Search Results - "Banchs, I"

Phenotypic spectrum of MFN2 mutations in the Spanish population by Casasnovas, C, Banchs, I, Cassereau, J, Gueguen, N, Chevrollier, A, Martínez-Matos, J A, Bonneau, D, Volpini, V

“…The most common form of axonal Charcot-Marie-Tooth (CMT) disease is type 2A, caused by mutations in the mitochondrial GTPase mitofusin 2 (MFN2). The objective…”
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SIMULTANEOUS MFN2 AND GDAP1 MUTATIONS CAUSE MAJOR MITOCHONDRIAL DEFECTS IN A PATIENT WITH CMT by CASSEREAU, J, CASASNOVAS, C, PROCACCIO, V, CHEVROLLIER, A, GUEGUEN, N, MALINGE, M.-C, GUILLET, V, REYNIER, P, BONNEAU, D, AMATI-BONNEAU, P, BANCHS, I, VOLPINI, V

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Two Spanish families with Charcot–Marie–Tooth type 2A: Clinical, electrophysiological and molecular findings by Banchs, I, Casasnovas, C, Montero, J, Martínez-Matos, J.A, Volpini, V

“…Abstract Mutations in the Mitofusin 2 (MFN2) gene have been related to the axonal type of Charcot–Marie–Tooth type 2 (CMT 2A). We report the first two Spanish…”
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Clinical and molecular analysis of X-linked Charcot-Marie-Tooth disease type 1 in Spanish population by Casasnovas, C, Banchs, I, Corral, J, Martínez-Matos, JA, Volpini, V

“…From 1995 to 2004, 979 families with hereditary peripheral neuropathy were referred to the Genetic Diagnosis Center. Using single‐strand conformation analysis…”
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New alleles at microsatellite loci in CEPH families mainly arise from somatic mutations in the lymphoblastoid cell lines by Banchs, I, Bosch, A, Guimerà, J, Lázaro, C, Puig, A, Estivill, X

“…In the analysis of 40 CEPH families, under the EUROGEM project, with a total of 29 microsatellites (26 CA-repeats, a TCTA-repeat within the vWFII-3 gene, a…”
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Post-transplant lymphoma in a liver allograft by Ribas, Y, Rafecas, A, Figueras, J, Benasco, C, Fabregat, J, Torras, J, Cañas, C, Valls, C, Volpini, V, Banchs, I

“…We describe the development of a lymphoma in a liver allograft shortly after orthotopic liver transplantation. Aspiration and core biopsies of the nodule were…”
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The EUROGEM map of human chromosome 12 by Bosch, A, Banchs, I, Puig, A, Vergnaud, G, Allamand, V, Estivill, X

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Diagnosis of Charcot-Marie-Tooth Disease by Banchs, Isabel, Casasnovas, Carlos, Albertí, Antonia, De Jorge, Laura, Povedano, Mònica, Montero, Jordi, Martínez-Matos, Juan Antonio, Volpini, Victor

“…Charcot-Marie-Tooth (CMT) disease or hereditary motor and sensory neuropathy (HMSN) is a genetically heterogeneous group of conditions that affect the…”
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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) by Castellví-Bel, S, Matilla, T, Banchs, M I, Kruyer, H, Corral, J, Milà, M, Estivill, X

“…We have used a non-isotopic PCR assay based on the chemiluminescent detection of blotted PCR products (CB-PCR) for two dynamic mutation diseases (Huntington's…”
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Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment by 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

“…Mutations in the connexin 31 (GJB3) gene have been found in subjects with dominant and recessive deafness and in patients with erythrokeratodermia variabilis…”
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Spinocerebellar ataxias in Spanish patients : genetic analysis of familial and sporadic cases by PUJANA, M. A, CORRAL, J, GRATACOS, M, COMBARROS, O, BERCIANO, J, GENIS, D, BANCHS, I, ESTIVILL, X, VOLPINI, V

“…Autosomal dominant cerebellar ataxias (ADCA) are a clinically heterogeneous group of neurodegenerative disorders caused by unstable CAG repeat expansions…”
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Short Report: Clinical and molecular analysis of X-linked Charcot-Marie-Tooth disease type 1 in Spanish population by Casasnovas, C, Banchs, I, Corral, J, Martínez-Matos, JA, Volpini, V

“…From 1995 to 2004, 979 families with hereditary peripheral neuropathy were referred to the Genetic Diagnosis Center. Using single-strand conformation analysis…”
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Identification of seven novel SNPS (five nucleotide and two amino acid substitutions) in the connexin31 (GJB3) gene by López-Bigas, Núria, Rabionet, Raquel, Martínez, Elisabeth, Banchs, Isabel, Volpini, Víctor, Vance, Jeffery M., Arbonés, Maria Lourdes, Estivill, Xavier

“…Connexin31 (GJB3) has been associated with hearing impairment and erythrokeratodermia variabilis. We have analyzed this gene in samples from patients with…”
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Spinocerebellar ataxias in Spanish patients: genetic analysis of familial and sporadic cases. The Ataxia Study Group by Pujana, M A, Corral, J, Gratacòs, M, Combarros, O, Berciano, J, Genís, D, Banchs, I, Estivill, X, Volpini, V

“…Autosomal dominant cerebellar ataxias (ADCA) are a clinically heterogeneous group of neurodegenerative disorders caused by unstable CAG repeat expansions…”
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Uncloned expanded CAG/CTG repeat sequences in autosomal dominant cerebellar ataxia (ADCA) detected by the repeat expansion detection (RED) method by Pujana, M A, Volpini, V, Gratacós, M, Corral, J, Banchs, I, Sánchez, A, Genís, D, Cervera, C, Estivill, X

“…In some neurodegenerative diseases, genetic anticipation correlates with expansions of the CAG/CTG repeat sequence above the normal range through the…”
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Polymorphisms at 13 expressed human sequences containing CAG/CTG repeats and analysis in autosomal dominant cerebellar ataxia (ADCA) patients by PUJANA, M. A, GRATACOS, M, CORRAL, J, BANCHS, I, SANCHEZ, A, GENIS, D, CERVERA, C, VOLPINI, V, ESTIVILL, X

“…Genetic anticipation--increasing severity and a decrease in the age of onset with successive generations of a pedigree--is clearly present in autosomal…”
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Genetic variation of microsatellite markers D1S117, D6S89, D11S35, APOC2, and D21S168 in the Spanish population by Fuentes, J J, Banchs, I, Volpini, V, Estivill, X

“…We have used PCR amplification to analyse the allele frequency, distribution and heterozygosity of 5 microsatellite markers (D1S117, D6S89, D11S35, APOC2, and…”
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On the Trade-Off between Throughput Maximization and Energy Consumption Minimization in IEEE 802.11 WLANs by Serrano, Pablo, Hollick, Matthias, Banchs, Albert

“…Understanding and optimizing the energy consumption of wireless devices is critical to maximize the network lifetime and to provide guidelines for the design…”
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