List of works - Laia Pedrola

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

scientific article

Assessing differential expression measurements by highly parallel pyrosequencing and DNA microarrays: a comparative study.

scientific article published on 15 September 2011

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

scientific journal 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

De novo assembly and functional annotation of the olive (Olea europaea) transcriptome

scientific article

Delayed Presentation and Prolonged Survival of a Child with Surfactant Protein B Deficiency

scientific article published on 6 September 2017

El nuevo reto en oncología: la secuenciación NGS y su aplicación a la medicina de precisión

scientific article published on 24 June 2016

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

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

scientific article

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

scientific article

Great clinical variability of Nance Horan syndrome due to deleterious NHS mutations in two unrelated Spanish families

scientific article published on 22 November 2019

High-throughput sequencing of RNA silencing-associated small RNAs in olive (Olea europaea L.).

scientific article

Microbial diversity in the midguts of field and lab-reared populations of the European corn borer Ostrinia nubilalis

scientific article (publication date: 2011)

Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy

scientific article (publication date: 24 December 2002)

Negative impact on clinical outcome of the mutational co-occurrence of SF3B1 and DNMT3A in refractory anemia with ring sideroblasts (RARS)

scientific article published on 24 October 2016

New mutations found by Next-Generation Sequencing screening of Spanish patients with Nemaline Myopathy

scientific article published in PLoS ONE

Prognostic impact of gene mutations in myelodysplastic syndromes with ring sideroblasts

scientific article published on 20 November 2017

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 transcriptome analysis of Strongyloides stercoralis L3i larvae reveals targets for intervention in a neglected disease

scientific article

The transcriptome of Echinostoma caproni adults: further characterization of the secretome and identification of new potential drug targets.

scientific article published on 21 June 2013

[Advances in the molecular genetics of the hereditary neuropathies]

scientific article published on 01 August 2002

List of works by Laia Pedrola

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

Assessing differential expression measurements by highly parallel pyrosequencing and DNA microarrays: a comparative study.

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

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

De novo assembly and functional annotation of the olive (Olea europaea) transcriptome

Delayed Presentation and Prolonged Survival of a Child with Surfactant Protein B Deficiency

El nuevo reto en oncología: la secuenciación NGS y su aplicación a la medicina de precisión

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

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

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

Great clinical variability of Nance Horan syndrome due to deleterious NHS mutations in two unrelated Spanish families

High-throughput sequencing of RNA silencing-associated small RNAs in olive (Olea europaea L.).

Microbial diversity in the midguts of field and lab-reared populations of the European corn borer Ostrinia nubilalis

Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy

Negative impact on clinical outcome of the mutational co-occurrence of SF3B1 and DNMT3A in refractory anemia with ring sideroblasts (RARS)

New mutations found by Next-Generation Sequencing screening of Spanish patients with Nemaline Myopathy

Prognostic impact of gene mutations in myelodysplastic syndromes with ring sideroblasts

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

The transcriptome analysis of Strongyloides stercoralis L3i larvae reveals targets for intervention in a neglected disease

The transcriptome of Echinostoma caproni adults: further characterization of the secretome and identification of new potential drug targets.

[Advances in the molecular genetics of the hereditary neuropathies]