Results 21 to 30 of about 1,416 (147)

GABA deficiency in NF1: a multimodal [11C]-Flumazenil and spectroscopy study [PDF]

, 2016
Objective: To provide a comprehensive investigation of the GABA system in patients with Neurofibromatosis type 1 (NF1) that allows understanding the nature of the GABA imbalance in humans at pre- and post-synaptic levels. Methods: In this cross-sectional
Abrunhosa, AJ, Bernardino, I, Castelo-Branco, M, Ferreira, N, Patricio, M, Rebola, J, Ribeiro Violante, I   +6 more
core   +1 more source

Case for diagnosis [PDF]

, 2011
O termo úlcera de Marjolin é usado para designar a transformação maligna que se origina na pele cronicamente lesada. Trata-se de neoplasia mais agressiva do que aquelas não relacionadas com cicatriz e, frequentemente, é subdiagnosticada ou tratada de ...
ALMEIDA, José Roberto Paes de, DINATO, Marcelo Mattos e, DINATO, Sandra Lopes Mattos e, NÓVOA, Estela Gemha de, ROMITI, Ney   +4 more
core   +3 more sources

Phaeochromocytoma Associated to Von Recklinghausen Neurofibromatosis Type I: a Rare Clinical Case [PDF]

, 2011
Os feocromocitomas são neoplasias originárias das células cromafins da crista neural localizados, na sua grande maioria, na medula supra-renal, podendo também aparecer nos gânglios simpáticos (paragangliomas).
Jorge, V, Noronha, C, Pires da Silva, I, Riscado, M, Sousa, M   +4 more
core  

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

Thalamic intracerebral schwannoma: case report [PDF]

, 2002
The intracranial schwannomas cover about 8% of all the brain tumors, although, those localized inside the encephalic parenchyma are rare only 55 cases being reported in the literature.
Andrade, Guilherme Cabral De, Braga, Fernando Menezes, Paiva Neto, Manoel Antonio de   +2 more
core   +2 more sources

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

Charakterisierung molekulargenetischer Prognosefaktoren auf dem kurzen Arm des Chromosoms 1 in humanen Meningeomen. [PDF]

, 2004
Meningeome, zumeist benigne Neoplasien des ZNS, stellen bis heute in manchen Fällen eine diagnostische und therapeutische Herausforderung dar: Zum einen ist für die kleine Gruppe der atypischen und anaplastischen Tumoren das Grading aufgrund ...
Bertalanffy, Helmut (Prof. Dr. med.), Lindner, Christine   +1 more
core   +1 more source

Trametinib in Adults with Neurofibromatosis Type 1‐Related Symptomatic Plexiform Neurofibromas

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   +1 more source