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Titolo:
Progress in clinical neurosciences: Charcot-Marie-Tooth disease and related inherited peripheral neuropathies
Autore:
Benstead, TJ; Grant, IA;
Indirizzi:
QEII Hlth Sci Ctr, Div Neurol, Halifax, NS B3H 3A7, Canada QEII Hlth Sci Ctr Halifax NS Canada B3H 3A7 , Halifax, NS B3H 3A7, Canada Dalhousie Univ, Sch Med, Halifax, NS, Canada Dalhousie Univ Halifax NS Canada usie Univ, Sch Med, Halifax, NS, Canada
Titolo Testata:
CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES
fascicolo: 3, volume: 28, anno: 2001,
pagine: 199 - 214
SICI:
0317-1671(200108)28:3<199:PICNCD>2.0.ZU;2-5
Fonte:
ISI
Lingua:
ENG
Soggetto:
FOLDED MYELIN SHEATHS; PROTEIN ZERO GENE; UNUSUAL ELECTROPHYSIOLOGICAL FINDINGS; HEREDITARY NEURALGIC AMYOTROPHY; NERVE-CONDUCTION VELOCITIES; AUTOSOMAL RECESSIVE MOTOR; PMP22 POINT MUTATIONS; FRAME-SHIFT MUTATION; DE-NOVO MUTATION; HMSN TYPE-III;
Tipo documento:
Review
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
159
Recensione:
Indirizzi per estratti:
Indirizzo: Benstead, TJ QEII Hlth Sci Ctr, Div Neurol, 1796 Summer St, Halifax, NS B3H 3A7, Canada QEII Hlth Sci Ctr 1796 Summer St Halifax NS Canada B3H 3A7 da
Citazione:
T.J. Benstead e I.A. Grant, "Progress in clinical neurosciences: Charcot-Marie-Tooth disease and related inherited peripheral neuropathies", CAN J NEUR, 28(3), 2001, pp. 199-214

Abstract

The classification of Charcot-Marie-Tooth disease and related hereditary motor and sensory neuropathies has evolved to incorporate clinical, electrophysiological and burgeoning molecular genetic information that characterizethe many disorders. For several inherited neuropathies, the gene product abnormality is known and for others, candidate genes have been identified. Genetic testing can pinpoint a specific inherited neuropathy for many patients. However, clinical and electrophysiological assessments continue to be essential tools for diagnosis and management of this disease group. This article reviews clinical, electrophysiological, pathological and molecular aspects of hereditary motor and sensory neuropathies.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 23/01/20 alle ore 03:24:16