Phenotypic spectrum of MFN2 mutations in the Spanish population
Casasnovas, C, Banchs, I, Cassereau, J, Gueguen, N, Chevrollier, A, Martínez-Matos, J A, Bonneau, D, Volpini, V
Published in Journal of medical genetics (01.04.2010)
Published in Journal of medical genetics (01.04.2010)
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Simultaneous MFN2 and GDAP1 mutations cause major mitochondrial defects in a patient with CMT
Cassereau, J, Casasnovas, C, Gueguen, N, Malinge, M-C, Guillet, V, Reynier, P, Bonneau, D, Amati-Bonneau, P, Banchs, I, Volpini, V, Procaccio, V, Chevrollier, A
Published in Neurology (26.04.2011)
Published in Neurology (26.04.2011)
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Clinical and molecular analysis of X-linked Charcot-Marie-Tooth disease type 1 in Spanish population
Casasnovas, C, Banchs, I, Corral, J, Martínez-Matos, JA, Volpini, V
Published in Clinical genetics (01.12.2006)
Published in Clinical genetics (01.12.2006)
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Journal Article
Post-transplant lymphoma in a liver allograft
Ribas, Y, Rafecas, A, Figueras, J, Benasco, C, Fabregat, J, Torras, J, Cañas, C, Valls, C, Volpini, V, Banchs, I
Published in Transplant international (01.11.1995)
Published in Transplant international (01.11.1995)
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The EUROGEM map of human chromosome 12
Bosch, A, Banchs, I, Puig, A, Vergnaud, G, Allamand, V, Estivill, X
Published in European journal of human genetics : EJHG (1994)
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Published in European journal of human genetics : EJHG (1994)
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Diagnosis of Charcot-Marie-Tooth Disease
Banchs, Isabel, Casasnovas, Carlos, Albertí, Antonia, De Jorge, Laura, Povedano, Mònica, Montero, Jordi, Martínez-Matos, Juan Antonio, Volpini, Victor
Published in BioMed research international (01.01.2009)
Published in BioMed research international (01.01.2009)
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Chemiluminescent detection of blotted PCR products (CB-PCR) of two CAG dynamic mutations (Huntington's disease and spinocerebellar ataxia type 1)
Castellví-Bel, S, Matilla, T, Banchs, M I, Kruyer, H, Corral, J, Milà, M, Estivill, X
Published in Journal of medical genetics (01.08.1994)
Published in Journal of medical genetics (01.08.1994)
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Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment
LOPEZ-BIGAS, Nuria, OLIVE, Montserrat, FERRER, Isidre, ARBONES, Maria Lourdes, ESTIVILL, Xavier, RABIONET, Raquel, BEN-DAVID, Orit, MARTINEZ-MATOS, Juan Antonio, BRAVO, Olga, BANCHS, Isabel, VOLPINI, Victor, GASPARINI, Paolo, AVRAHAM, Karen B
Published in Human molecular genetics (15.04.2001)
Published in Human molecular genetics (15.04.2001)
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Spinocerebellar ataxias in Spanish patients : genetic analysis of familial and sporadic cases
PUJANA, M. A, CORRAL, J, GRATACOS, M, COMBARROS, O, BERCIANO, J, GENIS, D, BANCHS, I, ESTIVILL, X, VOLPINI, V
Published in Human genetics (16.07.1999)
Published in Human genetics (16.07.1999)
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Short Report: Clinical and molecular analysis of X-linked Charcot-Marie-Tooth disease type 1 in Spanish population
Casasnovas, C, Banchs, I, Corral, J, Martínez-Matos, JA, Volpini, V
Published in Clinical genetics (01.12.2006)
Published in Clinical genetics (01.12.2006)
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Journal Article
Identification of seven novel SNPS (five nucleotide and two amino acid substitutions) in the connexin31 (GJB3) gene
López-Bigas, Núria, Rabionet, Raquel, Martínez, Elisabeth, Banchs, Isabel, Volpini, Víctor, Vance, Jeffery M., Arbonés, Maria Lourdes, Estivill, Xavier
Published in Human mutation (01.05.2000)
Published in Human mutation (01.05.2000)
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Spinocerebellar ataxias in Spanish patients: genetic analysis of familial and sporadic cases. The Ataxia Study Group
Pujana, M A, Corral, J, Gratacòs, M, Combarros, O, Berciano, J, Genís, D, Banchs, I, Estivill, X, Volpini, V
Published in Human genetics (01.06.1999)
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Published in Human genetics (01.06.1999)
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Uncloned expanded CAG/CTG repeat sequences in autosomal dominant cerebellar ataxia (ADCA) detected by the repeat expansion detection (RED) method
Pujana, M A, Volpini, V, Gratacós, M, Corral, J, Banchs, I, Sánchez, A, Genís, D, Cervera, C, Estivill, X
Published in Journal of medical genetics (01.02.1998)
Published in Journal of medical genetics (01.02.1998)
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Polymorphisms at 13 expressed human sequences containing CAG/CTG repeats and analysis in autosomal dominant cerebellar ataxia (ADCA) patients
PUJANA, M. A, GRATACOS, M, CORRAL, J, BANCHS, I, SANCHEZ, A, GENIS, D, CERVERA, C, VOLPINI, V, ESTIVILL, X
Published in Human genetics (01.11.1997)
Published in Human genetics (01.11.1997)
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아마로우시아잔틴 A 에스테르 및 그의 용도
GARCIA DELGADO BANCHS NOEMI, MERCADE ROCA JAUME, RUIZ CANOVAS EUGENIA
Year of Publication 18.12.2023
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Year of Publication 18.12.2023
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