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Human Mutation|April 16, 2005
Ancient origin of the CAG expansion causing Huntington disease in a Spanish populationJavier García-Planells, Juan A Burguera, Pilar Solís, et al.Genomics|December 19, 2006
The frataxin-encoding operon of Caenorhabditis elegans shows complex structure and regulationRafael P Vázquez-Manrique, Pilar González-Cabo, Inmaculada Ortiz-Martín, et al.Clinical Genetics|August 12, 2020
Ethical questions concerning newborn genetic screeningMontserrat Esquerda, Francesc Palau, David Lorenzo, et al.Microbiome|February 21, 2018
Gut microbiota trajectory in early life may predict development of celiac diseaseMarta Olivares, Alan W Walker, Amalia Capilla, et al.Pediatric Research|May 7, 2008
A novel delins mutation in the alpha-TTP gene in a family segregating ataxia with isolated vitamin E deficiencyMiguel Fernández-Burriel, Dolores Martínez-Rubio, Vincenzo Lupo, et al.Bioinformatics (Oxford, England)|March 16, 2026
Identification of autosomal and sex chromosome aneuploidies using next generation sequencingNidia Barco-Armengol, Dèlia Yubero, Clara Xiol, et al.Neurotoxicity Research|December 3, 2014
The addiction-related gene ANKK1 in Parkinsonian patients with impulse control disorderJanet Hoenicka, Pedro J García-Ruiz, Guillermo Ponce, et al.Journal of the Neurological Sciences|December 14, 2005
A novel Met116Thr mutation in the GDAP1 gene in a Polish family with the axonal recessive Charcot-Marie-Tooth type 4 diseaseDagmara Kabzińska, Andrzej Kochański, Hanna Drac, et al.Free Radical Biology & Medicine|October 14, 2015
Biomarkers research in neuromuscular disease Charcot-Marie-ToothMarta Seco-Cervera, Jose Santiago Ibañez-Cabellos, Jose Luis Garcia-Gimenez, et al.NPJ Parkinson'S Disease|June 7, 2025
A new LRRK2 variant in a family with Parkinson's disease affects binding to RAB8ALydia Vela-Desojo, Alba Pascual, Victor Montal, et al.Pageof 12