GROUP 9

 

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Principal Investigator Name: VICTOR VOLPINI BERTRAN Education: BSc MD PhD Department: Centre for Genetic-Molecular diagnosis of inherited diseases (CDGM). Institution: IDIBELL Address: Hospital Duran i Reynals, Gran Via s/n, L’Hospitalet, Spain. Telephone: +34 932 607 472 Fax: +34 932 607 414 E-mail: vvolpini@idibell.cat  members Ataxias, Parkinson and Dementias Name: LAURA DE JORGE, BSc Name: JORDI CORRAL, Tech. Name: HECTOR SAN NICOLAS, BSc Name: PERE FABREGAS TARRIDA, Tech Charcot-Marie-Tooth Name: ISABEL BANCHS ESCRIBA, BSc Name: CARLOS CASASNOVAS PONS, MD Name: MARIA DOLORS RAMOS LOZANO, BSc Name: JAVIER GIMENEZ, Tech. Neurofibromatosis types 1, 2 and related disorders Name: BERTA CAMPOS ESTELA, BSc PhD Name: JOSEP GARDENYES BERNAUS, BSc Name: OSCAR ABAD ZARDOYA, BSc  LINKS AEGH IDIBELLmailto:vvolpini@idibell.cat?subject=mailto:ldejorge@idibell.org?subject=email%20subjectmailto:jcorral@idibell.org?subject=email%20subjectmailto:hsanni@idibell.org?subject=email%20subjectmailto:pfabregas@idibell.org?subject=email%20subjectmailto:ibanchs@idibell.org?subject=email%20subjectmailto:carloscasasnovas@idibell.org?subject=email%20subjectmailto:lramos@idibell.org?subject=email%20subjectmailto:jgimenez@idibell.org?subject=email%20subjectmailto:bcampos@idibell.org?subject=email%20subjecthttp://jgardenyes@idibell.orgmailto:oabad@idibell.org?subject=email%20subjecthttp://www.aegh.org/http://www.iro.es/en_index.htmlmailto:vvolpini@idibell.cat?subject=email%20subjectshapeimage_1_link_0shapeimage_1_link_1shapeimage_1_link_2shapeimage_1_link_3shapeimage_1_link_4shapeimage_1_link_5shapeimage_1_link_6shapeimage_1_link_7shapeimage_1_link_8shapeimage_1_link_9shapeimage_1_link_10shapeimage_1_link_11shapeimage_1_link_12shapeimage_1_link_13

LINES OF RESEARCH


  1. 1. Molecular Genetics of ataxias.

  2. 2. Molecular genetics of hereditary sensitive and motor neuropathies (Charcot-Marie-Tooth).

  3. 3. Molecular genetics of neurodegenerative diseases (Parkinson, Alzheimer).

  4. 4. Molecular genetic of neurofibromatosis and related disorders.

 

EXPERTISE


  1. 1. Clinical molecular genetics.

  2. 2. Genetic diagnosis, genetic risk & genetic counseling.

  3. 3. Analysis of human genetic linkage.

  4. 4. Population genetics.

 

SELECTED PUBLICATIONS


  1. 1. J. Cassereau, C. Casasnovas, N. Gueguen, M-C. Malinge, V. Guillet, P. Reynier, D. Bonneau, P. Amati-Bonneau, I. Banchs, V. Volpini, V. Procaccio, A. Chevrollier. Simultaneous MFN2 and GDAP1 mutations cause major mitochondrial defects in a CMT patient. Neurology, in press (2011).

  2. 2.C. Casasnovas, I. Banchs, J. Cassereau, N. Gueguen, A. Chevrollier, J.A. Martinez-Matos, D. Bonneau, V. Volpini. Phenotypic spectrum of MFN2 mutations in the Spanish population. J Med Genet 47, 249-256 (2010).

  3. 3.D Genís, I Farré, J Valls Solé, J Corral, V Volpini, H San Nicolás, Jordi Gich, Lluis Ramió-Torrenta, María Ferrándiz, Josep Puig, Fabián Márquez. A Kindred with cerebellar ataxia and thermoanalgesia. Journal of Neurology, Neurosurgery and Psychiatry 80, 518-523 (2009).

  4. 4.I Banchs, C Casasnovas, J Montero, J A Martínez Matos, V Volpini. Two Spanish families with Charcot-Marie-Tooth type 2 A: Clinical, electrophysiological and molecular findings. Neuromuscular Disorders 2008: 18(12), 974-8.

  5. 5. E Cuenca-León, R Corominas, N Fernández-Castillo, V Volpini, M del Toro, M Roig, A Macaya, B Cormand. Genetic analysis of 27 Spanish patients with hemiplegic migraine, basilar-type migraine and childhood periodic syndromes. Cephalalgia 28: 1039-1047.

  6. 6.Casasnovas C, Banchs I, Corral J, Martínez Matos JA, Volpini V. Clinical and molecular analysis of X-linked Charcot-Marie-Tooth disease type 1 in Spanish population. Clinical Genetics 2006: 70, 516-523.

  7. 7.Berciano J, Infante J, Garcia A, De pablos C, Amer G, Miguel Polo J, Volpini V, Combarros O. Stiff man-like syndrome and generalized myokymia in spinocerebellar ataxia type 3. Movement Disorders 2006:, 21(7), 1031-1035.

  8. 8.J Corral, D Genís, I Banchs, H San Nicolás, J Armstrong,V Volpini. Giant SCA8 Alleles in Nine Children Whose Mother Has Two Moderately Large Ones. Annals of Neurology 2005: 7, 549-553.

  9. 9. J Armstrong, I Bonaventura, A Rojo, G González, J. Corral, N Nadal, V Volpini, I Ferrer. Spinocerebellar ataxia type 2 (SCA2) with white matter involvement. Neuroscience Letters 2005: 381, 247-251.

  10. 10.Berciano J, Infante J, García A, Polo JM, Volpini V, Combarros O. Very late-onset Friedreich’s ataxia with minimal GAA1 expansion mimicking multiple system atrophy of cerebellar type. Movement Disorders 2005: 20(12), 1643-1645.

  11. 11.A M Andrés, M Soldevilla, O Lao, V Volpini, H T Jacobs, N Saitou, I Hayasaka, F Calafell, J Bertranpetit. Comparative genetics of functional trinucleotide tandem repeats in humans and apes. Journal of Molecular Evolution 2004: 59, 329-339.

  12. 12. J Infante, J Berciano, V Volpini, J Corral, J Miguel Polo, J Pascual, O Combarros. Spinocerebellar Ataxia Type 2 With Levodopa-Responsive Parkinsonism Culminating in Motor Neuron Disease. Movement Disorders 2004: 19(7), 848-852.