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Titolo:
MOLECULAR-BIOLOGY AND GENETICS OF HEREDIT ARY MOTOR AND SENSORY NEUROPATHIES
Autore:
STOGBAUER F; HALFTER H; YOUNG P; RINGELSTEIN EB;
Indirizzi:
UNIV MUNSTER,NEUROL KLIN & POLIKLIN,ALBERT SCHWEITZER STR 33 D-48129 MUNSTER GERMANY
Titolo Testata:
Nervenarzt
fascicolo: 12, volume: 67, anno: 1996,
pagine: 987 - 997
SICI:
0028-2804(1996)67:12<987:MAGOHA>2.0.ZU;2-5
Fonte:
ISI
Lingua:
GER
Soggetto:
MARIE-TOOTH-DISEASE; PERIPHERAL MYELIN PROTEIN; PERONEAL MUSCULAR-ATROPHY; DEJERINE-SOTTAS DISEASE; PRESSURE PALSIES HNPP; ARREST-SPECIFIC GENE; TREMBLER-J MOUSE; HMSN TYPE-III; PMP22 GENE; POINT MUTATIONS;
Keywords:
HEREDITARY MOTOR AND SENSORY NEUROPATHIES; HMSN; HNPP; PERIPHERAL MYELIN PROTEIN 22; MYELIN PROTEIN ZERO; CONNEXIN 32;
Tipo documento:
Review
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
119
Recensione:
Indirizzi per estratti:
Citazione:
F. Stogbauer et al., "MOLECULAR-BIOLOGY AND GENETICS OF HEREDIT ARY MOTOR AND SENSORY NEUROPATHIES", Nervenarzt, 67(12), 1996, pp. 987-997

Abstract

Hereditary neuropathies (HMSN) are among the most common genetic diseases in neurology. Various mutations in different genes are known which lead to the most frequent hereditary neuropathies. These mutations concern proteins of the myelin of the peripheral nervous system, as well as a gap-junction protein expressed in peripheral nerves. The molecular mechanisms leading from gene mutation to disease phenotypes are not fully understood. Nowadays, we are able to use DNA analysis for symptomatic, presymptomatic, and prenatal screening. The latter is of questionable value because of the variability in disease severity and outcome. Deeper insights into the molecular pathophysiology will, however,yield new therapeutic strategies in individual patients.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 21/01/21 alle ore 07:09:34