Search Results - "García-Ribes A"

Genética: raras y no tan raras….

Authors: García Ribes, Miguel¹

Source: AMF: Actualización en Medicina de Familia. 2012, Vol. 8 Issue 3, p135-141. 7p.

Suspected Herpes Encephalitis and Opercular Syndrome in Childhood

Authors: García-Ribes, Ainhoa Martínez-González, María Jesús Prats-Viñas, Jose María

Source: Pediatric Neurology. Mar2007, Vol. 36 Issue 3, p202-206. 5p.

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.

Molecular characterization of congenital myasthenic syndromes in Spain.

Authors: Natera-de Benito, D. Töpf, A. Vilchez, J.J. et al.

Source: Neuromuscular Disorders. Dec2017, Vol. 27 Issue 12, p1087-1098. 12p.

Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations.

Authors: Natera-de Benito, D. Bestué, M. Vilchez, J.J. et al.

Source: Neuromuscular Disorders. Feb2016, Vol. 26 Issue 2, p153-159. 7p.

National rare diseases registry in Spain: pilot study of the Spanish Rare Diseases Registries Research Network (SpainRDR)

Authors: Alonso, Verónica Abaitua, Ignacio Zurriaga, Óscar et al.

Source: Orphanet Journal of Rare Diseases. 2014, Vol. 9 Issue 1, p1-2. 2p. 1 Graph, 1 Map.

Facial Hypomimia, Oculomotor Paralysis, and Ataxia Associated With GAD65 and Glycine Receptor Antibodies in a Child.

Authors: Ortiz de Zarate Caballero Z Elosegi Castellanos A García Ribes A et al.

Source: Neurology [Neurology] 2024 Dec 10; Vol. 103 (11), pp. e210065. Date of Electronic Publication: 2024 Nov 12.

Publication Type: Journal Article

Journal Info: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0401060 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1526-632X (Electronic) Linking ISSN: 00283878 NLM ISO Abbreviation: Neurology Subsets: MEDLINE; In Process

CDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain.

Authors: Maortua H Martínez-Bouzas C Calvo MT et al.

Source: BMC medical genetics [BMC Med Genet] 2012 Aug 06; Vol. 13, pp. 68. Date of Electronic Publication: 2012 Aug 06.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350 (Electronic) Linking ISSN: 14712350 NLM ISO Abbreviation: BMC Med Genet Subsets: MEDLINE

MECP2 gene study in a large cohort: testing of 240 female patients and 861 healthy controls (519 females and 342 males).

Authors: Maortua H Martínez-Bouzas C García-Ribes A et al.

Source: The Journal of molecular diagnostics : JMD [J Mol Diagn] 2013 Sep; Vol. 15 (5), pp. 723-9. Date of Electronic Publication: 2013 Jun 26.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 100893612 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1943-7811 (Electronic) Linking ISSN: 15251578 NLM ISO Abbreviation: J Mol Diagn Subsets: MEDLINE

A child with mild X-linked intellectual disability and a microduplication at Xp22.12 including RPS6KA3.

Authors: Tejada MI Martínez-Bouzas C García-Ribes A et al.

Source: Pediatrics [Pediatrics] 2011 Oct; Vol. 128 (4), pp. e1029-33. Date of Electronic Publication: 2011 Sep 19.

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: American Academy of Pediatrics Country of Publication: United States NLM ID: 0376422 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-4275 (Electronic) Linking ISSN: 00314005 NLM ISO Abbreviation: Pediatrics Subsets: MEDLINE

[Adult-onset metabolic diseases].

Transliterated Title: Enfermedades metabólicas de aparición en la edad adulta.

Authors: García Ribes A Martínez González M García Cazorla A

Source: Anales del sistema sanitario de Navarra [An Sist Sanit Navar] 2008; Vol. 31 Suppl 2, pp. 75-89.

Publication Type: English Abstract; Journal Article

Journal Info: Publisher: Gobierno de Navarra, Departamento de Salud Country of Publication: Spain NLM ID: 9710381 Publication Model: Print Cited Medium: Print ISSN: 1137-6627 (Print) Linking ISSN: 11376627 NLM ISO Abbreviation: An Sist Sanit Navar Subsets: MEDLINE

[Effectiveness and safety of levetiracetam in 133 children with medication resistant epileptic seizures].

Transliterated Title: Eficacia y tolerabilidad del levetiracetam en 133 niños con crisis epilépticas farmacorresistentes.

Authors: Herranz JL Prats-Viñas JM Campistol J et al.

Source: Revista de neurologia [Rev Neurol] 2006 Oct 1-15; Vol. 43 (7), pp. 393-7.

Publication Type: Journal Article; Multicenter Study

Journal Info: Publisher: IMR Press Country of Publication: Singapore NLM ID: 7706841 Publication Model: Print Cited Medium: Print ISSN: 0210-0010 (Print) Linking ISSN: 02100010 NLM ISO Abbreviation: Rev Neurol Subsets: MEDLINE

[Acute onset ataxia in infancy: its aetiology, treatment and follow-up].

Transliterated Title: Ataxia de aparición aguda en la infancia: etiología, tratamiento y seguimiento.

Authors: Martínez-González MJ Martínez-González S García-Ribes A et al.

Source: Revista de neurologia [Rev Neurol] 2006 Mar 16-31; Vol. 42 (6), pp. 321-4.

