Results 1 to 10 of about 29,988,802 (163)

Neurofibromatose 1: à propos d'un cas historique [PDF]

The Pan African Medical Journal, 2014
La neurofibromatose 1 (NF1) ou maladie de Von Recklinghausen est une maladie génétique fréquente. C'est une affection autosomique dominante qui se caractérise par une expression clinique variable au sein d'une même famille.
Nada El Moussaoui, Nadia Ismaili
doaj   +2 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

At-Risk Phenotype of Neurofibromatose-1 Patients: A Multicentre Case-Control Study [PDF]

Orphanet Journal of Rare Diseases, 2011
Objectives To assess associations between subcutaneous neurofibromas (SC-NFs) and internal neurofibromas in patients with neurofibromatosis type 1 (NF-1) and to determine whether the association between SC-NFs and peripheral neuropathy was ascribable to ...
Ferkal Salah, Valeyrie-Allanore Laurence, Bastuji-Garin Sylvie, Sbidian Emilie, Lefaucheur Jean P, Drouet Alain, Brugière Pierre, Vialette Cédric, Combemale Patrick, Barbarot Sébastien, Wolkenstein Pierre   +10 more
doaj   +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 TIPO 1 SEGMENTAR OU EM MOSAICO: A PROPÓSITO DE 2 DOENTES [PDF]

Revista da Sociedade Portuguesa de Dermatologia e Venereologia, 2014
A neurofibromatose tipo 1 (NF1) segmentar caracteriza-se pela presença das manifestações típicas da NF1 circunscritas a um ou mais segmentos corporais e geralmente localizadas unilateralmente.
Paulo Morais, Fortunato Vieira
doaj   +2 more sources

Validierung der deutschen Version des Fragebogens zur dermatologischen Lebensqualität von Säuglingen und Kleinkindern (InToDermQoL) [PDF]

J Dtsch Dermatol Ges
Zusammenfassung Hintergrund und Zielsetzung Hauterkrankungen können die Lebensqualität (quality of life; QoL) von pädiatrischen Patienten und ihren Familien erheblich beeinträchtigen. Der Fragebogen zur Lebensqualität in der Dermatologie bei Säuglingen und Kleinkindern (Infants and Toddlers Dermatology Quality of Life questionnaire; InToDermQoL) ist ...
Traxler J, da Silva Burger N, Augustin M, Ott H, Hoffmann S, Fölster‐Holst R, Baumeister M, Staubach P, Sommer R.   +8 more
europepmc   +2 more sources

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

Neurofibromatose Tipo 1: Envolvimento Cutâneo Exuberante

Acta Médica Portuguesa, 2020
N/a.
Sandra Ferreira, Manuela Selores, Tiago Torres   +2 more
doaj   +1 more source