The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration

Neurology

Volumn 64, Issue 10, 2005, Pages 1810-1812

  Pellecchia, Maria Teresa ^a   Valente, E M ^b   Cif, L ^c   Salvi, S ^b   Albanese, A ^d,e   Scarano, V ^a   Bonuccelli, U ^f   Bentivoglio, A R ^g   D'Amico, A ^h   Marelli, C ^d,i   Di Giorgio, A ^b   Coubes, P ^c   Barone, P ^a   Dallapiccola, B ^j  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b Mendel Institute   (Italy)

^c GUI DE CHAULIAC HOSPITAL   (France)

^d DEPARTMENT OF NEUROSURGERY   (Italy)

^e UNIVERSITÀ CATTOLICA DEL SACRO CUORE   (Italy)

^f UNIVERSITY OF PISA   (Italy)

^g CATHOLIC UNIVERSITY   (Italy)

^h BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

ⁱ UNIVERSITY OF MILANO BICOCCA   (Italy)

^j SAPIENZA UNIVERSITY OF ROME   (Italy)

more..

Author keywords

[No Author keywords available]

Indexed keywords

PANTOTHENATE KINASE;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CLINICAL ARTICLE; DISEASE ASSOCIATION; DISEASE CLASSIFICATION; FEMALE; GENE; GENE MUTATION; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; GILLES DE LA TOURETTE SYNDROME; HUMAN; MALE; MUTATIONAL ANALYSIS; NERVE DEGENERATION; OBSESSIVE COMPULSIVE DISORDER; PANK2 GENE; PANTOTHENATE KINASE ASSOCIATED NEURODEGENERATION; PHENOTYPE; PRIORITY JOURNAL; RARE DISEASE; TIC;

ADOLESCENT; ADULT; BRAIN DISEASES, METABOLIC, INBORN; CHILD; COENZYME A; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC SCREENING; GLOBUS PALLIDUS; HALLERVORDEN-SPATZ SYNDROME; HEREDODEGENERATIVE DISORDERS, NERVOUS SYSTEM; HUMANS; IRON; IRON METABOLISM DISORDERS; MALE; MENTAL DISORDERS; MIDDLE AGED; MUTATION; OBSESSIVE-COMPULSIVE DISORDER; PHENOTYPE; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR); PYRAMIDAL TRACTS; TICS;

EID: 21044449726     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000161843.52641.EC     Document Type: Article

References (10)

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