Results 11 to 20 of about 553 (178)

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

NEUROFIBROMATOSE GÉNÉRALISÊE [PDF]

The Journal of Nervous and Mental Disease, 1900
n ...
Marie, Pierre, Couvelaire, A.
openaire   +2 more sources

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

Targeted Therapies for the Neurofibromatoses [PDF]

Cancers, 2021
Over the past several years, management of the tumors associated with the neurofibromatoses has been recognized to often require approaches that are distinct from their spontaneous counterparts. Focus has shifted to therapy aimed at minimizing symptoms given the risks of persistent, multiple tumors and new tumor growth.
Lauren D. Sanchez, Ashley Bui, Laura J. Klesse   +2 more
openaire   +2 more sources

Heterozygous NF1 dermal fibroblasts modulate exosomal content to promote angiogenesis in a tissue‐engineered skin model of neurofibromatosis type‐1

Journal of Neurochemistry, Volume 167, Issue 4, Page 556-570, November 2023., 2023
In this study, we investigated the influence of dermal fibroblast in modifying the surrounding microenvironment. Neovascularization plays a crucial role in neurofibromas formation, growth, and malignant transformation. Using NF1‐derived tissue‐engineered skins, we showed that NF1 heterozygosity in human dermal fibroblasts promoted angiogenesis through ...
Vincent Roy, Alexandre Paquet, Lydia Touzel‐Deschênes, Hélène T. Khuong, Nicolas Dupré, Francois Gros‐Louis   +5 more
wiley   +1 more source

Oral Levodopa Therapy, Vitamin B6 and Peripheral Neuropathy: A Cross-Sectional Observational Study. [PDF]

Mov Disord Clin Pract
Movement Disorders Clinical Practice, Volume 12, Issue 1, Page 120-122, January 2025.
Déry C, Buchmann C, Labrecque G, Caron V, Simonyan D, Blais M, Bouchard M, Dupré N.   +7 more
europepmc   +2 more sources