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Lista de obras de Francesc Palau

11q23 abnormalities in children with acute nonlymphocytic leukemia (M4–M5)

artículo científico publicado en 1990

5-Oxoprolinuria in Heterozygous Patients for 5-Oxoprolinase (OPLAH) Missense Changes

artículo científico publicado en 2012

A family segregating a Friedreich ataxia phenotype that is not linked to the FRDA locus

article published in 1996

A family segregating a Friedreich ataxia phenotype that is not linked to the FRDA locus

artículo científico publicado en 1996

A novel Met116Thr mutation in the GDAP1 gene in a Polish family with the axonal recessive Charcot-Marie-Tooth type 4 disease

artículo científico publicado en 2006

A novel delins mutation in the alpha-TTP gene in a family segregating ataxia with isolated vitamin E deficiency

artículo científico publicado en 2008

A novel locus for a hereditary recurrent neuropathy on chromosome 21q21.

artículo científico publicado en 2014

ANKK1 is found in myogenic precursors and muscle fibers subtypes with glycolytic metabolism.

artículo científico publicado en 2018

Allelic distribution and the effect of haplotype combination for HLA type II loci in the celiac disease population of the Valencian community (Spain).

artículo científico publicado en 2009

Ancient origin of the CAG expansion causing Huntington disease in a Spanish population.

artículo científico publicado en 2005

Ancient origin of the CTH alelle carrying the c.200C>T (p.T67I) variant in patients with cystathioninuria

artículo científico publicado en 2010

Autosomal recessive cerebellar ataxias

artículo científico publicado en 2006

Behavioral addictions in early-onset Parkinson disease are associated with DRD3 variants

artículo científico publicado en 2018

Biomarkers research in neuromuscular disease Charcot-Marie-Tooth

artículo científico publicado en 2014

CHRNG-related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings

artículo científico publicado en 2019

CMT-linked loss-of-function mutations in GDAP1 impair store-operated Ca2+ entry-stimulated respiration.

artículo científico publicado en 2017

CSVS, a crowdsourcing database of the Spanish population genetic variability

artículo científico publicado en 2020

Calcium Deregulation and Mitochondrial Bioenergetics in GDAP1-Related CMT Disease

artículo científico publicado en 2019

Call for participation in the neurogenetics consortium within the Human Variome Project

artículo científico publicado en 2011

Cell expression of GDAP1 in the nervous system and pathogenesis of Charcot-Marie-Tooth type 4A disease

scientific journal article

Central motor conduction time by magnetic stimulation of the cortex and peripheral nerve conduction follow-up studies in Friedreich's ataxia

artículo científico publicado en 1997

Cerebellar ataxia with coenzyme Q10 deficiency: Diagnosis and follow-up after coenzyme Q10 supplementation

Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experience

artículo científico publicado en 2018

Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series

artículo científico publicado en 2013

Charcot-Marie-Tooth-related gene GDAP1 complements cell cycle delay at G2/M phase in Saccharomyces cerevisiae fis1 gene-defective cells

artículo científico publicado en 2011

Chromosome 5 abnormalities in acute lymphoblastic leukemia

scientific article published on 01 April 1991

Classical Friedreich’s Ataxia and Its Genotype

Clinical features and genetic analysis of a Spanish family with spinocerebellar ataxia 6

article

Clinical, electrophysiological and morphological findings of Charcot-Marie-Tooth neuropathy with vocal cord palsy and mutations in the GDAP1 gene

artículo científico publicado en 2003

Clinical, genetic and electrophysiologic correlation in hereditary neuropathy with liability to pressure palsies with involvement of PMP22 gene at chromosome 17p11.2

article

Coenzyme Q10-responsive ataxia: 2-year-treatment follow-up

artículo científico publicado en 2010

Congenital hypomyelinating neuropathy due to a novel MPZ mutation

scientific article published on 01 December 2011

Correction: ANKK1 is found in myogenic precursors and muscle fibers subtypes with glycolytic metabolism.

