Phenotypic characterization of hypomyelination and congenital cataract

Annals of Neurology

Volumn 62, Issue 2, 2007, Pages 121-127

  Biancheri, Roberta ^a   Zara, Federico ^a   Bruno, Claudio ^a   Rossi, Andrea ^b   Bordo, Laura ^a   Gazzerro, Elisabetta ^a   Sotgia, Federica ^a,c   Pedemonte, Marina ^a   Scapolan, Sara ^a   Bado, Massimo ^a   Uziel, Graziella ^d   Bugiani, Marianna ^d   Lamba, Laura Doria ^b   Costa, Valeria ^e   Schenone, Angelo ^a   Rozemuller, Annemieke J M ^f   Tortori Donati, Paolo ^b   Lisanti, Michael P ^a,c   Van Der Knaap, Marjo S ^f   Minetti, Carlo ^a  

^a UNIVERSITY OF GENOA   (Italy)

^b G GASLINI INSTITUTE   (Italy)

^c THOMAS JEFFERSON UNIVERSITY   (United States)

^d DEPARTMENT OF NEUROSURGERY   (Italy)

^e Azienda Unita Sanit Locale 6   (Italy)

^f VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

HYCCIN; MEMBRANE PROTEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CEREBELLAR ATAXIA; CHROMOSOME 7P; CLINICAL ARTICLE; CLINICAL EXAMINATION; CLINICAL FEATURE; CONGENITAL CATARACT; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; DISEASE ASSOCIATION; EVOKED RESPONSE; FEMALE; FRONTAL CORTEX; GENE LOCUS; GENETIC CODE; HUMAN; HUMAN TISSUE; HYPOMYELINATION; LABORATORY DIAGNOSIS; MALE; MENTAL DEFICIENCY; MOTOR NERVE CONDUCTION; MYELIN DEFICIENCY; MYELIN SHEATH; MYELINATION; NERVE BIOPSY; NERVE CONDUCTION; NEUROIMAGING; NEUROLOGIC EXAMINATION; NEUROPATHOLOGY; NEUROPHYSIOLOGY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SPASTICITY; SURAL NERVE; WHITE MATTER;

BIOPSY; CATARACT; CEREBELLAR ATAXIA; DEMYELINATING DISEASES; FEMALE; GENES, RECESSIVE; HEREDITARY CENTRAL NERVOUS SYSTEM DEMYELINATING DISEASES; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MAGNETIC RESONANCE IMAGING; MALE; MEMBRANE PROTEINS; MENTAL RETARDATION; MUSCLE SPASTICITY; NERVOUS SYSTEM; NEURAL CONDUCTION; PERIPHERAL NERVOUS SYSTEM DISEASES; PHENOTYPE; RETROSPECTIVE STUDIES; SINGLE-BLIND METHOD; SURAL NERVE;

EID: 35148883885     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.21175     Document Type: Article

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