J. P. Vieira

发表

Dynamics of epileptic activity in a peculiar case of childhood absence epilepsy and correlation with thalamic levels of GABA

F. H. Lopes da Silva, R. Nunes, A. Leal, 2016, Epilepsy & Behavior Case Reports.

Importance of cutaneous changes in the diagnosis of neurological diseases

J. P. Vieira, Ana M. Mateus, Rita Lopes da Silva, 2014, Einstein.

Severe epilepsy, retardation, and dysmorphic features with a 2q deletion including SCN1A and SCN2A

P. Genton, S. Sequeira, J. P. Vieira, 2004, Neurology.

International Journal of Developmental Neuroscience Variant Rett Syndrome in a Girl with a Pericentric X-chromosome Inversion Leading to Epigenetic Changes and Overexpression of the Mecp2 Gene

B. Ylstra, M. Barbosa, F. Lopes, 2022 .

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

Jonathan E. Dickerson, R. Schiffmann, J. Tolmie, 2012, Nature Genetics.

Analysis of the generators of epileptic activity in early-onset childhood benign occipital lobe epilepsy

A. I. Dias, A. Leal, S. Nunes, 2007, Clinical Neurophysiology.

Caucasian familial moyamoya syndrome with rare multisystemic malformations.

V. Santos, J. P. Vieira, H. Nzwalo, 2013, Pediatric neurology.

Leigh Syndrome with atypical cerebellum imaging features

J. P. Vieira, C. Conceição, C. Marecos, 2019, eNeurologicalSci.

Identification of novel genetic causes of Rett syndrome-like phenotypes

D. Pinto, G. Oliveira, A. Ameur, 2016, Journal of Medical Genetics.

Ophthalmoplegic Migraine and Infundibular Dilatation of a Cerebral Artery

J. P. Vieira, L. Gomes, S. Jacinto, 2008, Headache.

Acute Infantile Thalamic Necrosis

J. P. Vieira, N. Lobo Anilines, A. Gomes, 1995, Developmental medicine and child neurology.

Primary Ciliary Dyskinesia and Hydrocephalus With Aqueductal Stenosis

J. P. Vieira, Rita Silva, P. Lopes, 2012, Journal of child neurology.

Borrelia lusitaniae Infection Mimicking Headache, Neurologic Deficits, and Cerebrospinal Fluid Lymphocytosis

J. P. Vieira, M. Brito, I. L. de Carvalho, 2019, Journal of child neurology.

Postinfectious Anti–Myelin Oligodendrocyte Glycoprotein Antibody Positive Optic Neuritis and Myelitis

J. P. Vieira, M. Brito, J. Sequeira, 2017, Journal of child neurology.

Rett syndrome with and without detected MECP2 mutations: An attempt to redefine phenotypes

G. Oliveira, J. Epplen, P. Maciel, 2011, Brain and Development.

Targeted next generation sequencing identifies novel pathogenic variants and provides molecular diagnoses in a cohort of pediatric and adult patients with unexplained mitochondrial dysfunction.

E. Martins, E. Rodrigues, L. Vilarinho, 2019, Mitochondrion.

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.

Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

L. Lagae, A. Vanderver, J. Tolmie, 2014, Nature Genetics.

Epilepsy in tuberous sclerosis complex: Findings from the TOSCA Study

M. Jaatun, K. Katanyuwong, P. Kwan, 2018, Epilepsia open.

Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA)

M. Jaatun, K. Katanyuwong, E. Pataraia, 2021, Orphanet Journal of Rare Diseases.

Lupus myelopathy in a child.

J. P. Vieira, Deolinda Barata, M. Abranches, 2002, Pediatric neurology.

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.

Bilateral facial palsy: a form of neuroborreliosis presentation in paediatric age

J. P. Vieira, M. Brito, T. Francisco, 2013, BMJ Case Reports.

Analysis of Highly Conserved Regions of the 3’UTR of MECP2 Gene in Patients with Clinical Diagnosis of Rett Syndrome and Other Disorders Associated with Mental Retardation

G. Oliveira, S. Sommer, P. Maciel, 2008, Disease markers.

Adding evidence to the role of NEUROG1 in congenital cranial dysinnervation disorders

A. Bertoli-Avella, A. L. Taylor Tavares, J. P. Vieira, 2021, Clinical genetics.

Methadone Intoxication in a Child: Toxic Encephalopathy?

