about
GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondriaGenetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effectThe gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A diseaseMutations in GDAP1: autosomal recessive CMT with demyelination and axonopathyA novel Met116Thr mutation in the GDAP1 gene in a Polish family with the axonal recessive Charcot-Marie-Tooth type 4 diseaseThe transcriptome analysis of Strongyloides stercoralis L3i larvae reveals targets for intervention in a neglected diseaseMicrobial diversity in the midguts of field and lab-reared populations of the European corn borer Ostrinia nubilalisCell expression of GDAP1 in the nervous system and pathogenesis of Charcot-Marie-Tooth type 4A diseaseDe novo assembly and functional annotation of the olive (Olea europaea) transcriptomeHigh-throughput sequencing of RNA silencing-associated small RNAs in olive (Olea europaea L.).Assessing differential expression measurements by highly parallel pyrosequencing and DNA microarrays: a comparative study.The transcriptome of Echinostoma caproni adults: further characterization of the secretome and identification of new potential drug targets.Evolutionary and structural analyses of GDAP1, involved in Charcot-Marie-Tooth disease, characterize a novel class of glutathione transferase-related genes.Delayed Presentation and Prolonged Survival of a Child with Surfactant Protein B Deficiency.Prognostic impact of gene mutations in myelodysplastic syndromes with ring sideroblasts.Clinical, electrophysiological and morphological findings of Charcot-Marie-Tooth neuropathy with vocal cord palsy and mutations in the GDAP1 gene.[Advances in the molecular genetics of the hereditary neuropathies]New mutations found by Next-Generation Sequencing screening of Spanish patients with Nemaline MyopathyNegative impact on clinical outcome of the mutational co-occurrence of SF3B1 and DNMT3A in refractory anemia with ring sideroblasts (RARS)El nuevo reto en oncología: la secuenciación NGS y su aplicación a la medicina de precisiónGreat clinical variability of Nance Horan syndrome due to deleterious NHS mutations in two unrelated Spanish families
P50
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P50
description
hulumtuese
@sq
onderzoeker
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researcher
@en
հետազոտող
@hy
name
Laia Pedrola
@ast
Laia Pedrola
@en
Laia Pedrola
@es
Laia Pedrola
@nl
Laia Pedrola
@sl
type
label
Laia Pedrola
@ast
Laia Pedrola
@en
Laia Pedrola
@es
Laia Pedrola
@nl
Laia Pedrola
@sl
prefLabel
Laia Pedrola
@ast
Laia Pedrola
@en
Laia Pedrola
@es
Laia Pedrola
@nl
Laia Pedrola
@sl
P106
P21
P31
P496
0000-0002-3031-6124