Publication Type: English Abstract; Journal Article

Journal Info: Publisher: IMR Press Country of Publication: Singapore NLM ID: 7706841 Publication Model: Print Cited Medium: Print ISSN: 0210-0010 (Print) Linking ISSN: 02100010 NLM ISO Abbreviation: Rev Neurol Subsets: MEDLINE

[Epilepsy in a school-aged child with refractory crises worsening despite medication].

Transliterated Title: Epilepsia en edad escolar con crisis intratables que empeoran a pesar del tratamiento farmacológico.

Authors: Prats Viñas JM Martínez González MJ García Ribes A et al.

Source: Anales de pediatria (Barcelona, Spain : 2003) [An Pediatr (Barc)] 2005 Jun; Vol. 62 (6), pp. 605-6.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Elsevier España Country of Publication: Spain NLM ID: 101162596 Publication Model: Print Cited Medium: Print ISSN: 1695-4033 (Print) Linking ISSN: 16954033 NLM ISO Abbreviation: An Pediatr (Barc) Subsets: MEDLINE

[Apraxia of gait: an acquired sequela with a poor prognosis].

Transliterated Title: Apraxia de la marcha: una secuela adquirida de evolución desfavorable.

Authors: Prats-Viñas JM Martínez-González MJ García-Ribes A et al.

Source: Revista de neurologia [Rev Neurol] 2005 Mar 1-15; Vol. 40 (5), pp. 279-81.

Publication Type: Case Reports; English Abstract; Journal Article

Journal Info: Publisher: IMR Press Country of Publication: Singapore NLM ID: 7706841 Publication Model: Print Cited Medium: Print ISSN: 0210-0010 (Print) Linking ISSN: 02100010 NLM ISO Abbreviation: Rev Neurol Subsets: MEDLINE

[Idiopathic catastrophic epileptic encephalopathy: an untreatable convulsive malady in infancy].

Transliterated Title: Encefalopatía epiléptica catastrófica idiopática: una forma intratable de estado de mal convulsivo en la infancia.

Authors: Prats-Viñas JM Pilar-Orive J García-Pérez R et al.

Source: Revista de neurologia [Rev Neurol] 2004 May 16-31; Vol. 38 (10), pp. 931-4.

Publication Type: Case Reports; English Abstract; Journal Article

Journal Info: Publisher: IMR Press Country of Publication: Singapore NLM ID: 7706841 Publication Model: Print Cited Medium: Print ISSN: 0210-0010 (Print) Linking ISSN: 02100010 NLM ISO Abbreviation: Rev Neurol Subsets: MEDLINE

[Idiopathic epilepsies: some therapeutic aspects].

Transliterated Title: Epilepsias idiopáticas: aspectos terapéuticos.

Authors: Campos-Castelló J Prats Viñas JM García-Ribes A

Source: Revista de neurologia [Rev Neurol] 2004 Jan 16-31; Vol. 38 (2), pp. 180-4.

Publication Type: English Abstract; Journal Article; Review

Journal Info: Publisher: IMR Press Country of Publication: Singapore NLM ID: 7706841 Publication Model: Print Cited Medium: Print ISSN: 0210-0010 (Print) Linking ISSN: 02100010 NLM ISO Abbreviation: Rev Neurol Subsets: MEDLINE

[Factors related to the short term remission of tics in children with Tourette syndrome].

Transliterated Title: Factores que influyen en la remisión a corto plazo de los tics en niños con síndrome de Gilles de la Tourette.

Authors: García-Ribes A Martí-Carrera I Martínez-González MJ et al.

Source: Revista de neurologia [Rev Neurol] 2003 Nov 16-30; Vol. 37 (10), pp. 901-3.

Publication Type: English Abstract; Journal Article

Journal Info: Publisher: IMR Press Country of Publication: Singapore NLM ID: 7706841 Publication Model: Print Cited Medium: Print ISSN: 0210-0010 (Print) Linking ISSN: 02100010 NLM ISO Abbreviation: Rev Neurol Subsets: MEDLINE

[Global transitory amnesia: an adult disorder also present in childhood].

Transliterated Title: Amnesia global transitoria: una enfermedad del adulto presente en la infancia.

Authors: García Ribes A Martí Carrera I Martínez González MJ et al.

Source: Anales de pediatria (Barcelona, Spain : 2003) [An Pediatr (Barc)] 2003 Feb; Vol. 58 (2), pp. 195-6.

Publication Type: Case Reports; Letter

Journal Info: Publisher: Elsevier España Country of Publication: Spain NLM ID: 101162596 Publication Model: Print Cited Medium: Print ISSN: 1695-4033 (Print) Linking ISSN: 16954033 NLM ISO Abbreviation: An Pediatr (Barc) Subsets: MEDLINE

[Disturbances of neuroblast migration and amniocentesis. An under diagnosed problem?].

Transliterated Title: Trastornos de la migración neuroblástica y amniocentesis. Un problema infradiagnosticado?

Authors: Prats Viñas JM Garaizar C Martínez González MJ et al.

Source: Revista de neurologia [Rev Neurol] 2003 Jan 1-15; Vol. 36 (1), pp. 33-6.

Publication Type: English Abstract; Journal Article

Journal Info: Publisher: IMR Press Country of Publication: Singapore NLM ID: 7706841 Publication Model: Print Cited Medium: Internet ISSN: 1576-6578 (Electronic) Linking ISSN: 02100010 NLM ISO Abbreviation: Rev Neurol Subsets: MEDLINE