J. P. Vieira, M. Correia, Deolinda Barata, 2006, Journal of child neurology.

Interictal spike EEG source analysis in hypothalamic hamartoma epilepsy

A. Leal, J. P. Vieira, Eulália Calado, 2002, Clinical Neurophysiology.

Catatonia in a teenager after use of mephedrone as a recreational drug

J. P. Vieira, L. Ventura, Neide Urbano, 2013 .

Fatal Central Nervous System Lymphocytic Vasculitis after Treatment for Burkitt Lymphoma in a Patient with a SH2D1A Mutation

J. P. Vieira, Y. Bryceson, B. Tesi, 2019, The Pediatric infectious disease journal.

Sulfite oxidase deficiency – An unusual late and mild presentation

A. I. Dias, J. P. Vieira, S. Rocha, 2014, Brain and Development.

The BOLD Effect of Interictal Spike Activity in Childhood Occipital Lobe Epilepsy

Alberto Leal, A. Leal, M. Secca, 2006, Epilepsia.

Anatomical and physiological basis of continuous spike–wave of sleep syndrome after early thalamic lesions

A. Leal, J. Ferreira, J. P. Vieira, 2018, Epilepsy & Behavior.

Movement disorders in Rett syndrome: An analysis of 60 patients with detected MECP2 mutation and correlation with mutation type

G. Oliveira, P. Maciel, P. Cabral, 2008, Movement disorders : official journal of the Movement Disorder Society.

Analysis of the dynamics and origin of epileptic activity in patients with tuberous sclerosis evaluated for surgery of epilepsy

A. I. Dias, A. Leal, L. Tavora, 2008, Clinical Neurophysiology.

TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study

M. Jaatun, K. Katanyuwong, E. Pataraia, 2018, Orphanet Journal of Rare Diseases.

Non-progressive leukoencephalopathy with bilateral temporal cysts.

J. P. Vieira, J. Saldanha, A. Gomes, 2001, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Screening for Pompe disease in a Portuguese high risk population

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

Epilepsy and deletions at chromosome 2q24

P. Genton, J. P. Vieira, P. Szepetowski, 2006, American journal of medical genetics. Part A.

Leigh syndrome with atypical cerebellar lesions

S. Duarte, J. P. Vieira, C. Conceição, 2019, eNeurologicalSci.

Evaluation of CSF neurotransmitters and folate in 25 patients with Rett disorder and effects of treatment

A. Ormazabal, R. Artuch, P. Maciel, 2009, Brain and Development.

Anti-N-methyl-D-aspartate receptor encephalitis with positive serum antithyroid antibodies, IgM antibodies against mycoplasma pneumoniae and human herpesvirus 7 PCR in the CSF.

J. P. Vieira, M. Brito, G. Pereira, 2014, The Pediatric infectious disease journal.

Septic arthritis presenting as brachial plexus neurophaty

J. P. Vieira, E. Calado, C. Constantino, 2011, BMJ Case Reports.

Identification of novel genetic causes of Rett syndrome-like phenotypes

D. Pinto, G. Oliveira, A. Ameur, 2016, Journal of Medical Genetics.

A Novel Genetic Variant in MBD5 Associated with Severe Epilepsy and Intellectual Disability: Potential Implications on Neural Primary Cilia

F. Duque, G. Oliveira, J. Peça, 2023, International journal of molecular sciences.

Identification of novel genetic causes of Rett syndrome-like phenotypes

D. Pinto, G. Oliveira, A. Ameur, 2016, Journal of Medical Genetics.

Analysis of the EEG dynamics of epileptic activity in gelastic seizures using decomposition in independent components

A. I. Dias, A. Leal, J. P. Vieira, 2006, Clinical Neurophysiology.