artículo científico publicado en 2018

Cytogenetic evidence of involvement of an early progenitor myeloid cell in 4;11 translocation-associated acute leukemia

article

Cytogenetic, FISH and DNA studies in 11 individuals from a family with two siblings with dup(21q) Down syndrome

artículo científico publicado en 1993

Decoding Neuromuscular Disorders Using Phenotypic Clusters Obtained From Co-Occurrence Networks

artículo científico publicado en 2021

Determinants for research on rare diseases

artículo científico publicado en 2010

Diagnostic strategy for familial and sporadic cases of neuropathy associated with 17p11.2 deletion

article published in 2001

Differential expression of PGC-1α and metabolic sensors suggest age-dependent induction of mitochondrial biogenesis in Friedreich ataxia fibroblasts

artículo científico publicado en 2011

Disruption of the ATP-binding cassette B7 (ABTM-1/ABCB7) induces oxidative stress and premature cell death in Caenorhabditis elegans

artículo científico publicado en 2011

Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain

artículo científico publicado en 2017

Dnop56, a Drosophila gene homologous to the yeast nucleolar NOP56 gene

artículo científico publicado en 2000

Dysfunctional mitochondrial fission impairs cell reprogramming

artículo científico publicado en 2016

Early-onset ataxia with cardiomyopathy and retained tendon reflexes maps to the friedreich's ataxia locus on chromosome 9q

artículo científico publicado en 1995

Enfermedades raras, un paradigma emergente en la medicina del siglo XXI

Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study

scientific article published on 01 January 1996

Evidence for a common origin of most Friedreich ataxia chromosomes in the Spanish population

artículo científico publicado en 1996

Evolutionary History of the Smyd Gene Family in Metazoans: A Framework to Identify the Orthologs of Human Smyd Genes in Drosophila and Other Animal Species

artículo científico publicado en 2015

Evolutionary and structural analyses of GDAP1, involved in Charcot-Marie-Tooth disease, characterize a novel class of glutathione transferase-related genes

artículo científico publicado en 2003

Fine mapping of de novo CMT1A and HNPP rearrangements within CMT1A-REPs evidences two distinct sex-dependent mechanisms and candidate sequences involved in recombination

artículo científico publicado en 1998

Flavin adenine dinucleotide rescues the phenotype of frataxin deficiency

artículo científico publicado en 2010

Frataxin interacts functionally with mitochondrial electron transport chain proteins

artículo científico publicado en 2005

Friedreich ataxia: an update on animal models, frataxin function and therapies

artículo científico publicado en 2009

Friedreich's ataxia and frataxin: molecular genetics, evolution and pathogenesis (Review).

artículo científico publicado en 2001

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion

artículo científico publicado en 1996

GAA trinucleotide repeat expansion in variant Friedreich's ataxia families

scientific article published on 01 September 1997

GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria

artículo científico publicado en 2005

Gene symbol: SH3TC2. Disease: Charcot-Marie-Tooth type 4C.

artículo científico publicado en 2008

Genetic analyses of celiac disease in a Spanish population confirm association with CELIAC3 but not with CELIAC4

article

Genetic diagnosis of Friedreich's ataxia

artículo científico publicado en 1991

Genetic localisation of mental retardation with spastic diplegia to the pericentromeric region of the X chromosome: X inactivation in female carriers.

artículo científico publicado en 1998

Genetics and pathogenesis of inherited ataxias and spastic paraplegias

artículo científico publicado en 2009

Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect

artículo científico publicado en 2005

Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth.

artículo científico publicado en 2012

Genetics of the SCA6 gene in a large family segregating an autosomal dominant "pure" cerebellar ataxia.

artículo científico publicado en 1999

Genoma humano y medicina

Genome sequence of the nematode C. elegans: a platform for investigating biology

artículo científico publicado en 1998

Genotype and phenotype analysis of Friedreich's ataxia compound heterozygous patients

article

Guiametabolica.org: empowerment through internet tools in inherited metabolic diseases

artículo científico publicado en 2012

Gut microbiota trajectory in early life may predict development of celiac disease

artículo científico publicado en 2018

Hereditary neuropathy with liability to pressure palsies (HNPP) revealed after weight loss

artículo científico publicado en 1997

Homologous DNA Exchanges in Humans Can Be Explained by the Yeast Double-Strand Break Repair Model: A Study of 17p11.2 Rearrangements Associated with CMT1A and HNPP

article

Hyaline fibromatosis syndrome: Clinical update and phenotype-genotype correlations

artículo científico publicado en 2018

Incipient GAA repeats in the primate Friedreich ataxia homologous genes

artículo científico publicado en 1999

Increased prevalence of pathogenic bacteria in the gut microbiota of infants at risk of developing celiac disease: the PROFICEL study.

