L. Pedrola

发表

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

A. Casamayor, J. Dopazo, M. Álvarez-Tejado, 2013, Omics : a journal of integrative biology.

Whole Blood Gene Expression Reveals Specific Transcriptome Changes in Neonatal Encephalopathy

S. Shankaran, M. Kaforou, L. Pedrola, 2018, Neonatology.

Hidden etiology of cerebral palsy: genetic and clinical heterogeneity and efficient diagnosis by next-generation sequencing

M. Roselló, C. Orellana, F. Martínez, 2020, Pediatric Research.

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

L. Pedrola, J. Vílchez, F. Palau, 2003, Brain : a journal of neurology.

Evolutionary Trends in the Mitochondrial Genome of Archaeplastida: How Does the GC Bias Affect the Transition from Water to Land?

C. Soler, L. Pedrola, A. Garmendia, 2020, Plants.

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

I. Fariñas, S. Scherer, L. Pedrola, 2007, Journal of cellular and molecular medicine.

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

J. Lupski, L. Pedrola, J. Berciano, 2006 .

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

J. Lupski, J. Millán, L. Pedrola, 2005 .

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

I. Marín, L. Pedrola, E. Leguern, 2002, Nature Genetics.

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

A. Kochański, I. Hausmanowa-Petrusewicz, L. Pedrola, 2006, Journal of the Neurological Sciences.

Mutations in GDAP1

C. van Broeckhoven, F. Palau, V. Timmerman, 2002, Neurology.

Mutations in GDAP1: Autosomal recessive CMT with demyelination and axonopathy

C. van Broeckhoven, F. Palau, V. Timmerman, 2002 .

De Novo Assembly and Functional Annotation of the Olive (Olea europaea) Transcriptome

J. Rodriguez, D. Pisano, A. Muñoz-Mérida, 2013, DNA research : an international journal for rapid publication of reports on genes and genomes.

The Transcriptome Analysis of Strongyloides stercoralis L3i Larvae Reveals Targets for Intervention in a Neglected Disease

S. Ranganathan, J. Forment, A. Marcilla, 2012, PLoS neglected tropical diseases.

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

E. Aller, J. Millán, J. Cervera, 2018, PloS one.

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

Antonio Marco, I. Marín, L. Pedrola, 2003, Molecular biology and evolution.

High-Throughput Sequencing of RNA Silencing-Associated Small RNAs in Olive (Olea europaea L.)

C. Llave, Livia Donaire, L. Pedrola, 2011, PloS one.

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

S. Ranganathan, J. Forment, A. Marcilla, 2013, Journal of proteomics.

Non-invasive prediction of NAFLD severity: a comprehensive, independent validation of previously postulated serum microRNA biomarkers

J. Castell, L. Pedrola, G. Quintás, 2018, Scientific Reports.

Precision medicine in relapsed or refractory pediatric solid tumors: a collaborative Spanish initiative

C. Esquembre, A. Cañete, P. Gargallo, 2019, Translational Medicine Communications.

[The new challenge in oncology: Next-generation sequencing and its application in precision medicine].

J. Millán, J. Cervera, A. Cañete, 2016, Anales de pediatria.

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

Xingyao Wu, M. Shy, L. Pedrola, 2005, Human molecular genetics.

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

J. Lupski, J. Millán, F. Palau, 2005, Journal of Medical Genetics.

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

F. Martínez, L. Pedrola, I. Pascual-Camps, 2019, Ophthalmic genetics.

miRNAs and Genes Involved in the Interplay between Ocular Hypertension and Primary Open-Angle Glaucoma. Oxidative Stress, Inflammation, and Apoptosis Networks

J. O'connor, M. Pinazo-Durán, L. Pedrola, 2021, Journal of clinical medicine.

Microbial Diversity in the Midguts of Field and Lab-Reared Populations of the European Corn Borer Ostrinia nubilalis

A. Moya, J. Urchueguía, J. Peretó, 2011, PloS one.

Clinical Utility of a Next-Generation Sequencing Panel for Acute Myeloid Leukemia Diagnostics.

E. Barragán, J. Cervera, M. Sanz, 2019, The Journal of molecular diagnostics : JMD.

Apparent Radiological Improvement in an Infant With Labrune Syndrome Treated With Bevacizumab.

Y. Crow, L. Pedrola, F. Martínez-Castellano, 2020, Pediatric neurology.

Prognostic impact of gene mutations in myelodysplastic syndromes with ring sideroblasts

M. Tormo, J. Cervera, M. Sanz, 2017, Blood Cancer Journal.

[The new challenge in oncology: Next-generation sequencing and its application in precision medicine].

L. Pedrola, I. Calabria, D. Sánchez-Izquierdo, 2016 .

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

M. Tormo, J. Cervera, M. Sanz, 2017, Leukemia & lymphoma.