Results 11 to 20 of about 234 (105)

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

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

Mariage consanguin et morbi-mortalité, courte revue de la littérature à partir d'une association exceptionnelle: syndrome de Usher et Neurofibromatose de Von Recklinghausen [PDF]

The Pan African Medical Journal, 2016
Le syndrome de Usher est défini par l'association d''une surdité de perception congénitale de sévérité variable évolutive ou non et d'une rétinopathie pigmentaire progressivement cécitante. La Neurofibromatose de Von Recklinghausen ou Neurofibromatose de
Pépin-Williams Atipo-Tsiba
doaj   +2 more sources

Le neurofibrome plexiforme diffus de la cuisse gauche chez une patiente âgée de 78 ans en milieu dermatologique à Bamako [PDF]

The Pan African Medical Journal, 2017
La neurofibromatose type I (NF) ou maladie de Von Recklinghausen est une génodermatose autosomique dominante se manifestant par des anomalies de la peau, du système nerveux, des os et des glandes endocrines.
Békaye Traoré, Youssouf Fofana
doaj   +2 more sources

Piebaldisme: une génodermatose rare [PDF]

The Pan African Medical Journal, 2017
Le piebaldisme est une génodermatose rare de transmission autosomique dominante. Il est du à l'absence congénitale des mélanocytes aux zones touchées. Nous en rapportant un cas.
Fatima Zahra Debbarh, Fatima Zahra Mernissi   +1 more
doaj   +2 more sources

Nodules de Lisch dans la maladie de Von Recklinghausen [PDF]

The Pan African Medical Journal, 2014
La maladie de Von Recklinghausen ou neurofibromatose de type I (NF1) fait partie du groupe des phacomatoses. C'est une maladie génétique qui touche autant les femmes que les hommes. Elle résulte d'un désordre précoce de l'embryogenèse.
Chama Daoudi, Rajae Daoudi
doaj   +2 more sources

Socially oriented attention in young children with neurofibromatosis type 1: An eye‐tracking study

Developmental Medicine &Child Neurology, Volume 68, Issue 4, Page 541-548, April 2026.
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.70050 Abstract Aim To examine visual engagement to social stimuli and response to joint attention in young children with neurofibromatosis type 1 (NF1) and typically developing peers (controls). Method Forty‐five preschool children were studied cross‐sectionally (mean age [SD] = 4 
Kristina M. Haebich, Darren R. Hocking, Hayley Darke, Rachel Mackenzie, Kathryn N. North, Giacomo Vivanti, Jonathan M. Payne   +6 more
wiley   +1 more source

Interventions supporting the empowerment of parent carers of children with neurodisability and other long‐term health conditions: A scoping review

Developmental Medicine &Child Neurology, Volume 68, Issue 4, Page 489-500, April 2026.
This scoping review identified 145 different interventions designed to support parent carer empowerment. These interventions have been catalogued and are presented in an interactive, online database. Abstract Aim To compile information about interventions that have been developed to support the empowerment of parent carers of children and young people ...
Jim Reeder, Morwenna Rogers, Phillip Harniess, Fatema Shamsaddin, Caomhán McGlinchey, Jane R Smith, Sally Kendall, Christopher Morris   +7 more
wiley   +1 more source

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

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   +1 more source

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

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   +1 more source