Results 11 to 20 of about 503 (171)

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

Journal of Oral Pathology &Medicine, Volume 55, Issue 1, Page 155-160, January 2026.
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.
Pâmella de Pinho Montovani, Gabriela Pizão Werneck Moreira da Costa, Rafaela Elvira Rozza‐de‐Menezes, Karin Soares Cunha   +3 more
wiley   +2 more sources

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

Dyslexia, Volume 32, Issue 1, February 2026.
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
Amanda Guerra, Julie Remaud, Olivier Cadeau, Valérie Charbonnier, Marie‐Charlotte Dubrey, Julie Proteau, Morgane Daheron, Martine Le Roch, Jean‐Luc Roulin, Nathalie Fournet, Didier Le Gall, Arnaud Roy   +11 more
wiley   +2 more sources

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

Movement Disorders, Volume 41, Issue 3, Page 779-784, March 2026.
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.
Rui Zhu, Lang Liu, Mehrdad A. Estiar, Farnaz Asayesh, Jamil Ahmad, Meron Teferra, Grace Yoon, Mark Tarnopolsky, Kym M. Boycott, Nicolas Dupre, Patrick A. Dion, Oksana Suchowersky, Albena Jordanova, Yi‐Chung Lee, Giovanni Stevanin, Stephan Zuchner, Guy A. Rouleau, Ziv Gan‐Or   +17 more
wiley   +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]

Annals of Neurology, Volume 99, Issue 1, Page 73-83, January 2026.
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.
D. Christine Noordhoek, David F. Hanff, Pim J. French, Sarah A. van Dijk, Erik A.C. Wiemer, Olivier C. Manintveld, Martin J. van den Bent, Walter Taal   +7 more
wiley   +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.
Catherine Déry, Charlie Buchmann, Geneviève Labrecque, Vicky Caron, David Simonyan, Mathieu Blais, Manon Bouchard, Nicolas Dupré   +7 more
wiley   +2 more sources

Pharmacology of inhibitors of Janus kinases – Part 2: Pharmacodynamics

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 20, Issue 12, Page 1621-1631, December 2022., 2022
Summary As small molecules, the Janus kinase inhibitors have different, dose‐dependent pharmacological binding selectivities, which, however, do not allow reliable statements about the clinical specificity of desired or side effects. It is therefore of particular importance to recognize that the pharmacodynamics of the individual Janus kinase ...
Adina Eichner, Johannes Wohlrab
wiley   +1 more source

Spécificité de la transformation sarcomateuse de la maladie de Recklinghausen: à propos de deux cas et revue de la littérature

The Pan African Medical Journal, 2013
5 à 10% des patients atteints de neurofibromatose de type 1 (NF1) développent des tumeurs malignes des gaines des nerfs périphériques (Malignant peripheral nerve sheath tumor : MPNST) contre 0,001% dans la population générale. A travers deux observations
Mouna Bourhafour, Imane Bourhafour, Meryam Ben Ameur El Youbi, Hind M'Rabti, Nourredine Benjaafar, Hassan Errihani   +5 more
doaj   +1 more source

Avaliação da motricidade orofacial em indivíduos com neurofibromatose tipo 1

Revista CEFAC, 2015
OBJETIVO: descrever e caracterizar as alterações da motricidade orofacial de indivíduos com neurofibromatose tipo 1 (NF1) e correlacionar as alterações encontradas com manifestações clínicas da neurofibromatose tipo 1, mais especificamente com a redução ...
Carla Menezes da Silva, Cristiane Aparecida dos Santos, Nilton Alves de Rezende   +2 more
doaj   +1 more source

Neurofibromatose Typ 1 – State of the art [PDF]

Journal für Klinische Endokrinologie und Stoffwechsel, 2021
ZusammenfassungNeurofibromatose Typ 1 (NF1) ist ein autosomal dominantes Tumorprädispositionssyndrom, dessen Verlauf nicht vorhersagbar ist und das in Abhängigkeit der Schwere der Symptome vom Kindesalter an eine lebenslange Betreuung durch SpezialistInnen erfordert. Neben harmlosen Hautmanifestationen (u. a.
Alicia-Christina Baumgartner, Amedeo A. Azizi   +1 more
openaire   +1 more source