Francesc Palau

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Carmen EspinósCentro de Investigación Príncipe Felipe (CIPF), ValenciaPotvrđena adresa e-pošte na cipf.es
Janet HoenickaHospital Sant Joan de DéuPotvrđena adresa e-pošte na sjd.es
Vincent TimmermanUniversity of Antwerp, VIBPotvrđena adresa e-pošte na molgen.vib-ua.be
Eduardo CalpenaPhD - Miguel Servet fellow at IIS La FePotvrđena adresa e-pošte na iislafe.es
Peter De JongheVIB Department of Molecular Genetics, Neurogenetics Group, University of Antwerp, Institute BornPotvrđena adresa e-pošte na molgen.vib-ua.be
Joaquin CañizaresCOMAV. Universidad Politécnica de ValenciaPotvrđena adresa e-pošte na upv.es
Joaquin DopazoComputational Medicine Platform, FPS, Hospital Virgen del Rocio, Sevilla, SpainPotvrđena adresa e-pošte na juntadeandalucia.es
Ignacio MarínConsejo Superior de Investigaciones CientíficasPotvrđena adresa e-pošte na ibv.csic.es
Adolfo Lopez de MunainJefe del Servicio de Neurología - Hospital Universitario Donostia / Director Área de NeurocienciasPotvrđena adresa e-pošte na osakidetza.eus
Luis Peña QuintanaCatedrático de Pediatría. Universidad de Las Palmas de Gran CanariaPotvrđena adresa e-pošte na ulpgc.es
Carlos B. RuedaColumbia UniversityPotvrđena adresa e-pošte na cumc.columbia.edu
Haluk TopalogluPotvrđena adresa e-pošte na hacettepe.edu.tr
JF Vázquez-CostaNeuromuscular Unit, Hospital La FePotvrđena adresa e-pošte na gva.es
Sergio CocozzaProfessor of Medical Genetics, University of Naples (Italy)Potvrđena adresa e-pošte na unina.it
Pengfei LiuMolecular and Human Genetics, Baylor College of MedicinePotvrđena adresa e-pošte na bcm.edu
Roman ChrastEPFLPotvrđena adresa e-pošte na epfl.ch
Josema TorresResearcher University of ValenciaPotvrđena adresa e-pošte na uv.es
Máximo Ibo GalindoCentro de Investigación Principe FelipePotvrđena adresa e-pošte na cipf.es
VERELLEN-DUMOULINInstitut de Pathologie et de génétiquePotvrđena adresa e-pošte na ipg.be
Fernando Gonzalez CandelasProfessor of Genetics, University of Valencia. Joint Res. Unit Infection & Public Health FISABIOPotvrđena adresa e-pošte na uv.es

Prati

Francesc Palau

SJD Distinguished Investigator, Sant Joan de Déu Children’s Hospital & Research Institute, Barcelona

Potvrđena adresa e-pošte na sjd.es - Početna stranica

clinical genetics and genomics neurogenetics neurobiology and mitochondria rare diseases


Naslov Poredaj po navodima Poredaj po godini Poredaj po naslovu	Citirano Citirano	Godina
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	3331*	1996
Genome Sequence of the Nematode C. elegans: A Platform for Investigating Biology THECES CONSORTIUM* Science 282 (5396), 2012-2018, 1998	2022*	1998
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	532	1996
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	445	2002
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	343	2015
Autosomal recessive cerebellar ataxias F Palau, C Espinós Orphanet journal of rare diseases 1, 1-19, 2006	254	2006
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	243	2005
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	218	2002
Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeat E Monrós, MD Moltó, F Martínez, J Canizares, J Blanca, JJ Vílchez, ... The American Journal of Human Genetics 61 (1), 101-110, 1997	214	1997
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	206	2005
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	184	2005
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), e30791, 2012	172	2012
Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series R Sivera, T Sevilla, JJ Vílchez, D Martinez-Rubio, MJ Chumillas, ... Neurology 81 (18), 1617-1625, 2013	160	2013
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, 746-754, 1997	158	1997
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	156	1993
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	152	2010
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	151	2003
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, ... Applied and environmental microbiology 77 (15), 5316-5323, 2011	146	2011
Evolutionary and structural analyses of GDAP1, involved in Charcot-Marie-Tooth disease, characterize a novel class of glutathione transferase-related genes A Marco, A Cuesta, L Pedrola, F Palau, I Marín Molecular biology and evolution 21 (1), 176-187, 2004	138	2004
Gut microbiota trajectory in early life may predict development of celiac disease M Olivares, AW Walker, A Capilla, A Benítez-Páez, F Palau, J Parkhill, ... Microbiome 6, 1-11, 2018	129	2018

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