Search Results - "Palau, F."

The HLA-DQ2 genotype selects for early intestinal microbiota composition in infants at high risk of developing coeliac disease by Olivares, M, Neef, A, Castillejo, G, Palma, G De, Varea, V, Capilla, A, Palau, F, Nova, E, Marcos, A, Polanco, I, Ribes-Koninckx, C, Ortigosa, L, Izquierdo, L, Sanz, Y

“…Intestinal dysbiosis has been associated with coeliac disease (CD), but whether the alterations are cause or consequence of the disease is unknown. This study…”
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Comparative study of gastrointestinal tract size in three parent breeds for the production of dual‐purpose organic chickens by Neuhaus, N., Lierz, M., Möller Palau‐Ribes, F.

“…An alternative to culling male hatchlings of layers is breeding dual‐purpose chickens. One breeding objective is the ability to digest low‐quality feed…”
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Mycoplasma hafezii sp. nov., isolated from the trachea of a peregrine falcon (Falco peregrinus) by Ziegler, L, Möller Palau-Ribes, F, Enderlein, D, Herbst, W, Schmidt, L, Lierz, M

“…Mycoplasma species are well known pathogens in avian medicine, especially in poultry. However, several Mycoplasma species have been regularly found in the…”
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Phenotype and natural history of inherited neuropathies caused by HSJ1 c.352+1G>A mutation by Frasquet, M, Chumillas, M J, Vílchez, J J, Márquez-Infante, C, Palau, F, Vázquez-Costa, J F, Lupo, V, Espinós, C, Sevilla, T

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The EGR2 gene is involved in axonal Charcot−Marie−Tooth disease by Sevilla, T., Sivera, R., Martínez-Rubio, D., Lupo, V., Chumillas, M. J., Calpena, E., Dopazo, J., Vílchez, J. J., Palau, F., Espinós, C.

“…Background and purpose A three‐generation family affected by axonal Charcot−Marie−Tooth disease (CMT) was investigated with the aim of discovering genetic…”
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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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Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathy by Sevilla, Teresa, Jaijo, Teresa, Nauffal, Dolores, Collado, Diego, Chumillas, María José, Vilchez, Juan J., Muelas, Nuria, Bataller, Luis, Domenech, Rosalía, Espinós, Carmen, Palau, Francesc

“…Cranial nerve involvement in Charcot-Marie-Tooth disease (CMT) is rare, though there are a number of CMT syndromes in which vocal cord paralysis is a…”
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Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth by Sevilla, T, Martínez-Rubio, D, Márquez, C, Paradas, C, Colomer, J, Jaijo, T, Millán, JM, Palau, F, Espinós, C

“…Four private mutations responsible for three forms demyelinating of Charcot‐Marie‐Tooth (CMT) or hereditary motor and sensory neuropathy (HMSN) have been…”
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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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Interplay between human leukocyte antigen genes and the microbial colonization process of the newborn intestine by De Palma, G, Capilla, A, Nadal, I, Nova, E, Pozo, T, Varea, V, Polanco, I, Castillejo, G, López, A, Garrote, J A, Calvo, C, García-Novo, M D, Cilleruelo, M L, Ribes-Koninckx, C, Palau, F, Sanz, Y

“…Coeliac disease (CD) development involves genetic (HLA-DQ2/DQ8) and environmental factors. Herein, the influence of the HLA-DQ genotype on the gut colonization…”
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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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Clinical and genetics characterization of children with Myoclonus Dystonia Syndrome by Vanegas, M, Marti, L, Darling, A, Ortigoza, D, Candela, S, Aguilera, S, Campistol, J, Martorell, L, Palau, F, Perez-Dueñas, B

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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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Friedreich's ataxia and frataxin: molecular genetics, evolution and pathogenesis (Review) by Palau, F

“…Friedreich's ataxia is an autosomal recessive neuro-degenerative disorder involving both central and peripheral nervous system. Patients also show a systemic…”
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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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A novel locus for a hereditary recurrent neuropathy on chromosome 21q21 by Calpena, E, Martínez-Rubio, D, Arpa, J, García-Peñas, J.J, Montaner, D, Dopazo, J, Palau, F, Espinós, C

“…Highlights • We report a family presenting a new form of hereditary recurrent neuropathy. • The locus responsible for disease is located on chromosome 21q21. •…”
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MGMT methylation and its prognostic significance in inoperable IDH-wildtype glioblastoma: the MGMT-GBM study by Ghimire, Prajwal, Kamaludin, Ahmad, Palau, Berta F., Lavrador, Jose P., Gullan, Richard, Vergani, Francesco, Bhangoo, Ranjeev, Ashkan, Keyoumars

“…Introduction The methylation of the O6-Methylguanine-DNA Methyltransferase (MGMT) promoter is a valid biomarker for predicting response to therapy with…”
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Mutations in the urocanase gene UROC1 are associated with urocanic aciduria by Espinós, C, Pineda, M, Martínez-Rubio, D, Lupo, V, Ormazabal, A, Vilaseca, M A, Spaapen, L J M, Palau, F, Artuch, R

“…Urocanase is an enzyme in the histidine pathway encoded by the UROC1 gene. This report describes the first putative mutations, p.L70P and p.R450C, in the…”
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The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4 by Claramunt, R, Sevilla, T, Lupo, V, Cuesta, A, Millán, JM, Vílchez, JJ, Palau, F, Espinós, C

“…Charcot–Marie–Tooth (CMT) disease type 4 (CMT4) is the name given to autosomal recessive forms of hereditary motor and sensory neuropathy (HMSN). When we began…”
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G.P.89 Early onset mitofusin 2 gene (MFN2) mutation: Report of eight patients by Colomer, J, Nascimento, A, Ortez, C, Salerno, G, Garcı´a Catalán, M.J, Jimenez-Mallebrera, C, Pons, M, Palau, F, Baas, F

“…Abstract Mutations in the mitofusin 2 gene (MFN2), encoding an outer mitochondrial membrane protein of the dynamin family GTPase, cause mainly…”
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