User profiles for "author:Francesc Palau"
Francesc PalauHead of Dept. of Genetic and Molecular Medicine, Sant Joan de Déu Children's Hospital … Verified email at sjdhospitalbarcelona.org Cited by 13916 |
[HTML][HTML] Autosomal recessive cerebellar ataxias
Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare
neurological disorders involving both central and peripheral nervous system, and in some …
neurological disorders involving both central and peripheral nervous system, and in some …
Mitochondrial pathophysiology in Friedreich's ataxia
P González‐Cabo, F Palau - Journal of neurochemistry, 2013 - Wiley Online Library
Neurological examination indicates that Friedreich's ataxia corresponds to a mixed sensory
and cerebellar ataxia, which affects the proprioceptive pathways. Neuropathology and …
and cerebellar ataxia, which affects the proprioceptive pathways. Neuropathology and …
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… - Nature …, 2002 - nature.com
We identified three distinct mutations and six mutant alleles in GDAP1 in three families with
axonal Charcot-Marie-Tooth (CMT) neuropathy and vocal cord paresis, which were …
axonal Charcot-Marie-Tooth (CMT) neuropathy and vocal cord paresis, which were …
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… - Human molecular …, 2005 - academic.oup.com
Mutations in GDAP1, the ganglioside-induced differentiation-associated protein 1 gene,
cause Charcot–Marie–Tooth (CMT) type 4A, a severe autosomal recessive form of …
cause Charcot–Marie–Tooth (CMT) type 4A, a severe autosomal recessive form of …
Hyaline fibromatosis syndrome: Clinical update and phenotype–genotype correlations
D Casas‐Alba, A Martínez‐Monseny… - Human …, 2018 - Wiley Online Library
Hyaline fibromatosis syndrome (HFS) is the unifying term for infantile systemic hyalinosis
and juvenile hyaline fibromatosis. HFS is a rare autosomal recessive disorder of the …
and juvenile hyaline fibromatosis. HFS is a rare autosomal recessive disorder of the …
[PDF][PDF] Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeat
E Monrós, MD Moltó, F Martínez, J Canizares… - The American Journal of …, 1997 - cell.com
The Friedreich ataxia (FA) mutation has recently been identified as an unstable trinucleotide
GAA repeat present 7–22 times in the normal population but amplified as many as> 1, 000 …
GAA repeat present 7–22 times in the normal population but amplified as many as> 1, 000 …
Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect
R Claramunt, L Pedrola, T Sevilla… - Journal of medical …, 2005 - jmg.bmj.com
Charcot-Marie-Tooth (CMT) disease is a motor and sensory neuropathy with clinical and
genetic heterogeneity. Patients usually present in the first or second decade of life with distal …
genetic heterogeneity. Patients usually present in the first or second decade of life with distal …
[HTML][HTML] Influence of milk-feeding type and genetic risk of developing coeliac disease on intestinal microbiota of infants: the PROFICEL study
Interactions between environmental factors and predisposing genes could be involved in the
development of coeliac disease (CD). This study has assessed whether milk-feeding type …
development of coeliac disease (CD). This study has assessed whether milk-feeding type …
Frataxin interacts functionally with mitochondrial electron transport chain proteins
P Gonzalez-Cabo… - Human molecular …, 2005 - academic.oup.com
Frataxin deficiency is the main cause of Friedreich ataxia, an autosomal recessive
neurodegenerative disorder. Frataxin function in mitochondria has not been fully explained …
neurodegenerative disorder. Frataxin function in mitochondria has not been fully explained …
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… - Applied and …, 2011 - Am Soc Microbiol
Celiac disease (CD) is an immune-mediated enteropathy involving genetic and
environmental factors whose interaction might influence disease risk. The aim of this study …
environmental factors whose interaction might influence disease risk. The aim of this study …