Different patterns of cerebellar abnormality and hypomyelination between POLR3A and POLR3B mutations

Brain and Development

Volumn 36, Issue 3, 2014, Pages 259-263

  Takanashi, Jun ichi ^a,b   Osaka, Hitoshi ^c   Saitsu, Hirotomo ^d   Sasaki, Masayuki ^e   Mori, Harushi ^f   Shibayama, Hidehiro ^a   Tanaka, Manabu ^g   Nomura, Yoshiko ^h   Terao, Yasuo ^f   Inoue, Ken ^e   Matsumoto, Naomichi ^d   James Barkovich, A ⁱ  

^a KAMEDA MEDICAL CENTER   (Japan)

^b TOHO UNIVERSITY SAKURA MEDICAL CENTER   (Japan)

^c KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

^d YOKOHAMA CITY UNIVERSITY   (Japan)

^e NATIONAL INSTITUTE OF MENTAL HEALTH   (Japan)

^f UNIVERSITY OF TOKYO   (Japan)

^g SAITAMA CHILDREN'S MEDICAL CENTER   (Japan)

^h Segawa Neurol Clinic for Children   (Japan)

ⁱ UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Cerebellum; Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum (HCAHC); Hypomyelination; Hypomyelination with hypogonadotropic hypogonadism and hypodontia (4H syndrome); MRI; POLR3A; POLR3B; RNA polymerase III (Pol III)

Indexed keywords

CEREBELLUM; DIFFUSE CEREBRAL HYPOMYELINATION WITH CEREBELLAR ATROPHY AND HYPOPLASIA OF THE CORPUS CALLOSUM (HCAHC); HYPOMYELINATION; HYPOMYELINATION WITH HYPOGONADOTROPIC HYPOGONADISM AND HYPODONTIA (4H SYNDROME); MRI; POLR3A; POLR3B; RNA POLYMERASE III (POL III);

ADOLESCENT; ADULT; CEREBELLAR DISEASES; CEREBELLUM; FEMALE; GENOTYPE; HEREDITARY CENTRAL NERVOUS SYSTEM DEMYELINATING DISEASES; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; NERVE FIBERS, MYELINATED; ORGAN SIZE; PHENOTYPE; RNA POLYMERASE III;

EID: 84893875255     PISSN: 03877604     EISSN: 18727131     Source Type: Journal    
DOI: 10.1016/j.braindev.2013.03.006     Document Type: Article

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