AID;

ADOLESCENT; ADULT; CEREBELLAR ATAXIA; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; INFANT; MALE; PHENOTYPE; YOUNG ADULT;

EID: 84886179220     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-8-173     Document Type: Article

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