Clinical and genetic study of a large Charcot-Marie-Tooth type 2A family from southern Italy. (Articolo in rivista)

Type

• Articolo in rivista (Classe)
• Prodotto della ricerca (Classe)

Label

• Clinical and genetic study of a large Charcot-Marie-Tooth type 2A family from southern Italy. (Articolo in rivista) (literal)

Anno

• 2001-01-01T00:00:00+01:00 (literal)

Alternative label

• Muglia M,1; Zappia M,2; Timmerman V,5; Valentino P,2; Gabriele AL,1; Conforti FL,1; De Jonghe P,5; Ragno M,3; Mazzei R,1; Sabatelli M,4; Nicoletti G,1; Patitucci AM,1; Oliveri RL,1-2; Bono F,2; Gambardella A,1-2; Quattrone A.1-2 (2001)
  Clinical and genetic study of a large Charcot-Marie-Tooth type 2A family from southern Italy.
  in Neurology
  (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori

• Muglia M,1; Zappia M,2; Timmerman V,5; Valentino P,2; Gabriele AL,1; Conforti FL,1; De Jonghe P,5; Ragno M,3; Mazzei R,1; Sabatelli M,4; Nicoletti G,1; Patitucci AM,1; Oliveri RL,1-2; Bono F,2; Gambardella A,1-2; Quattrone A.1-2 (literal)

Pagina inizio

• 100 (literal)

Pagina fine

• 103 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume

• 56 (literal)

Rivista

• Neurology (Rivista)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#descrizioneSinteticaDelProdotto

• We describe a multi-generation Italian kindred with CMT2, and describe the clinical, electrophysiological, and neuropathological findings, and the natural clinical history of the disease. We also report linkage to the CMT2A locus on chromosome 1p35-p36. Based on informative recombination in affected individuals, we mapped the CMT2A gene between D1S160 and D1S170. (literal)

Note

• ISI Web of Science (WOS) (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni

• 1,Institute of Experimental Medicine and Biotechnology, National Research Council, Piano Lago di Mangone - Cosenza (ora ISN) 2,Institute of Neurology, School of Medicine Catanzaro 3,Institute of Neurology, Hospital G. e C. Mazzoni, Ascoli Piceno; 4,Institute of Neurology, Catholic University, Rome, Italy 5,Flanders Interuniversity Institute for Biotechnology (VIB), Born-Bunge Foundation (BBS), University of Antwerpen (UIA), Antwerpen, Belgium. (literal)

Titolo

• Clinical and genetic study of a large Charcot-Marie-Tooth type 2A family from southern Italy. (literal)

Abstract

• The authors report a large pedigree from southern Italy with Charcot-Marie-Tooth disease type 2A (CMT2A). The clinical picture was uniform and characterized by distal muscular weakness and atrophy in the lower limbs, reduced or absent tendon reflexes mainly in the lower limbs, and mild sensory impairment in the feet. Significant linkage to the CMT2A locus on chromosome 1p35-p36 was detected. Based on informative recombination in affected individuals, the authors mapped the CMT2A gene between D1S160 and D1S170. (literal)

Prodotto di

• Institute of neurological sciences (ISN) (Istituto)

Autore CNR

• ROSALUCIA MAZZEI (Unità di personale interno)
• DEMETRIO MESSINA (Unità di personale interno)
• MARIA MUGLIA (Unità di personale interno)
• ALESSANDRA PATITUCCI (Persona)
• FRANCESCA LUISA CONFORTI (Unità di personale interno)
• ANNA LIA GABRIELE (Persona)
• GIUSEPPE NICOLETTI (Persona)

Insieme di parole chiave

• Keywords of "Clinical and genetic study of a large Charcot-Marie-Tooth type 2A family from southern Italy." (Insieme di parole chiave)

Incoming links:

Autore CNR di

• GIUSEPPE NICOLETTI (Persona)
• MARIA MUGLIA (Unità di personale interno)
• FRANCESCA LUISA CONFORTI (Unità di personale interno)
• ROSALUCIA MAZZEI (Unità di personale interno)
• ALESSANDRA PATITUCCI (Persona)
• DEMETRIO MESSINA (Unità di personale interno)
• ANNA LIA GABRIELE (Persona)

Prodotto

• Institute of neurological sciences (ISN) (Istituto)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#rivistaDi

• Neurology (Rivista)

Insieme di parole chiave di

• Keywords of "Clinical and genetic study of a large Charcot-Marie-Tooth type 2A family from southern Italy." (Insieme di parole chiave)