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Neuromuscular Disorders : NMD|October 28, 2008
A Spanish sporadic case of deafness-dystonia (Mohr-Tranebjaerg) syndrome with a novel mutation in the gene encoding TIMM8a, a component of the mitochondrial protein translocase complexesLuis A Aguirre, Manuel Pérez-Bas, Manuela Villamar, et al.
Human Genetics|December 17, 2002
A novel locus for autosomal dominant nonsyndromic hearing loss (DFNA44) maps to chromosome 3q28-29Silvia Modamio-Høybjør, Miguel Angel Moreno-Pelayo, Angeles Mencía, et al.
American Journal of Medical Genetics. Part A|August 10, 2005
High prevalence of the W24X mutation in the gene encoding connexin-26 (GJB2) in Spanish Romani (gypsies) with autosomal recessive non-syndromic hearing lossAraceli Alvarez, Ignacio del Castillo, Manuela Villamar, et al.
European Journal of Medical Genetics|August 6, 2011
DFNB66 and DFNB67 loci are non allelic and rarely contribute to autosomal recessive nonsyndromic hearing lossMariem Bensaïd, Mounira Hmani-Aifa, Boutheina Hammami, et al.
Frontiers in Pharmacology|March 14, 2022
Meridianins Rescue Cognitive Deficits, Spine Density and Neuroinflammation in the 5xFAD Model of Alzheimer's DiseaseEned Rodríguez-Urgellés, Anna Sancho-Balsells, Wanqi Chen, et al.
Science (New York, N.Y.)|July 2, 2026
Hierarchical sensory processing in zebrafish thalamocortical-like circuitsAnh-Tuan Trinh, Anna Maria Ostenrath, Ignacio Del Castillo-Berges, et al.
Revista De La Facultad De Ciencias Medicas (Cordoba, Argentina)|September 16, 2004
[Genetic study of hearing loss in families from Argentina]Raúl A Reynoso, Silvia Hendl, Marìa E Barteik, et al.
International Journal of Molecular Sciences|July 12, 2025
De Novo Heterozygous <i>GATA3</i> Missense Variant Causes an Unexpected Phenotype of Non-Syndromic Hearing Impairment with Apparently Recessive InheritanceMaría Domínguez-Ruiz, Gema Garrido, Paz Martínez-Beneyto, et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [And] European Academy of Otology and Neurotology|May 4, 2013
Identification of a SNP in a regulatory region of GJB2 associated with idiopathic nonsyndromic autosomal recessive hearing loss in a multicenter studyReinhard Ramsebner, Martin Ludwig, Trevor Lucas, et al.
Plos One|September 17, 2013
A novel splice-site mutation in the GJB2 gene causing mild postlingual hearing impairmentMarta Gandía, Francisco J Del Castillo, Francisco J Rodríguez-Álvarez, et al.
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