artículo científico publicado en 2018

Influence of breastfeeding versus formula feeding on lymphocyte subsets in infants at risk of coeliac disease: the PROFICEL study.

artículo científico publicado en 2012

Influence of environmental and genetic factors linked to celiac disease risk on infant gut colonization by Bacteroides species.

artículo científico publicado en 2011

Influence of milk-feeding type and genetic risk of developing coeliac disease on intestinal microbiota of infants: the PROFICEL study.

artículo científico publicado en 2012

Influence of the sex of the transmitting grandparent in congenital myotonic dystrophy

artículo científico publicado en 1995

Inherited neuromuscular diseases. Translation from pathomechanisms to therapies

artículo científico publicado en 2009

Interplay between human leukocyte antigen genes and the microbial colonization process of the newborn intestine.

artículo científico publicado en 2009

Intronic GAA triplet repeat expansion in Friedreich's ataxia presenting with pure sensory ataxia

artículo científico publicado en 1997

Junctophilin-1 is a modifier gene of GDAP1-related Charcot-Marie-Tooth disease.

artículo científico publicado en 2014

Lack of GDAP1 induces neuronal calcium and mitochondrial defects in a knockout mouse model of charcot-marie-tooth neuropathy

artículo científico publicado en 2015

Localization of a gene for X-linked nonspecific mental retardation (MRX24) in Xp22.2-p22.3.

artículo científico publicado en 1995

Mechanism of suppression of the depressed lymphocyte response in lung cancer patients

artículo científico publicado en 1985

Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability

artículo científico publicado en 2010

Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway.

artículo científico publicado en 2009

Mitochondria-lysosome membrane contacts are defective in GDAP1-related Charcot-Marie-Tooth disease

artículo científico publicado en 2020

Mitochondrial dysfunction induced by frataxin deficiency is associated with cellular senescence and abnormal calcium metabolism

artículo científico publicado en 2014

Mitochondrial pathophysiology in Friedreich's ataxia

artículo científico

Molecular analysis of the Friedreich's ataxia locus.

artículo científico publicado en 1993

Molecular diagnosis of coenzyme Q10 deficiency.

artículo científico

Molecular genetics in neurology (III). Contribution to the knowledge of molecular pathology

artículo científico publicado en 1991

Motion estimation of subcellular structures from fluorescence microscopy images.

artículo científico publicado en 2017

Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease

scientific article published on 10 January 2019

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

article

Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy

artículo científico publicado en 2002

Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease.

artículo científico publicado en 2015

Mutations in the urocanase gene UROC1 are associated with urocanic aciduria

artículo científico publicado en 2009

Neural and molecular features on Charcot-Marie-Tooth disease plasticity and therapy

artículo científico

Neuroinflammation in the pathogenesis of axonal Charcot-Marie-Tooth disease caused by lack of GDAP1

scientific article published on 02 July 2019

Nucleolus organizer regions (NORs) inserted in 6q15

artículo científico publicado en 1989

Origin of the de novo duplication in Charcot — Marie — Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis

artículo científico publicado en 1993

Peroneal neuropathy after weight loss

artículo científico publicado en 2000

Personalized medicine in rare diseases

Phenotype and natural history of inherited neuropathies caused by HSJ1 c.352+1G>A mutation.

artículo científico publicado en 2016

Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeat

artículo científico publicado en 1997

Phenotypical features of a new dominant GDAP1 pathogenic variant (p.R226del) in axonal Charcot-Marie-Tooth disease

artículo científico publicado en 2017

Phenotypical features of the p.R120W mutation in the GDAP1 gene causing autosomal dominant Charcot-Marie-Tooth disease

artículo científico publicado en 2010

Phosphodiesterase Inhibitors Revert Axonal Dystrophy in Friedreich's Ataxia Mouse Model

artículo científico publicado en 2019

Plasma metabolome and skin proteins in Charcot-Marie-Tooth 1A patients

artículo científico publicado en 2017

Prenatal diagnosis of friedreich ataxia: Improved accuracy by using new genetic flanking markers

artículo científico publicado en 1995

Prevalence and parental origin of de novo 1.5-Mb duplication in Charcot-Marie-Tooth disease type 1A.

