Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease

Author

TANIGUCHI, Kiyomi¹ ; KOBAYASHI, Kazuhiro¹ ; FALSAPERLA, Raffaele⁹ ; PAVONE, Piero⁹ ; VAN COSTER, Rudy¹⁰ ; TALIM, Beril¹¹ ; STEINBRECHER, Alice¹² ; STRAUB, Volker¹² ; NISHINO, Ichizo⁵ ; TOPALOGLU, Haluk¹³ ; VOIT, Thomas¹² ; ENDO, Tamao⁶ ; SAITO, Kayoko² ; TODA, Tatsushi¹ ; YAMANOUCHI, Hideo³ ; OHNUMA, Akira⁴ ; HAYASHI, Yukiko K⁵ ; MANYA, Hiroshi⁶ ; DONG KYU JIN⁷ ; MUNHYANG LEE⁷ ; PARANO, Enrico⁸
[1] Division of Functional Genomics, Department of Post-Genomics and Diseases, Osaka University Graduate School of Medicine, 2-2-B9 Yamadaoka, Suita, Osaka 565-0871, Japan
[2] Department of Pediatrics, Tokyo Women's Medical University, School of Medicine, Tokyo, Japan
[3] Department of Pediatrics, Dokkyo University School of Medicine, Tochigi, Japan
[4] Division of Pediatric Neurology, Miyagi Prefectural Takuto Rehabilitation Centre for Children, Sendai, Japan
[5] Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan
[6] Glycobiology Research Group, Tokyo Metropolitan Institute of Gerontology, Tokyo, Japan
[7] Department of Pediatrics, Sungkyunkwan University, Samsung Medical Center, Seoul, Korea, Republic of
[8] Institute of Neurological Science, The National Research Council of Italy, Catania, Italy
[9] Pediatric Clinic, University of Catania, Catania, Italy
[10] Division of Neurometabolic Disorders, Ghent University Hospital, Ghent, Belgium
[11] Department of Pediatric Pathology, Hacettepe Children's Hospital, Ankara, Turkey
[12] Department of Pediatrics and Pediatric Neurology, University of Essen, Essen, Germany
[13] Department of Pediatric Neurology, Hacettepe Children's Hospital, Ankara, Turkey

Source

Human molecular genetics (Print). 2003, Vol 12, Num 5, pp 527-534, 8 p ; ref : 26 ref

ISSN

0964-6906

Scientific domain

Genetics

Publisher

Oxford University Press, Oxford

Publication country

United Kingdom

Document type

Article

Language

English

Keyword (fr)

Caucasoïde Distribution Défaut complexe Homme Mutation Syndrome Gène POMGnT1 Asie

Keyword (en)

Caucasoid Distribution Complex defect Human Mutation Syndrome Asia

Keyword (es)

Caucásico Distribución Defecto complejo Hombre Mutación Síndrome Asia

Classification

Pascal

002 Biological and medical sciences / 002B Medical sciences / 002B17 Neurology / 002B17G Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases

Discipline

Neurology

Origin

Inist-CNRS

Database

PASCAL

INIST identifier

14549632

Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS