Results 11 to 20 of about 3,743 (226)

Hemifacial spasm in a patient with neurofibromatosis and Arnold-Chiari malformation: a unique case association Espasmo hemifacial em paciente com neurofibromatose e malformação de Arnold-Chiari: uma associação rara [PDF]

Arquivos de Neuro-Psiquiatria, 2007
BACKGROUND: The association of hemifacial spasm (HFS), Chiari type I malformation (CIM) and neurofibromatosis type 1 (NF1) has not been described yet. CASE REPORT: We report the case of a 31-year-old woman with NF1 who developed a right-sided HFS.
Andre Carvalho Felício, Clecio de Oliveira Godeiro-Junior, Vanderci Borges, Sonia Maria de Azevedo Silva, Henrique Ballalai Ferraz   +4 more
doaj   +3 more sources

Atteinte pulmonaire sévère au cours de la neurofibromatose de type 1 [PDF]

Revue Des Maladies Respiratoires, 2014
Type 1 neurofibromatosis (NF1) is a hereditary disease inherited as an autosomal dominant. Respiratory involvement is rare. We report the case of a woman suffering from NF1 with mutation of the corresponding gene and with respiratory involvement ...
David Montani
exaly   +5 more sources

Neurofibromatose de von Recklinghausen.

Acta Médica Portuguesa, 1989
Neurofibromatosis is a multisystemic disease in which the multiple possible clinical manifestations may have important diagnostic and prognostic implications; if arterial hypertension coexists, many pathogenic mechanisms justify that the possible ...
A Ventura, A Murinello, J Ribeiro, A Morgado, J A Mota   +4 more
doaj   +3 more sources

Prevalence of Oral Alterations and Correlation Between Oral and Cutaneous Neurofibromas in Neurofibromatosis Type 1: A Retrospective Case-Control Study. [PDF]

J Oral Pathol Med
ABSTRACT Objective The aim of this study was to determine the prevalence of oral alterations detectable through physical examination in NF1 individuals. Additionally, we assessed the correlation between the number of oral and cutaneous neurofibromas. Design This retrospective study evaluated oral alterations in individuals with and without NF1.
de Pinho Montovani P, da Costa GPWM, Rozza-de-Menezes RE, Cunha KS.   +3 more
europepmc   +2 more sources

Assessing Executive Functions in Children With Developmental Dyslexia: A Comprehensive Approach. [PDF]

Dyslexia
ABSTRACT Developmental dyslexia (DD) is frequently associated with executive function (EF) deficits, particularly in inhibition, working memory and cognitive flexibility. This study assessed EF in 40 children with DD, aged 7–16, using both performance‐based tests and rating measures, and examined the role of co‐occurring attention deficit hyperactivity
Guerra A, Remaud J, Cadeau O, Charbonnier V, Dubrey MC, Proteau J, Daheron M, Le Roch M, Roulin JL, Fournet N, Le Gall D, Roy A.   +11 more
europepmc   +2 more sources

Loss-of-Function Variants in CPT1C: No Support for a Causal Role in Hereditary Spastic Paraplegia. [PDF]

Mov Disord
Abstract Background Hereditary spastic paraplegias (HSPs) are neurodegenerative disorders characterized by lower‐limb spasticity. Pathogenic variants in CPT1C have been implicated in HSP. Objective The objective of this study was to assess whether CPT1C loss‐of‐function (LOF) variants are causally associated with HSP.
Zhu R, Liu L, Estiar MA, Asayesh F, Ahmad J, Teferra M, Yoon G, Tarnopolsky M, Boycott KM, Dupre N, Dion PA, Suchowersky O, Jordanova A, Lee YC, Stevanin G, Zuchner S, Rouleau GA, Gan-Or Z.   +17 more
europepmc   +2 more sources

Trametinib in Adults with Neurofibromatosis Type 1-Related Symptomatic Plexiform Neurofibromas. [PDF]

Ann Neurol
Objective Mitogen‐activated protein kinase kinase inhibitors have shown promising results in treatment of plexiform neurofibromas in neurofibromatosis type 1 patients, but data in adults are limited. The aim of this phase 2 study was to investigate the efficacy and safety of trametinib in adults with neurofibromatosis type 1.
Noordhoek DC, Hanff DF, French PJ, van Dijk SA, Wiemer EAC, Manintveld OC, van den Bent MJ, Taal W.   +7 more
europepmc   +2 more sources

Neurofibromin expression by normal salivary glands

Head & Face Medicine, 2021
Introduction Neurofibromin, a protein encoded by the NF1 gene, is mutated in neurofibromatosis 1, one of the most common genetic diseases. Oral manifestations are common and a high prevalence of hyposalivation was recently described in individuals with ...
Eloá Borges Luna, Pâmella Pinho Montovani, Rafaela Elvira Rozza-de-Menezes, Karin Soares Cunha   +3 more
doaj   +1 more source

Neurofibromatose associada a arteriopatia de moyamoya e aneurisma fusiforme: relato de caso [PDF]

Arquivos de Neuro-Psiquiatria, 1998
Relato de caso de neurofibromatose tipo I associada a doença oclusiva extensa do sistema carotídeo em sua porção intracraniana e aneurisma fusiforme de circulação posterior.
JOSÉ IBIAPINA SIQUEIRA NETO, GISELE SAMPAIO SILVA, JOSÉ DANIEL VIEIRA DE CASTRO, ANTÔNIO CARLOS SANTOS   +3 more
doaj   +1 more source

The Neurofibromatoses

Deutsches Ärzteblatt international, 2020
Neurofibromatosis of types 1 and 2 (NF1, NF2) and schwannomatosis are the diseases that make up the neurofibromatosis spectrum. With respective incidences of 1 in 3000, 1 in 33 000, and 1 in 60 000 births, they form part of the group of rare tumor-suppressor syndromes.
Said, Farschtschi, Victor-Felix, Mautner, Anna Cecilia Lawson, McLean, Alexander, Schulz, Reinhard E, Friedrich, Steffen K, Rosahl   +5 more
openaire   +3 more sources