I. Fineza

发表

GNAO1 mutation presenting as dyskinetic cerebral palsy

I. Alonso, M. Magalhães, L. Loureiro, 2019, Neurological Sciences.

Neuroimaging in Inborn Errors of Metabolism

L. Diogo, P. Garcia, C. Casimiro, 2012 .

Value of brain magnetic resonance imaging in mitochondrial respiratory chain disorders.

L. Diogo, P. Garcia, C. Oliveira, 2010, Pediatric neurology.

Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies

M. D. de Castro, P. Sánchez-Pintos, M. Couce, 2022, Journal of clinical medicine.

A Portuguese case of Fukuyama congenital muscular dystrophy caused by a multi-exonic duplication in the fukutin gene

E. Bronze-da-Rocha, A. Gonçalves, O. Rebelo, 2013, Neuromuscular Disorders.

Reviewing Large LAMA2 Deletions and Duplications in Congenital Muscular Dystrophy Patients.

Jorge Oliveira, M. Sousa, M. Vainzof, 2014, Journal of neuromuscular diseases.

Novel L2HGDH mutations in 21 patients with L‐2‐hydroxyglutaric aciduria of Portuguese origin

A. Amorim, F. Santorelli, M. L. Cardoso, 2005, Human mutation.

Pyridoxine-dependent epilepsy due to antiquitin deficiency: achieving a favourable outcome

L. Diogo, P. Garcia, E. Struys, 2013, Epileptic disorders : international epilepsy journal with videotape.

LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients

S. Pascual-Pascual, C. Barbot, T. Coelho, 2008, Clinical genetics.

New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy

Jorge Oliveira, T. Evangelista, J. P. Vieira, 2014, Journal of Human Genetics.

New splicing mutation in the choline kinase beta (CHKB) gene causing a muscular dystrophy detected by whole-exome sequencing

M. Sousa, A. Fortuna, C. Egas, 2015, Journal of Human Genetics.

LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin‐α2 variome and its related phenotypes

J. D. den Dunnen, M. Sousa, T. Winder, 2018, Human mutation.

Type 1 diabetes and GAD65 limbic encephalitis: a case report of a 10-year-old girl

J. Caetano, I. Dinis, I. Fineza, 2016, Journal of pediatric endocrinology & metabolism : JPEM.

Recessive ataxia with ocular apraxia: review of 22 Portuguese patients.

P. Coutinho, J. Barros, J. Sequeiros, 2001, Archives of neurology.

Recessive Ataxia With Ocular Apraxia

P. Coutinho, J. Sequeiros, C. Barbot, 2001 .

l-2-Hydroxyglutaric aciduria: clinical, biochemical and magnetic resonance imaging in six Portuguese pediatric patients

M. L. Cardoso, L. Diogo, C. Barbot, 1997, Brain and Development.

Macrocephaly as the presenting feature ofl-2-hydroxyglutaric aciduria in a 5-month-old boy

M. L. Cardoso, L. Diogo, L. Vilarinho, 1996, Journal of Inherited Metabolic Disease.

Screening for Pompe disease in a Portuguese high risk population

T. Evangelista, I. Conceição, J. P. Vieira, 2017, Neuromuscular Disorders.

Autosomal recessive axonal neuropathy with neuromyotonia: a rare entity.

J. Baets, L. Negrão, J. Caetano, 2014, Pediatric neurology.

[Neuropsychological evaluation in children with epilepsy: attention and executive functions in temporal lobe epilepsy].

M. Simões, A. Lopes, I. Fineza, 2010, Revista de neurología (Ed. impresa).

Autosomal recessive spastic ataxia of Charlevoix-Saguenay in a Portuguese child caused by a novel SACS mutation

I. Alonso, J. Sequeiros, L. Negrão, 2017 .

A Bizarre Gait as a Result of Overlapping Functional Disorder With Coffin–Lowry Syndrome

S. Maia, A. Morgadinho, Conceicao Bento, 2019, Movement disorders clinical practice.

A 15-year follow-up of first unprovoked seizures: a prospective study of 200 children.

C. Resende, C. Robalo, I. Fineza, 2014, Epileptic disorders : international epilepsy journal with videotape.

Prevalence and Classification of Pediatric Neuromuscular Disorders in the Central Region of Portugal.

I. Fineza, Joana Afonso Ribeiro, Rita Machado, 2024, Journal of child neurology.