Results 21 to 30 of about 3,260 (219)

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 TIPO 1 SEGMENTAR OU EM MOSAICO: A PROPÓSITO DE 2 DOENTES

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   +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

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

Síndrome de moyamoya associada a neurofibromatose tipo I em paciente pediátrico [PDF]

, 2011
CONTEXT: Neurofibromatosis type 1 (NF-1) is the most prevalent autosomal dominant genetic disorder among humans. Moyamoya disease is a cerebral vasculopathy that is only rarely observed in association with NF-1, particularly in the pediatric age range ...
DARRIGO JÚNIOR, Luiz Guilherme, MACHADO, André de Aboim, SANTOS, Antonio Carlos dos, SCRIDELI, Carlos Alberto, TONE, Luiz Gonzaga, VALERA, Elvis Terci   +5 more
core   +1 more source

Survival and long‐term socioeconomic consequences of childhood and adolescent onset of brain tumours

Developmental Medicine &Child Neurology, Volume 65, Issue 7, Page 942-952, July 2023., 2023
Abstract Aim To evaluate survival distributions, long‐term socioeconomic consequences, and health care costs in patients with childhood and adolescent onset of brain tumours in a Danish nationwide prospective cohort study. Method A search of national registries identified 2283 patients (1198 males, 1085 females; mean age 9 years 6 months [SD 5 years 7 ...
Line Pickering, Katharina M. Main, Ulla Feldt‐Rasmussen, Astrid Sehested, René Mathiasen, Marianne Klose, Rikke Ibsen, Jakob Kjellberg, Poul Jennum   +8 more
wiley   +1 more source

La neurofibromatose 1 [PDF]

médecine/sciences, 2001
La neurofibromatose 1 (NF1) est une maladie autosomique dominante qui atteint environ 1 individu sur 4 000. Le gene NF1 situe sur le chromosome 17 en q11.2 est constitue d’un domaine d’environ 335 kilobases et code pour une proteine de 2 818 acides amines, la neurofibromine. C’est un gene suppresseur de tumeur.
openaire   +1 more source

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