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List of works by Francesc Palau

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

scientific article published on 01 March 1990

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

scientific article published on 6 July 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

scientific article published on 01 June 1996

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

scientific article

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

scientific article published in September 2008

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

scientific article published on 9 May 2014

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

scientific article

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

scientific article published in March 2009

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

scientific article published in May 2005

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

scientific article published in December 2010

Autosomal recessive cerebellar ataxias

scientific article

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

scientific article published on 12 January 2018

Biomarkers research in neuromuscular disease Charcot-Marie-Tooth

scientific article published on 01 October 2014

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

scientific article published on 14 March 2019

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

scientific article published on 21 February 2017

CSVS, a crowdsourcing database of the Spanish population genetic variability

scientific article published on 29 September 2020

Calcium Deregulation and Mitochondrial Bioenergetics in GDAP1-Related CMT Disease

scientific article published on 18 January 2019

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

scientific article published in June 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

scientific article published in December 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

scientific article published on 04 July 2018

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

scientific article published on 27 September 2013

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

scientific article

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

scientific article published on 23 June 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

scientific article published on 01 July 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.

scientific article

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

scientific article published on September 1993

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

scientific article published on 19 April 2021

Determinants for research on rare diseases

scientific article published on 19 October 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

scientific article

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

scientific article

Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain

scientific article published on 27 July 2017

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

scientific article published in January 2000

Dysfunctional mitochondrial fission impairs cell reprogramming

scientific article

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

scientific article published on 01 March 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

scientific article published in January 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

scientific article

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

scientific article published on 31 October 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

scientific article published in January 1998

Flavin adenine dinucleotide rescues the phenotype of frataxin deficiency

scientific article

Frataxin interacts functionally with mitochondrial electron transport chain proteins

scientific article

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

scientific article published on January 2009

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

article

Genetic diagnosis of Friedreich's ataxia

scientific article published in The Lancet

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

scientific article

Genetics and pathogenesis of inherited ataxias and spastic paraplegias

scientific article published on January 2009

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

scientific article

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

scientific article

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

scientific article

Genoma humano y medicina

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

scientific article

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

article

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

scientific article published on 21 August 2012

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

scientific article published on 20 February 2018

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

scientific article published in January 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

scientific article published on 17 September 2018

Incipient GAA repeats in the primate Friedreich ataxia homologous genes

scientific article published in June 1999

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

scientific article published on 19 April 2018

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

scientific article

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

scientific article

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

scientific article

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

scientific article

Inherited neuromuscular diseases. Translation from pathomechanisms to therapies

scientific article published on 01 January 2009

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

scientific article published on 28 May 2009

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

scientific article published on 01 June 1997

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

scientific article published on 28 August 2014

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

scientific article

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

scientific article

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

scientific article published on 01 May 1985

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

scientific article

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

scientific article

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

scientific article published on 06 November 2020

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

scientific article

Mitochondrial pathophysiology in Friedreich's ataxia

scientific article published on August 2013

Molecular analysis of the Friedreich's ataxia locus.

scientific article published on January 1993

Molecular diagnosis of coenzyme Q10 deficiency.

scientific article published on 04 July 2015

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

scientific article published in November 1991

Motion estimation of subcellular structures from fluorescence microscopy images.

scientific article

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

scientific article (publication date: 24 December 2002)

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

scientific article published on 24 October 2015

Mutations in the urocanase gene UROC1 are associated with urocanic aciduria

scientific article

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

scientific article published on 13 June 2012

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

scientific article published on 01 February 1989

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

scientific article published on 01 December 1993

Peroneal neuropathy after weight loss

scientific article published in June 2000

Personalized medicine in rare diseases

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

scientific article published on 15 April 2016

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

scientific article

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

scientific article published on 17 January 2017

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

scientific article published on December 2010

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

scientific article published on 01 April 2019

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

scientific article

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

scientific article published on 01 June 1995

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

scientific article published in January 1997

Provision and quality assurance of preimplantation genetic diagnosis in Europe

scientific article

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

scientific article

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

scientific article

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

scientific article published on 30 August 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

scientific article published on 28 March 2013

Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism

scientific article

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

scientific article published on 24 July 2015

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

scientific article

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

scientific article

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

scientific article published on 20 April 2021

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

scientific article published on 05 November 2020

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

scientific article published on 26 August 2013

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

scientific article

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

scientific article published on 2 December 2014

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

scientific article published on 15 December 2006

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

scientific article (publication date: 2002)

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

scientific article published on 01 May 1996

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

scientific article

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

scientific article published on January 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

scientific article published on February 2004

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

scientific article published on 24 October 2020

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

scientific article published in January 1993

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

scientific article published on 14 April 2016

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

scientific article published on 01 August 2003

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

scientific article published on April 2003

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

scientific article published on 10 March 2014

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

scientific article published on 23 September 2008

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

scientific article

[Advances in the molecular genetics of the hereditary neuropathies]

scientific article published on 01 August 2002

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

scientific article published on 01 November 1995

[Genetics of peripheral neuropathies and hereditary ataxias]

scientific article published on 01 December 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]

scientific article published on 01 March 2001

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

scientific article published on 01 April 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

scientific article published in October 2000

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