Zobrazeno 1 - 10
of 5 437
pro vyhledávání: '"NF1"'
Autor:
Hannah Slevin, Fiona Kehinde, Jannath Begum-Ali, Ceri Ellis, Emma Burkitt-Wright, Jonathan Green, Mark H. Johnson, Greg Pasco, Tony Charman, Emily J. H. Jones, Shruti Garg, the EDEN-STAARS team
Publikováno v:
Molecular Autism, Vol 15, Iss 1, Pp 1-16 (2024)
Abstract Background Children with Neurofibromatosis 1 (NF1) show cognitive, behavioural and social differences compared to their peers. However, the age and sequence at which these differences begin to emerge is not fully understood. This prospective
Externí odkaz:
https://doaj.org/article/02b46482a5ce41c0b23ebd5c154935d7
Autor:
Rita Quental, Diana Pinho, Natália Tkachenko, Diana Gonzaga, Maria do Céu Mota, Cristina Garrido, Carla Carmona, Sofia Quental, Ana Maria Fortuna, Célia Azevedo Soares
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 25, Iss 1, Pp 1-4 (2024)
Abstract Background Neurofibromatosis type 1 (NF1), an autosomal dominant disorder, characterized by a spectrum of diverse neurocutaneous manifestations, is caused by heterozygous pathogenic variants in NF1 gene. While patients with NF1 often exhibit
Externí odkaz:
https://doaj.org/article/cfb400650cd94a818d9ff88d77034158
Publikováno v:
Neurologia Medico-Chirurgica, Vol 64, Iss 8, Pp 299-308 (2024)
NF2-related schwannomatosis (NF2; previously termed neurofibromatosis type 2) is a tumor-prone disorder characterized by development of multiple schwannomas and meningiomas. The diagnostic criteria of NF2 have been regularly revised. Clinical criteri
Externí odkaz:
https://doaj.org/article/5097e61d6ca34404ae295417afc1ed15
Autor:
Valentina Botero, Seth M. Tomchik
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 16, Iss 1, Pp 1-16 (2024)
Abstract Neurofibromatosis type 1 (OMIM 162200) affects ~ 1 in 3,000 individuals worldwide and is one of the most common monogenetic neurogenetic disorders that impacts brain function. The disorder affects various organ systems, including the central
Externí odkaz:
https://doaj.org/article/eab0c970f37d4a3996d3c77566b3abd4
Akademický článek
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Publikováno v:
Spine Surgery and Related Research, Vol 8, Iss 4, Pp 469-472 (2024)
Externí odkaz:
https://doaj.org/article/9cb963feefbb47f983cbc65fce8c6da0
Publikováno v:
Journal of Multidisciplinary Healthcare, Vol Volume 17, Pp 1803-1817 (2024)
Shaan Lalvani, Rebecca M Brown Department of Neurology, The Mount Sinai Hospital, New York, NY, USACorrespondence: Rebecca M Brown, MD, PhD, The Mount Sinai Hospital, Department of Neurology, 1216 5th Avenue, New York, NY, 10029, USA, Tel +1 21282485
Externí odkaz:
https://doaj.org/article/073f1f9af19443639be63f72fae4cbe5
Autor:
Edgar Creus‐Bachiller, Juana Fernández‐Rodríguez, Miriam Magallón‐Lorenz, Sara Ortega‐Bertran, Susana Navas‐Rutete, Cleofe Romagosa, Tulio M. Silva, Maria Pané, Anna Estival, Diana Perez Sidelnikova, Mireia Morell, Helena Mazuelas, Meritxell Carrió, Tereza Lausová, David Reuss, Bernat Gel, Alberto Villanueva, Eduard Serra, Conxi Lázaro
Publikováno v:
Molecular Oncology, Vol 18, Iss 4, Pp 895-917 (2024)
Malignant peripheral nerve sheath tumors (MPNSTs) are aggressive soft‐tissue sarcomas with a poor survival rate, presenting either sporadically or in the context of neurofibromatosis type 1 (NF1). The histological diagnosis of MPNSTs can be challen
Externí odkaz:
https://doaj.org/article/7781165f8bd2471e855029a3e508c066
Publikováno v:
Shanghai Jiaotong Daxue xuebao. Yixue ban, Vol 44, Iss 3, Pp 399-406 (2024)
Neurofibromatosis 1 (NF1) is one of the most common autosomal dominant genetic diseases of the nervous system, which occurs predominantly in children. It is a multi-system damage caused by genetic defects that cause abnormal development of neural cre
Externí odkaz:
https://doaj.org/article/3aab2572f7a340779d4bced3d6e8efbc
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-13 (2024)
Abstract Background Interventions for social difficulties have not been investigated in the neurofibromatosis type 1 (NF1) population despite observations of elevated rates of social difficulties. In this pilot study, the effectiveness of a 14-week t
Externí odkaz:
https://doaj.org/article/389346d2fffb4d39966fce5385652b7b