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Prevalence and Classification of Pediatric Neuromuscular Disorders in the Central Region of Portugal.
Machado R, Costa C, Fineza I, Ribeiro JA
J Child Neurol, 39(7-8):233-240, 01 Jun 2024
Cited by: 0 articles | PMID: 39090974
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Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies.
Barbosa-Gouveia S, Vázquez-Mosquera ME, González-Vioque E, Hermida-Ameijeiras Á, Sánchez-Pintos P, de Castro MJ, León SR, Gil-Fournier B, Domínguez-González C, Camacho Salas A, Negrão L, Fineza I, Laranjeira F, Couce ML
J Clin Med, 11(10):2750, 12 May 2022
Cited by: 3 articles | PMID: 35628876 | PMCID: PMC9143479
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This article is in the Europe PMC Open access subset. Refer to the copyright information in the article for licensing details.
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A Bizarre Gait as a Result of Overlapping Functional Disorder With Coffin-Lowry Syndrome.
Brás A, Pedruco A, Maia S, Fineza I, Morgadinho A, Bento C
Mov Disord Clin Pract, 6(6):491-493, 22 May 2019
Cited by: 0 articles | PMID: 31392253 | PMCID: PMC6660236
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GNAO1 mutation presenting as dyskinetic cerebral palsy.
Malaquias MJ, Fineza I, Loureiro L, Cardoso L, Alonso I, Magalhães M
Neurol Sci, 40(10):2213-2216, 12 Jun 2019
Cited by: 12 articles | PMID: 31190250
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LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin-α2 variome and its related phenotypes.
Oliveira J, Gruber A, Cardoso M, Taipa R, Fineza I, Gonçalves A, Laner A, Winder TL, Schroeder J, Rath J, Oliveira ME, Vieira E, Sousa AP, Vieira JP, Lourenço T, Almendra L, Negrão L, Santos M, Melo-Pires M, [...] Sousa M
Hum Mutat, 39(10):1314-1337, 10 Aug 2018
Cited by: 49 articles | PMID: 30055037
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Screening for Pompe disease in a Portuguese high risk population.
Almeida V, Conceição I, Fineza I, Coelho T, Silveira F, Santos M, Valverde A, Geraldo A, Maré R, Aguiar TC, Mendonça C, Martins J, Medeiros L, Barroso C, Vieira JP, Moreno T, Negrão L, Dias MS, Lacerda L, Evangelista T
Neuromuscul Disord, 27(8):777-781, 29 Mar 2017
Cited by: 8 articles | PMID: 28554557
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Bilateral Thalamic Lesions in Acute Necrotizing Encephalopathy Due to H1N1 Infection.
Araújo R, Gouveia P, Fineza I
Pediatr Neurol, 65:96-97, 20 Aug 2016
Cited by: 3 articles | PMID: 27647154
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Type 1 diabetes and GAD65 limbic encephalitis: a case report of a 10-year-old girl.
Grilo E, Pinto J, Caetano JS, Pereira H, Cardoso P, Cardoso R, Dinis I, Pereira C, Fineza I, Mirante A
J Pediatr Endocrinol Metab, 29(8):985-990, 01 Aug 2016
Cited by: 2 articles | PMID: 27115322
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New splicing mutation in the choline kinase beta (CHKB) gene causing a muscular dystrophy detected by whole-exome sequencing.
Oliveira J, Negrão L, Fineza I, Taipa R, Melo-Pires M, Fortuna AM, Gonçalves AR, Froufe H, Egas C, Santos R, Sousa M
J Hum Genet, 60(6):305-312, 05 Mar 2015
Cited by: 22 articles | PMID: 25740612
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New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy.
Santos R, Gonçalves A, Oliveira J, Vieira E, Vieira JP, Evangelista T, Moreno T, Santos M, Fineza I, Bronze-da-Rocha E
J Hum Genet, 59(8):454-464, 10 Jul 2014
Cited by: 23 articles | PMID: 25007885
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A 15-year follow-up of first unprovoked seizures: a prospective study of 200 children.
Pereira C, Resende C, Fineza I, Robalo C
Epileptic Disord, 16(1):50-55, 01 Mar 2014
Cited by: 8 articles | PMID: 24691297
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Reviewing Large LAMA2 Deletions and Duplications in Congenital Muscular Dystrophy Patients.
Oliveira J, Gonçalves A, Oliveira ME, Fineza I, Pavanello RC, Vainzof M, Bronze-da-Rocha E, Santos R, Sousa M
J Neuromuscul Dis, 1(2):169-179, 01 Jan 2014
Cited by: 7 articles | PMID: 27858771
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Autosomal recessive axonal neuropathy with neuromyotonia: a rare entity.
