Search Results - "García-Ribes A"

Infantile Cataracts Associated with a Homozygous Missense MSMO1 Variant—Case Report and Literature Review.

Authors: Hassas, Nick Drackley, Andy Ivanisevic, Jelena et al.

Source: Reports (MDPI AG). Mar2026, Vol. 9 Issue 1, p45. 5p.

Biotin Induces Inactive Chromosome X Reactivation and Corrects Physiopathological Alterations in Beta-Propeller-Protein-Associated Neurodegeneration.

Authors: Reche-López, Diana Romero-González, Ana Álvarez-Córdoba, Mónica et al.

Source: International Journal of Molecular Sciences. Feb2025, Vol. 26 Issue 3, p1315. 37p.

Preimplantation genetic testing as a means of preventing hereditary congenital myasthenic syndrome caused by RAPSN.

Authors: Zhang, Zhiping Zhang, Xueluo Xue, Huiqin et al.

Source: Molecular Genetics & Genomic Medicine. Mar2024, Vol. 12 Issue 3, p1-13. 13p.

Whole genome sequencing identifies a duplicated region encompassing Xq13.2q13.3 in a large Iranian family with intellectual disability.

Authors: Mehvari, Sepideh Larti, Farzaneh Hu, Hao et al.

Source: Molecular Genetics & Genomic Medicine. Oct2020, Vol. 8 Issue 10, p1-7. 7p.

Prolonged linezolid therapy induces progressive mitochondrial dysfunction in human peripheral blood mononuclear cells.

Authors: Martínez-Guitián M Cajade-Pascual F Castro-Fernández DC et al.

Source: Journal of translational medicine [J Transl Med] 2026 Jun 09; Vol. 24 (1). Date of Electronic Publication: 2026 Jun 09.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101190741 Publication Model: Electronic Cited Medium: Internet ISSN: 1479-5876 (Electronic) Linking ISSN: 14795876 NLM ISO Abbreviation: J Transl Med Subsets: MEDLINE

Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy.

Authors: Martínez-Rubio, Dolores Hinarejos, Isabel Argente-Escrig, Herminia et al.

Source: International Journal of Molecular Sciences. Nov2023, Vol. 24 Issue 22, p16400. 20p.

Early acute cerebellar ataxia after meningococcal B vaccine: a case report of a 7-month-old infant and a review of the literature.

Authors: Monzani, Nicola Adriano Corsello, Antonio Tagliabue, Claudia et al.

Source: Italian Journal of Pediatrics. 6/5/2023, Vol. 49 Issue 1, p1-9. 9p.

Evidence Synthesis of Gene Therapy and Gene Editing from Different Disorders—Implications for Individuals with Rett Syndrome: A Systematic Review.

Authors: Singh, Jatinder Goodman-Vincent, Ella Santosh, Paramala

Source: International Journal of Molecular Sciences. May2023, Vol. 24 Issue 10, p9023. 37p.

Delayed Diagnosis of Congenital Myasthenic Syndromes Erroneously Interpreted as Mitochondrial Myopathies.

Authors: Muñoz-García, Mariana I. Guerrero-Molina, María Paz de Fuenmayor-Fernández de la Hoz, Carlos Pablo et al.

Source: Journal of Clinical Medicine. May2023, Vol. 12 Issue 9, p3308. 9p.

Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias.

Authors: Martínez-Rubio, Dolores Hinarejos, Isabel Sancho, Paula et al.

Source: International Journal of Molecular Sciences. Oct2022, Vol. 23 Issue 19, p11847. 26p.

Diverse myopathological features in the congenital myasthenia syndrome with GFPT1 mutation.

Authors: Jiang, Kaiyan Zheng, Yilei Lin, Jing et al.

Source: Brain & Behavior. Feb2022, Vol. 12 Issue 2, p1-12. 12p.

Education and information needs for physicians about rare diseases in Spain.

Authors: Ramalle-Gómara, Enrique Domínguez-Garrido, Elena Gómez-Eguílaz, María et al.

Source: Orphanet Journal of Rare Diseases. 1/17/2020, Vol. 15 Issue 1, p1-7. 7p.

Italian recommendations for diagnosis and management of congenital myasthenic syndromes.

Authors: Maggi, Lorenzo Bernasconi, Pia D'Amico, Adele et al.

Source: Neurological Sciences. Mar2019, Vol. 40 Issue 3, p457-468. 12p. 1 Diagram, 4 Charts.

Subjects: Congenital myasthenic syndromes, Genetic disorders, Neuromuscular diseases, Myoneural junction, Myasthenia gravis, Differential diagnosis, Myasthenia gravis treatment, Health planning, Disease management

Geographic Terms: Italy

Abstracts of the 52nd Annual Conference of the Italian Society of Neurology.

Source: Neurological Sciences. 2022 Suppl, Vol. 43, p1-530. 530p.

Subjects: Cataplexy, Polysomnography, Non-REM sleep, Myasthenia gravis, Sleep latency, Chronic inflammatory demyelinating polyradiculoneuropathy, Neurology, Medical sciences

A non-syndromic intellectual disability associated with a de novo microdeletion at 7q and 18p, microduplication at Xp, and 18q partial trisomy detected using chromosomal microarray analysis approach.

Authors: Pinto, Irene Plaza Minasi, Lysa Bernardes da Cruz, Alex Silva et al.

Source: Molecular Cytogenetics (17558166). 2014, Vol. 7 Issue 1, p3-16. 14p.

75th Congress of the Italian Society of Pediatrics: Bologna, Italy. 29 May - 1 June 2019.

Source: Italian Journal of Pediatrics. 12/18/2019 Supplement 2, Vol. 45, p1-64. 64p.

Author Index.

Source: European journal of neurology May2020 Supplement S1; Vol. 27.

Journal Info: Publisher: Wiley-Blackwell ISSN: 1351-5101

Coffin-Lowry syndrome: a systematic review of RPS6KA3 confirmed cases and implications for diagnosis and counseling.

Authors: Maity S Montion M Boothe D et al.

Source: Frontiers in genetics [Front Genet] 2026 Jan 12; Vol. 16, pp. 1715229. Date of Electronic Publication: 2026 Jan 12 (Print Publication: 2025).

Publication Type: Journal Article; Systematic Review

Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE

Circulating 4-F 4t -Neuroprostane and 10-F 4t -Neuroprostane Are Related to MECP2 Gene Mutation and Natural History in Rett Syndrome.

Authors: Signorini, Cinzia Leoncini, Silvia Durand, Thierry et al.

Source: International Journal of Molecular Sciences. Apr2021, Vol. 22 Issue 8, p4240. 1p.

Etiologies of Acute Ataxia in Children: A Systematic Review of 1167 Subjects.

Authors: Jones C Amendum P DelVecchio M et al.

Source: Journal of child neurology [J Child Neurol] 2026 Aug; Vol. 41 (7), pp. 933-938. Date of Electronic Publication: 2025 Dec 01.

Publication Type: Systematic Review; Journal Article; Meta-Analysis

Journal Info: Publisher: Sage Country of Publication: United States NLM ID: 8606714 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1708-8283 (Electronic) Linking ISSN: 08830738 NLM ISO Abbreviation: J Child Neurol Subsets: MEDLINE