Search Results - "Pedrola, L"

GDAP1, the protein causing Charcot–Marie–Tooth disease type 4A, is expressed in neurons and is associated with mitochondria by Pedrola, Laia, Espert, Antonio, Wu, Xingyao, Claramunt, Reyes, Shy, Michael E., Palau, Francesc

“…Mutations in GDAP1, the ganglioside-induced differentiation-associated protein 1 gene, cause Charcot–Marie–Tooth (CMT) type 4A, a severe autosomal recessive…”
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Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect by Claramunt, R, Pedrola, L, Sevilla, T, López de Munain, A, Berciano, J, Cuesta, A, Sánchez-Navarro, B, Millán, J M, Saifi, G M, Lupski, J R, Vílchez, J J, Espinós, C, Palau, F

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Great clinical variability of Nance Horan syndrome due to deleterious NHS mutations in two unrelated Spanish families by Hernández, V, Pascual-Camps, I, Aparisi, M J, Martínez-Matilla, M, Martínez, F, Cerón, J A, Pedrola, L

“…: Nance-Horan syndrome (NHS) is an X-linked rare congenital disorder caused by mutations in the gene. Clinical manifestations include congenital cataracts,…”
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The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease by Mayordomo, Fernando, Chumillas, María José, Marín, Ignacio, Palau, Francesc, García-Planells, Javier, LeGuern, Eric, Sevilla, Teresa, Vílchez, Juan J, Cuesta, Ana, Pedrola, Laia

“…We identified three distinct mutations and six mutant alleles in GDAP1 in three families with axonal Charcot-Marie-Tooth (CMT) neuropathy and vocal cord…”
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Evolutionary and structural analyses of GDAP1, involved in Charcot-Marie-Tooth disease, characterize a novel class of glutathione transferase-related genes by Marco, Antonio, Cuesta, Ana, Pedrola, Laia, Palau, Francesc, Marín, Ignacio

“…Mutations in the Ganglioside-induced differentiation-associated protein-1 (GDAP1) gene cause autosomal recessive Charcot-Marie-Tooth disease type 4A. The…”
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A Single Next-Generation Sequencing (NGS) Assay for the Detection of Point Mutations and Large Chromosomal Abnormalities in MDS Patients by Liquori, A, Such, E, Palomo, L, Moreau, S, Pedrola, L, Sellés, J, Neef, A, Zúñiga, S, Ibáñez, M, Company, D, Saus, A, Acha, P, Sanjuan-Pla, A, Boluda, M, de Matteo, B, González, E, Sanz, M.A, Solé, F, Sanz, G, Cervera, J

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Mutations in GDAP1: Autosomal recessive CMT with demyelination and axonopathy by NELIS, E, ERDEM, S, VERELLEN, C, TAN, E, DEMIRCI, M, VAN BROECKHOVEN, C, DE JONGHE, P, TOPALOGLU, H, TIMMERMAN, V, VAN DEN BERGH, P. Y. K, BELPAIRE-DETHIOU, M.-C, CEUTERICK, C, VAN GERWEN, V, CUESTA, A, PEDROLA, L, PALAU, F, GABREËLS-FESTEN, A. A. W. M

“…Mutations in the ganglioside-induced differentiation-associated protein 1 gene (GDAP1) were recently shown to be responsible for autosomal recessive (AR)…”
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Letter to the Editor by Castel, V., Cañete, A., Calabria, I., Cervera, J., Dolz, S., Escobar, P., Font de Mora, J., Gargallo, P., Llavador, G., Pedrola, L., Yañez, Y., Zuñiga, A.

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De novo assembly and functional annotation of the olive (Olea europaea) transcriptome by Muñoz-Mérida, Antonio, González-Plaza, Juan José, Cañada, Andrés, Blanco, Ana María, García-López, Maria del Carmen, Rodríguez, José Manuel, Pedrola, Laia, Sicardo, M Dolores, Hernández, M Luisa, De la Rosa, Raúl, Belaj, Angjelina, Gil-Borja, Mayte, Luque, Francisco, Martínez-Rivas, José Manuel, Pisano, David G, Trelles, Oswaldo, Valpuesta, Victoriano, Beuzón, Carmen R

“…Olive breeding programmes are focused on selecting for traits as short juvenile period, plant architecture suited for mechanical harvest, or oil…”
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Letter to the Editor by Castel, V., Cañete, A., Calabria, I., Cervera, J., Dolz, S., Escobar, P., Font de Mora, J., Gargallo, P., Llavador, G., Pedrola, L., Yañez, Y., Zuñiga, A.

