[HTML][HTML] Diagnosis of charcot-marie-tooth disease
…, J Montero, JA Martínez-Matos, V Volpini - BioMed Research …, 2009 - hindawi.com
Charcot-Marie-Tooth (CMT) disease or hereditary motor and sensory neuropathy (HMSN) is
a genetically heterogeneous group of conditions that affect the peripheral nervous system …
a genetically heterogeneous group of conditions that affect the peripheral nervous system …
Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative …
…, H Goldberg-Stern, X Estivill, V Volpini… - European Journal of …, 1996 - nature.com
A European collaboration on Charcot-Marie-Tooth type 1 (CMT1) disease and hereditary
neuropathy with liability to pressure palsies (HNPP) was established to estimate the …
neuropathy with liability to pressure palsies (HNPP) was established to estimate the …
Rare neurodegenerative diseases: clinical and genetic update
…, S Morais, J Sequeiros, I Alonso, V Volpini… - … : Update and Overview, 2017 - Springer
More than 600 human disorders afflict the nervous system. Of these, neurodegenerative
diseases are usually characterised by onset in late adulthood, progressive clinical course …
diseases are usually characterised by onset in late adulthood, progressive clinical course …
[PDF][PDF] Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study
…, M Lauritzen, L Tranebjaerg, V Volpini… - The American Journal of …, 2001 - cell.com
Machado-Joseph disease (MJD) is an autosomal dominant neurodegenerative disorder
originally described in families of Portuguese-Azorean ancestry. The cloning of the MJD1 …
originally described in families of Portuguese-Azorean ancestry. The cloning of the MJD1 …
Linkage, clinical features, and prognosis of autosomal dominant polycystic kidney disease types 1 and 2.
…, A Darnell, C Nicolau, V Volpini… - Journal of the …, 1996 - journals.lww.com
Linkage analysis was performed on 49 Catalan families with autosomal dominant polycystic
kidney disease obtained via the Nephrology Department and related nephrology centers. A …
kidney disease obtained via the Nephrology Department and related nephrology centers. A …
The spinocerebellar ataxias: clinical aspects and molecular genetics
A Matilla-Dueñas, M Corral-Juan, V Volpini… - Neurodegenerative …, 2012 - Springer
Spinocerebellar ataxias (SCAs) are a highly heterogeneous group of inherited neurological
disorders, based on clinical characterization alone with variable degrees of cerebellar ataxia …
disorders, based on clinical characterization alone with variable degrees of cerebellar ataxia …
Clinical, neuropathologic, and genetic studies of a large spinocerebellar ataxia type 1 (SCA1) kindred: (CAG)n expansion and early premonitory signs and symptoms
D Genís, T Matilla, V Volpini, J Rosell, A Dávalos… - Neurology, 1995 - AAN Enterprises
Article abstract-We report the clinical, neuropathologic, and genetic studies of a large
kindred (family M-ADCA1) with autosomal dominant spinocerebellar ataxia type 1 (SCA1) …
kindred (family M-ADCA1) with autosomal dominant spinocerebellar ataxia type 1 (SCA1) …
Spinocerebellar ataxias in Spanish patients: genetic analysis of familial and sporadic cases
…, J Berciano, D Genís, I Banchs, X Estivill, V Volpini… - Human genetics, 1999 - Springer
Autosomal dominant cerebellar ataxias (ADCA) are a clinically heterogeneous group of
neurodegenerative disorders caused by unstable CAG repeat expansions encoding …
neurodegenerative disorders caused by unstable CAG repeat expansions encoding …
Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment
…, O Bravo, I Banchs, V Volpini… - Human molecular …, 2001 - academic.oup.com
Mutations in the connexin 31 (GJB3) gene have been found in subjects with dominant and
recessive deafness and in patients with erythrokeratodermia variabilis. We report here a …
recessive deafness and in patients with erythrokeratodermia variabilis. We report here a …
[HTML][HTML] Neurofibromatosis type 1 due to germ-line mosaicism in a clinically normal father
C Lazaro, A Ravella, A Gaona, V Volpini… - New England Journal …, 1994 - Mass Medical Soc
Background The mutation rate of the neurofibromatosis type 1 (NF1) gene is one of the
highest in the human genome, with about 50 percent of cases being due to new mutations …
highest in the human genome, with about 50 percent of cases being due to new mutations …