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

Journal of human genetics, 2014-08, Vol.59 (8), p.454-464

2014

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

Journal of human genetics, 2015-06, Vol.60 (6), p.305-312

2015

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Bilateral thalamic lesions in acute necrotizing encephalopathy due to H1N1 infection

Pediatric neurology, 2016-12, Vol.65, p.96-97

2016

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Autosomal Recessive Axonal Neuropathy With Neuromyotonia: A Rare Entity

Pediatric neurology, 2014, Vol.50 (1), p.104-107

2014

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

Journal of child neurology, 2024-06, Vol.39 (7-8), p.233-240

2024

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Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy

Journal of human genetics, 2008-06, Vol.53 (6), p.565-572

2008

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Identification of novel genetic causes of Rett syndrome-like phenotypes

Journal of medical genetics, 2016-03, Vol.53 (3), p.190-199

2016

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Síndromes de Deficiência Cerebral de Creatina

Acta médica portuguesa, 2013-01, Vol.25 (6), p.389-398

2013

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

Human mutation, 2018-10, Vol.39 (10), p.1314-1337

2018

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Value of Brain Magnetic Resonance Imaging in Mitochondrial Respiratory Chain Disorders

Pediatric neurology, 2010-03, Vol.42 (3), p.196-200

2010

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GNAO1 mutation presenting as dyskinetic cerebral palsy

Neurological sciences, 2019-10, Vol.40 (10), p.2213-2216

2019

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Phenotypic variability of myopathies associated with LAMA2 gene mutations

European journal of paediatric neurology, 2017-06, Vol.21, p.e229-e230

2017

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Suspecting of neuromuscular disease in newborns: Clinical variables more suggestive of the diagnosis in 20 years of experience

European journal of paediatric neurology, 2017-06, Vol.21, p.e230-e231

2017

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

Epileptic disorders, 2014-03, Vol.16 (1), p.50-55

2014

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Evaluación neuropsicológica en niños con epilepsia: atención y funciones ejecutivas en epilepsia del lóbulo temporal

Revista de neurologiá, 2010-03, Vol.50 (5), p.265

2010

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Screening for Pompe disease in a Portuguese high risk population

Neuromuscular disorders : NMD, 2017-08, Vol.27 (8), p.777-781

2017

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Nusinersen: Single-Centre Real-Life Experience in Type 1 Spinal Muscular Atrophy

Portuguese journal of pediatrics (Online), 2021-11, Vol.52 (4)

2021

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Hypotonia: A Clinical Sign, Different Etiologies

Portuguese journal of pediatrics (Online), 2020-07, Vol.51 (3)

2020

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

Journal of Pediatric Endocrinology and Metabolism, 2016-08, Vol.29 (8), p.985-990

2016

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

Epileptic disorders, 2014-03, Vol.16 (1), p.np-np

2014

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

Movement disorders clinical practice (Hoboken, N.J.), 2019-07, Vol.6 (6), p.491-493

2019

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

Brain & development (Tokyo. 1979), 1997-06, Vol.19 (4), p.268-273

1997

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Pediatric Multiple Sclerosis Before the PARADIGMS Study: Nine Years of Experience in a Portuguese Tertiary Center

Sinapse, 2021-04, Vol.21 (1), p.33-39

Fernandes, Catarina

2021

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

Journal of clinical medicine, 2022-05, Vol.11 (10), p.2750

2022

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REMOVED: Identification of novel genetic causes of Rett syndrome-like phenotypes by whole exome sequencing

International journal of developmental neuroscience, 2015-12, Vol.47 (Pt A), p.99-99

2015

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

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

Bilateral thalamic lesions in acute necrotizing encephalopathy due to H1N1 infection

Autosomal Recessive Axonal Neuropathy With Neuromyotonia: A Rare Entity

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

Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy

Identification of novel genetic causes of Rett syndrome-like phenotypes

Síndromes de Deficiência Cerebral de Creatina

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

Value of Brain Magnetic Resonance Imaging in Mitochondrial Respiratory Chain Disorders

GNAO1 mutation presenting as dyskinetic cerebral palsy

Phenotypic variability of myopathies associated with LAMA2 gene mutations

Suspecting of neuromuscular disease in newborns: Clinical variables more suggestive of the diagnosis in 20 years of experience

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

Evaluación neuropsicológica en niños con epilepsia: atención y funciones ejecutivas en epilepsia del lóbulo temporal

Screening for Pompe disease in a Portuguese high risk population

Nusinersen: Single-Centre Real-Life Experience in Type 1 Spinal Muscular Atrophy

Hypotonia: A Clinical Sign, Different Etiologies

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

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

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

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

Pediatric Multiple Sclerosis Before the PARADIGMS Study: Nine Years of Experience in a Portuguese Tertiary Center

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

REMOVED: Identification of novel genetic causes of Rett syndrome-like phenotypes by whole exome sequencing

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