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30 - A Single Next-Generation Sequencing (NGS) Assay for the Detection of Point Mutations and Large Chromosomal Abnormalities in MDS Patients by Liquori, A., Such, E., Palomo, L., Moreau, S., Pedrola, L., Sellés, J., Neef, A., Zúñiga, S., Ibáñez, M., Company, D., Saus, A., Acha, P., Sanjuan-Pla, A., Boluda, M., de Matteo, B., González, E., Sanz, M.A., Solé, F., Sanz, G., Cervera, J.

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Letter to the Editor by Castel, V, Cañete, A, Calabria, I, Cervera, J, Dolz, S, Escobar, P, Font de Mora, J, Gargallo, P, Llavador, G, Pedrola, L, Yañez, Y, Zuñiga, A

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Cell expression of GDAP1 in the nervous system and pathogenesis of Charcot‐Marie‐Tooth type 4A disease by Pedrola, Laia, Espert, Antonio, Valdés‐Sánchez, Teresa, Sánchez‐Piris, Maribel, Sirkowski, Erich E., Scherer, Steven S., Fariñas, Isabel, Palau, Francesc

“…Mutations in the mitochondrial protein GDAP1 are the cause of Charcot‐Marie‐Tooth type 4A disease (CMT4A), a severe form of peripheral neuropathy associated…”
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Clinical, electrophysiological and morphological findings of Charcot–Marie–Tooth neuropathy with vocal cord palsy and mutations in the GDAP1 gene by Sevilla, Teresa, Cuesta, Ana, Chumillas, María José, Mayordomo, Fernando, Pedrola, Laia, Palau, Francesc, Vílchez, Juan J.

“…Three Spanish families with an autosomal recessive severe hereditary motor and sensory neuropathy, showing mutations in the…”
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Assessing differential expression measurements by highly parallel pyrosequencing and DNA microarrays: a comparative study by Ariño, Joaquín, Casamayor, Antonio, Pérez, Julián Perez, Pedrola, Laia, Álvarez-Tejado, Miguel, Marbà, Martina, Santoyo, Javier, Dopazo, Joaquín

“…To explore the feasibility of pyrosequencing for quantitative differential gene expression analysis we have performed a comparative study of the results of the…”
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Advances in the molecular genetics of the hereditary neuropathies by Palau, F, Cuesta, A, Pedrola, L

“…We reviewed current knowledge of the molecular and genetic bases of hereditary peripheral neuropathies, with special emphasis on the senso motor neuropathies…”
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A novel Met116Thr mutation in the GDAP1 gene in a Polish family with the axonal recessive Charcot–Marie–Tooth type 4 disease by Kabzińska, Dagmara, Kochański, Andrzej, Drac, Hanna, Rowińska-Marcińska, Katarzyna, Ryniewicz, Barbara, Pedrola, Laia, Palau, Francesc, Hausmanowa-Petrusewicz, Irena

“…Mutations in the gene coding for ganglioside-induced differentiation-associated protein-1 (GDAP1), which maps to chromosome 8q21, have been described in…”
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Great clinical variability of Nance Horan syndrome due to deleterious NHS mutations in two unrelated Spanish families by Hernández, V., Pascual-Camps, I., Aparisi, M. J., Martínez-Matilla, M., Martínez, F., Cerón, J. A, Pedrola, L.

“…Background: Nance-Horan syndrome (NHS) is an X-linked rare congenital disorder caused by mutations in the NHS gene. Clinical manifestations include congenital…”
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Esto no es teatro This is not theatre by José L. Bimbela-Pedrola

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Avances en la genética molecular de las neuropatías hereditarias by Palau Martínez, Francesc, Cuesta Peredo, Ana, Pedrola Vidal, Laia

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