about
CX3CR1 is a modifying gene of survival and progression in amyotrophic lateral sclerosisMutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia.Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect.Novel mutation in the PYGM gene resulting in McArdle disease.Autoimmune-like hepatitis during masitinib therapy in an amyotrophic lateral sclerosis patient.Influence of early neurological complications on clinical outcome following lung transplantLimb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene.Generalized muscle pseudo-hypertrophy and stiffness associated with the myotilin Ser55Phe mutation: a novel myotilinopathy phenotype?Most expression and splicing changes in myotonic dystrophy type 1 and type 2 skeletal muscle are shared with other muscular dystrophies.Lithium for treatment of amyotrophic lateral sclerosis: much ado about nothing.ALS Untangled No. 20: the Deanna protocol.Cystinosis in adult and adolescent patients: Recommendations for the comprehensive care of cystinosis.A coordinated transition model for patients with cystinosis: from pediatrics to adult care.Progressive presynaptic dopaminergic deterioration in Huntington disease: a [123I]-FP-CIT SPECT two-year follow-up study.Mutagenic stress modulates the dynamics of CTG repeat instability associated with myotonic dystrophy type 1.Study of the prevalence of familial autoimmune myasthenia gravis in a Spanish cohort.UNC13A confers risk for sporadic ALS and influences survival in a Spanish cohort.New hope for patients with pure lower motor neurons syndromes.Does reduced [(123)I]-FP-CIT binding in Huntington's disease suggest pre-synaptic dopaminergic involvement?Atypical form of amyotrophic lateral sclerosis: a new term to define a previously well known form of ALS.Dysphagia due to Chiari I malformation mimicking ALS.Flail arm syndrome of Vulpian-Bernhart's form of amyotrophic lateral sclerosis.A mitochondrial DNA duplication as a marker of skeletal muscle specific mutations in the mitochondrial genome.Characterisation of repeat and palindrome elements in patients harbouring single deletions of mitochondrial DNA.Phenotypic variability in a Spanish family with MNGIE.Reversion of mtDNA depletion in a patient with TK2 deficiency.Two novel mutations in the muscle glycogen phosphorylase gene in McArdle's disease.Do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal dominant inheritance of spastic paraplegia.A novel thymidine phosphorylase mutation in a Spanish MNGIE patient.SOM0226, a repositioned compound for the treatment of TTR amyloidosis.No need for more muscle biopsies in members of the Spanish LGMD1F family. The gene has been identified at last.[Minocycline for the treatment of amyotrophic lateral sclerosis: neuroprotector or neurotoxin? Reflections on another failure of translational medicine]Influence of ectopic thymic tissue on clinical outcome following extended thymectomy in generalized seropositive nonthymomatous myasthenia gravis.Tacrolimus for myasthenia gravis: a clinical study of 212 patients.Intravenous immunoglobulin as monotherapy for myasthenia gravis during pregnancy.Screening for the presence of FMR1 premutation alleles in a Spanish population with fibromyalgia.A novel exon 5 mutation (N139H) in the SOD1 gene in a Spanish family associated with incomplete penetrance.Cellular transplants in amyotrophic lateral sclerosis patients: an observational study.The A8344G mutation in mitochondrial DNA associated with stroke-like episodes and gastrointestinal dysfunction.Abnormal brainstem auditory evoked responses in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): evidence of delayed central conduction time.
P50
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P50
description
Spaans onderzoeker
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hulumtues
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researcher
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taighdeoir
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հետազոտող
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name
Josep Gamez
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Josep Gamez
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Josep Gamez
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Josep Gamez
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Josep Gamez
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Josep Gamez
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label
Josep Gamez
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Josep Gamez
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Josep Gamez
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Josep Gamez
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Josep Gamez
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Josep Gamez
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prefLabel
Josep Gamez
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Josep Gamez
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Josep Gamez
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Josep Gamez
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Josep Gamez
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Josep Gamez
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P106
P21
P27
P2798
P31
P496
0000-0003-3127-7486