artículo científico publicado en 1997

Provision and quality assurance of preimplantation genetic diagnosis in Europe

artículo científico publicado en 2008

Reduction of Caenorhabditis elegans frataxin increases sensitivity to oxidative stress, reduces lifespan, and causes lethality in a mitochondrial complex II mutant

artículo científico publicado en 2005

Results of a program of presymptomatic diagnosis of Huntington's disease: evaluation of a 6 year period

artículo científico publicado en 2001

Reversible Axonal Dystrophy by Calcium Modulation in Frataxin-Deficient Sensory Neurons of YG8R Mice.

artículo científico publicado en 2017

Sh3tc2 deficiency affects neuregulin-1/ErbB signaling

scientific journal article

Silencing of the Charcot-Marie-Tooth disease-associated gene GDAP1 induces abnormal mitochondrial distribution and affects Ca2+ homeostasis by reducing store-operated Ca2+ entry

artículo científico publicado en 2013

Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism

artículo científico publicado en 2016

The EGR2 gene is involved in axonal Charcot-Marie-Tooth disease.

artículo científico publicado en 2015

The Friedreich ataxia critical region spans a 150-kb interval on chromosome 9q13

artículo científico publicado en 1995

The HLA-DQ2 genotype selects for early intestinal microbiota composition in infants at high risk of developing coeliac disease.

artículo científico publicado en 2014

The Increasing Impact of Translational Research in the Molecular Diagnostics of Neuromuscular Diseases

artículo científico publicado en 2021

The Phenotype and Genotype of Congenital Myopathies Based on a Large Pediatric Cohort

artículo científico publicado en 2020

The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia

artículo científico

The USH2A c.2299delG mutation: dating its common origin in a Southern European population

artículo científico publicado en 2010

The addiction-related gene ANKK1 in Parkinsonian patients with impulse control disorder.

artículo científico publicado en 2014

The frataxin-encoding operon of Caenorhabditis elegans shows complex structure and regulation

artículo científico publicado en 2006

The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease

artículo científico publicado en 2002

The gene for Friedreich's ataxia: a landmark for neurology and for human genetics

artículo científico publicado en 1996

The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4.

artículo científico publicado en 2007

The role of mitochondrial network dynamics in the pathogenesis of Charcot-Marie-Tooth disease.

artículo científico publicado en 2009

Tissue and tumor mosaicism of the myotonin protein kinase gene trinucleotide repeat in a patient with multiple basal cell carcinomas associated with myotonic dystrophy

artículo científico publicado en 2004

Translational Diagnostics: An In-House Pipeline to Validate Genetic Variants in Children with Undiagnosed and Rare Diseases

artículo científico publicado en 2020

Translocation (12;14)(q13;q32) in myelodysplastic syndrome.

artículo científico publicado en 1993

Two different pathogenic mechanisms, dying-back axonal neuropathy and pancreatic senescence, are present in the YG8R mouse model of Friedreich's ataxia

artículo científico publicado en 2016

Unique origin and low penetrance of the 946delGAG mutation in Valencian DYT1 families

artículo científico publicado en 2003

Unusual clinical findings and Complex III deficiency in a family with myotonic dystrophy

artículo científico publicado en 2003

Vestibular impairment in Charcot-Marie-Tooth disease type 4C.

artículo científico publicado en 2014

Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathy

artículo científico publicado en 2008

X-linked infantile spinal muscular atrophy: clinical definition and molecular mapping

artículo científico publicado en 2007

[Advances in the molecular genetics of the hereditary neuropathies]

artículo científico publicado en 2002

[Deletion of 17p11.2 chromosome in Spanish families with hereditary neuropathy and abnormal sensitivity to pressure]

artículo científico publicado en 1995

[Genetics of peripheral neuropathies and hereditary ataxias]

artículo científico publicado en 1995

[Late onset and slow course of Friedreich ataxia. A clinical electrophysiological molecular genetic study]

scientific article published on 01 May 1998

[Neuroimaging study with morphometric analysis of hereditary and idiopathic ataxia]

artículo científico publicado en 2001

[Recurrent familial brachial plexopathy as the only clinical expression of neuropathy with susceptibility to pressure]

artículo científico publicado en 2000

[The diagnosis and prevalence of locus CMT1A duplication in Charcot-Marie-Tooth disease type 1]

scientific article published on 01 May 1995

dfh is a Drosophila homolog of the Friedreich's ataxia disease gene

artículo científico publicado en 2000

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