Publications by authors named "Isabel Fineza"

Claim this Profile
P
Prevalence and Classification of Pediatric Neuromuscular Disorders in the Central Region of Portugal.
Rita Machado, Carmen Costa, Isabel Fineza, Joana Afonso Ribeiro

J Child Neurol· June 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
R
Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies.
Sofia Barbosa-Gouveia, Maria Eugenia Vázquez-Mosquera, Emiliano González-Vioque, Álvaro Hermida-Ameijeiras, Paula Sánchez-Pintos, Isabel Fineza

J Clin Med· May 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
GNAO1 mutation presenting as dyskinetic cerebral palsy.
Maria João Malaquias, Isabel Fineza, Leal Loureiro, Luís Cardoso, Isabel Alonso

Neurol Sci· October 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A Bizarre Gait as a Result of Overlapping Functional Disorder With Coffin-Lowry Syndrome.
Ana Brás, Alexandra Pedruco, Sofia Maia, Isabel Fineza, Ana Morgadinho

Mov Disord Clin Pract· July 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
L
LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin-α2 variome and its related phenotypes.
Jorge Oliveira, Angela Gruber, Márcio Cardoso, Ricardo Taipa, Isabel Fineza

Hum Mutat· October 2018

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
Screening for Pompe disease in a Portuguese high risk population.
Vânia Almeida, Isabel Conceição, Isabel Fineza, Teresa Coelho, Fernando Silveira

Neuromuscul Disord· August 2017

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
B
Bilateral Thalamic Lesions in Acute Necrotizing Encephalopathy Due to H1N1 Infection.
Rui Araújo, Paula Gouveia, Isabel Fineza

Pediatr Neurol· December 2016

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
Type 1 diabetes and GAD65 limbic encephalitis: a case report of a 10-year-old girl.
Ema Grilo, Joana Pinto, Joana Serra Caetano, Helena Pereira, Patrícia Cardoso, Isabel Fineza

J Pediatr Endocrinol Metab· August 2016

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
N
New splicing mutation in the choline kinase beta (CHKB) gene causing a muscular dystrophy detected by whole-exome sequencing.
Jorge Oliveira, Luís Negrão, Isabel Fineza, Ricardo Taipa, Manuel Melo-Pires

J Hum Genet· June 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
N
New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy.
Rosário Santos, Ana Gonçalves, Jorge Oliveira, Emília Vieira, José Pedro Vieira, Isabel Fineza

J Hum Genet· August 2014

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
[
[Cerebral creatine deficiency syndromes].
Rui Malheiro, Luísa Diogo, Paula Garcia, Isabel Fineza, Guiomar Oliveira

Acta Med Port· March 2014

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A 15-year follow-up of first unprovoked seizures: a prospective study of 200 children.
Cristina Pereira, Cristina Resende, Isabel Fineza, Conceição Robalo

Epileptic Disord· March 2014

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
Autosomal recessive axonal neuropathy with neuromyotonia: a rare entity.
Joana Serra Caetano, Carmen Costa, Jonathan Baets, Madgalena Zimon Phd, Margarida Venâncio Phd, Isabel Fineza

Pediatr Neurol· January 2014

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
R
Reviewing Large LAMA2 Deletions and Duplications in Congenital Muscular Dystrophy Patients.
Jorge Oliveira, Ana Gonçalves, Márcia E Oliveira, Isabel Fineza, Rita C M Pavanello

J Neuromuscul Dis· January 2014

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Pyridoxine-dependent epilepsy due to antiquitin deficiency: achieving a favourable outcome.
Renata Oliveira, Cristina Pereira, Fidjy Rodrigues, Claudia Alfaite, Paula Garcia, Isabel Fineza

Epileptic Disord· December 2013

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
V
Value of brain magnetic resonance imaging in mitochondrial respiratory chain disorders.
Luísa Diogo, Miguel Cordeiro, Paula Garcia, Isabel Fineza, Cristina Moura

Pediatr Neurol· March 2010

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
[
[Neuropsychological evaluation in children with epilepsy: attention and executive functions in temporal lobe epilepsy].
Ana F D Lopes, Mário M R Simões, Conceiçao N Robalo, Isabel Fineza, Olavo B Gonçalves

Rev Neurol· March 2010

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
N
Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy.
Jorge Oliveira, Isabel Soares-Silva, Ivo Fokkema, Ana Gonçalves, Alexandra Cabral, Isabel Fineza

J Hum Genet· August 2008

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
Spinal muscular atrophy--noninvasive ventilatory support in pediatrics.
Mónica Vasconcelos, Isabel Fineza, Miguel Félix, Maria Helena Estêvão

Rev Port Pneumol· February 2006

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis