Francesc Palau
Francesc Palau
Head of Dept. of Genetic and Molecular Medicine, Sant Joan de Déu Children's Hospital , Barcelona
Verified email at sjdhospitalbarcelona.org - Homepage
TitleCited byYear
Friedreich’s ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion
C V., M Montermini L., P L., C m., C f., M E., F Rodius, D f., M A., Z F., C J., ...
Science 271, 1423-1427, 1996
2595*1996
Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study
E Nelis, C Van Broeckhoven, P De Jonghe, A Löfgren, A Vandenberghe, ...
European Journal of Human Genetics 4 (1), 25-33, 1996
4641996
The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease
A Cuesta, L Pedrola, T Sevilla, J García-Planells, MJ Chumillas, ...
Nature genetics 30 (1), 22-25, 2002
3612002
GDAP1, the protein causing Charcot–Marie–Tooth disease type 4A, is expressed in neurons and is associated with mitochondria
L Pedrola, A Espert, X Wu, R Claramunt, ME Shy, F Palau
Human molecular genetics 14 (8), 1087-1094, 2005
1842005
Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy
E Nelis, S Erdem, PYK Van den Bergh, MC Belpaire–Dethiou, ...
Neurology 59 (12), 1865-1872, 2002
1822002
Autosomal recessive cerebellar ataxias
F Palau, C Espinós
Orphanet journal of rare diseases 1 (1), 47, 2006
1722006
The HLA-DQ2 genotype selects for early intestinal microbiota composition in infants at high risk of developing coeliac disease
M Olivares, A Neef, G Castillejo, G De Palma, V Varea, A Capilla, F Palau, ...
Gut 64 (3), 406-417, 2015
1712015
Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeat.
E Monrós, MD Moltó, F Martínez, J Canizares, J Blanca, JJ Vílchez, ...
American journal of human genetics 61 (1), 101, 1997
1661997
Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect
R Claramunt, L Pedrola, T Sevilla, AL de Munain, J Berciano, A Cuesta, ...
Journal of medical genetics 42 (4), 358-365, 2005
1652005
Frataxin interacts functionally with mitochondrial electron transport chain proteins
P Gonzalez-Cabo, RP Vázquez-Manrique, MA García-Gimeno, P Sanz, ...
Human molecular genetics 14 (15), 2091-2098, 2005
1502005
Origin of the de novo duplication in Charcot—Marie—Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis
F Palau, A Löfgren, PD Jonghe, S Bort, E Nelis, T Sevilla, JJ Martin, ...
Human molecular genetics 2 (12), 2031-2035, 1993
1441993
Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies
S Bort, E Nelis, V Timmerman, T Sevilla, A Cruz-Martínez, F Martínez, ...
Human genetics 99 (6), 746-754, 1997
1321997
Clinical, electrophysiological and morphological findings of Charcot–Marie–Tooth neuropathy with vocal cord palsy and mutations in the GDAP1 gene
T Sevilla, A Cuesta, MJ Chumillas, F Mayordomo, L Pedrola, F Palau, ...
Brain 126 (9), 2023-2033, 2003
1242003
Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability
F Zhang, P Seeman, P Liu, MAJ Weterman, C Gonzaga-Jauregui, ...
The American Journal of Human Genetics 86 (6), 892-903, 2010
1222010
Influence of milk-feeding type and genetic risk of developing coeliac disease on intestinal microbiota of infants: the PROFICEL study
G De Palma, A Capilla, E Nova, G Castillejo, V Varea, T Pozo, JA Garrote, ...
PloS one 7 (2), 2012
1192012
Early‐onset ataxia with cardiomyopathy and retained tendon reflexes maps to the Friedreich's ataxia locus on chromosome 9q
F Palau, G De Michele, JJ Vilchez, M Pandolfo, E Monrós, S Cocozza, ...
Annals of Neurology: Official Journal of the American Neurological …, 1995
1001995
Reduction of Caenorhabditis elegans frataxin increases sensitivity to oxidative stress, reduces lifespan, and causes lethality in a mitochondrial complex II mutant
RP Vázquez-Manrique, P González-Cabo, S Ros, H Aziz, HA Baylis, ...
The FASEB Journal 20 (1), 172-174, 2006
992006
Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series
R Sivera, T Sevilla, JJ Vílchez, D Martínez-Rubio, MJ Chumillas, ...
Neurology 81 (18), 1617-1625, 2013
972013
Influence of environmental and genetic factors linked to celiac disease risk on infant gut colonization by Bacteroides species
E Sánchez, G De Palma, A Capilla, E Nova, T Pozo, G Castillejo, V Varea, ...
Appl. Environ. Microbiol. 77 (15), 5316-5323, 2011
972011
The TREAT‐NMD D uchenne Muscular Dystrophy Registries: Conception, Design, and Utilization by Industry and Academia
CL Bladen, K Rafferty, V Straub, S Monges, A Moresco, H Dawkins, A Roy, ...
Human mutation 34 (11), 1449-1457, 2013
962013
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