Juan J. Martinez
Alicante, VC 03312, Spain
Last Updated: 09/26/2026
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Found 13 publications
Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder.
Journal: American journal of human genetics
Published: April 05, 2026
Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder.
Journal: American journal of human genetics
Published: July 31, 2024
ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.
Journal: Genome medicine
Published: February 08, 2023
Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization.
Journal: Neurology
Published: May 01, 2021
Expanding the clinical and genetic spectrum of PCYT2-related disorders.
Journal: Brain : a journal of neurology
Published: September 05, 2020
A novel hypomorphic splice variant in EIF2B5 gene is associated with mild ovarioleukodystrophy.
Journal: Annals of clinical and translational neurology
Published: June 05, 2020
The Neotropical species of Clistopyga (Hymenoptera, Ichneumonidae, Pimplinae). Part V: the C. diazi species group, with the description of three new species.
Journal: Zootaxa
Published: August 28, 2019
Tauroursodeoxycholic bile acid arrests axonal degeneration by inhibiting the unfolded protein response in X-linked adrenoleukodystrophy.
Journal: Acta neuropathologica
Published: April 12, 2016
(Poly)phenolic fingerprint and chemometric analysis of white (Morus alba L.) and black (Morus nigra L.) mulberry leaves by using a non-targeted UHPLC-MS approach.
Journal: Food chemistry
Published: September 05, 2015
Fatty acids composition of Spanish black (Morus nigra L.) and white (Morus alba L.) mulberries.
Journal: Food chemistry
Published: February 18, 2015
Pioglitazone halts axonal degeneration in a mouse model of X-linked adrenoleukodystrophy.
Journal: Brain : a journal of neurology
Published: June 25, 2013
Impaired mitochondrial oxidative phosphorylation in the peroxisomal disease X-linked adrenoleukodystrophy.
Journal: Human molecular genetics
Published: April 23, 2013
Last Updated: 09/26/2026