Caetano JS, Costa C, Baets J, Zimon Phd M, Venâncio Phd M, Saraiva Phd J, Negrão L, Fineza I
Pediatr Neurol, 50(1):104-107, 13 Oct 2013
Cited by: 12 articles | PMID: 24131582
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Pyridoxine-dependent epilepsy due to antiquitin deficiency: achieving a favourable outcome.
Oliveira R, Pereira C, Rodrigues F, Alfaite C, Garcia P, Robalo C, Fineza I, Gonçalves O, Struys E, Salomons G, Jakobs C, Diogo L
Epileptic Disord, 15(4):400-406, 01 Dec 2013
Cited by: 11 articles | PMID: 24184718
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A Portuguese case of Fukuyama congenital muscular dystrophy caused by a multi-exonic duplication in the fukutin gene.
Costa C, Oliveira J, Gonçalves A, Santos R, Bronze-da-Rocha E, Rebelo O, Pais RP, Fineza I
Neuromuscul Disord, 23(7):557-561, 11 Apr 2013
Cited by: 2 articles | PMID: 23582336
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[Cerebral creatine deficiency syndromes].
Malheiro R, Diogo L, Garcia P, Fineza I, Oliveira G
Acta Med Port, 25(6):389-398, 01 Nov 2012
Cited by: 2 articles | PMID: 23534590
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Value of brain magnetic resonance imaging in mitochondrial respiratory chain disorders.
Diogo L, Cordeiro M, Garcia P, Fineza I, Moura C, Oliveira CR, Veiga M, Garcia T, Grazina M
Pediatr Neurol, 42(3):196-200, 01 Mar 2010
Cited by: 8 articles | PMID: 20159429
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[Neuropsychological evaluation in children with epilepsy: attention and executive functions in temporal lobe epilepsy].
Lopes AF, Simões MM, Robalo CN, Fineza I, Gonçalves OB
Rev Neurol, 50(5):265-272, 01 Mar 2010
Cited by: 5 articles | PMID: 20217644
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LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients.
Oliveira J, Santos R, Soares-Silva I, Jorge P, Vieira E, Oliveira ME, Moreira A, Coelho T, Ferreira JC, Fonseca MJ, Barbosa C, Prats J, Aríztegui ML, Martins ML, Moreno T, Heinimann K, Barbot C, Pascual-Pascual SI, Cabral A, [...] Bronze-da-Rocha E
Clin Genet, 74(6):502-512, 11 Jun 2008
Cited by: 37 articles | PMID: 18700894
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Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy.
Oliveira J, Soares-Silva I, Fokkema I, Gonçalves A, Cabral A, Diogo L, Galán L, Guimarães A, Fineza I, den Dunnen JT, Santos R
J Hum Genet, 53(6):565-572, 11 Mar 2008
Cited by: 9 articles | PMID: 18330676
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Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese origin.
Vilarinho L, Cardoso ML, Gaspar P, Barbot C, Azevedo L, Diogo L, Santos M, Carrilho I, Fineza I, Kok F, Chorão R, Alegria P, Martins E, Teixeira J, Cabral Fernandes H, Verhoeven NM, Salomons GS, Santorelli FM, Cabral P, [...] Jakobs C
Hum Mutat, 26(4):395-396, 01 Oct 2005
Cited by: 28 articles | PMID: 16134148
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Spinal muscular atrophy--noninvasive ventilatory support in pediatrics.
Vasconcelos M, Fineza I, Félix M, Estêvão MH
Rev Port Pneumol, 11(5):443-455, 01 Sep 2005
Cited by: 7 articles | PMID: 16288344
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Recessive ataxia with ocular apraxia: review of 22 Portuguese patients.
Barbot C, Coutinho P, Chorão R, Ferreira C, Barros J, Fineza I, Dias K, Monteiro J, Guimarães A, Mendonça P, do Céu Moreira M, Sequeiros J
Arch Neurol, 58(2):201-205, 01 Feb 2001
Cited by: 48 articles | PMID: 11176957
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L-2-Hydroxyglutaric aciduria: clinical, biochemical and magnetic resonance imaging in six Portuguese pediatric patients.
Barbot C, Fineza I, Diogo L, Maia M, Melo J, Guimarães A, Pires MM, Cardoso ML, Vilarinho L
Brain Dev, 19(4):268-273, 01 Jun 1997
Cited by: 44 articles | PMID: 9187477
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Macrocephaly as the presenting feature of L-2-hydroxyglutaric aciduria in a 5-month-old boy.
Diogo L, Fineza I, Canha J, Borges L, Cardoso ML, Vilarinho L
J Inherit Metab Dis, 19(3):369-370, 01 Jan 1996
Cited by: 7 articles | PMID: 8803783
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