Results 61 to 70 of about 16,386 (154)

No increased risk of spinal cerebrospinal fluid leak after spinal manipulative therapy: A retrospective cohort study

PM&R, EarlyView.
Abstract Background Spinal cerebrospinal fluid (CSF) leaks, a rare but debilitating condition, have been described following spinal manipulative therapy (SMT) in case reports. However, the nature of the potential association between SMT and CSF leak is uncertain, and symptoms such as neck pain or headache may reflect preexisting leaks rather than ...
Robert J. Trager, Collin M. Labak, Anthony N. Baumann, Tyler H. Snodgrass, Zachary A. Cupler   +4 more
wiley   +1 more source

Neurofibromin knockdown in glioma cell lines is associated with changes in cytokine and chemokine secretion in vitro. [PDF]

, 2018
The neurofibromin-1 tumor suppressor gene (NF1) is altered in approximately 20% of sporadic glioblastoma (GBM) cases. NF1 deficient GBM frequently shows a mesenchymal gene expression signature, suggesting a relationship between NF1 status and the tumor ...
Mukherjee, Joydeep, Pieper, Russell O, Wood, Matthew D   +2 more
core   +3 more sources

Optic nerve sheath meningioma exhibits neural niche‐associated transcriptomic features and rare copy number variation‐linked evolution

Brain Pathology, EarlyView.
Optic nerve sheath meningiomas are typically NF2‐intact with few copy number alterations and are generally clinically indolent. Rare aggressive recurrences are associated with progressive accumulation of copy number variations, including CDKN2A/B homozygous deletion, 1q gain, and 14q loss.
Daisuke Sato, Satoru Miyawaki, Yu Sakai, Kenta Ohara, Yu Teranishi, Yudai Hirano, Motoyuki Umekawa, Takahiro Tsuchiya, Shotaro Ogawa, So Hirata, Hiroki Hongo, Hideaki Ono, Daisuke Komura, Tetsuo Ushiku, Shumpei Ishikawa, Nobuhito Saito   +15 more
wiley   +1 more source

Challenges in drug discovery for neurofibromatosis type 1-associated low-grade glioma [PDF]

, 2016
Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder that results from germline mutations of the NF1 gene, creating a predisposition to low-grade gliomas (pilocytic astrocytoma; PA) in young children. Insufficient data and resources represent
Gutmann, David H, Keller, Charles, Pan, Yuan, Ricker, Cora A   +3 more
core   +3 more sources

Novel drugs approved by the EMA, the FDA and the MHRA in 2025: A year in review

British Journal of Pharmacology, EarlyView.
Abstract In the 2025 novel drug mini‐review, one can take a full measure of the ingenuity that underlies current drug design and development, despite the year's smaller harvest (46 novel drugs) compared to 2024 (53) and 2023 (70). 54% of the novel drugs are first‐in‐class (FIC).
Andreas Papapetropoulos, Stavros Topouzis, Steve P. H. Alexander, Miriam M. Cortese‐Krott, Zsuzsanna Helyes, Kirill Martemyanov, Claudio Mauro, Nithyanandan Nagercoil, Reynold A. Panettieri Jr, Hemal H. Patel, Rainer Schulz, Barbara Stefanska, Gary J. Stephens, Nathalie Vergnolle, Xin Wang, Stephen Ward, Péter Ferdinandy   +16 more
wiley   +1 more source

Ocular manifestations of Sturge–Weber syndrome: pathogenesis, diagnosis, and management [PDF]

, 2016
Sturge-Weber syndrome has been included in the group of phakomatoses that is characterized by hamartomas involving the brain, skin, and eyes. The characteristic facial port-wine stain, involving the first branch of the trigeminal nerve and the embryonic ...
Abdolrahimzadeh, Solmaz, BRUSCOLINI, ALICE, LA CAVA, Maurizio, LAMBIASE, ALESSANDRO, Mantelli, Flavio   +4 more
core   +1 more source

Deep‐Intronic Variant in RUNX2 Causing Pseudo‐Exon Inclusion in a Family With Cleidocranial Dysplasia

Clinical Genetics, EarlyView.
A deep‐intronic single nucleotide variant in RUNX2 causes the characteristic clinical features of cleidocranial dysplasia (CCD) in a family via pseudo‐exon inclusion into the mRNA. The pseudo‐exon contains a premature stop codon and triggers mRNA decay, which results in RUNX2 haploinsufficiency, the known disease mechanism.
Dorothea Stojanovic, Dorota Garczarczyk‐Asim, Julia Vodopiutz, Andreas R. Janecke   +3 more
wiley   +1 more source

Neonates born at term with periventricular haemorrhagic infarction: Risk factors and clinical presentation

Developmental Medicine &Child Neurology, EarlyView.
This case series describes infants born near term with periventricular hemorrhagic infarction (PVHI), highlighting seizures as a common early symptom. Neonatal complications during delivery and pro‐thrombotic genetic mutations were slightly more common. MRI‐classified involvement was predominantly in the caudate vein territory.
Aleksandra Zaykova, Jeroen Dudink, Floris Groenendaal, Maarten H. Lequin, Manon J.N.L. Benders, Maria Luisa Tataranno, Elise Roze   +6 more
wiley   +1 more source

Merlin Phosphorylation by p21-activated Kinase 2 and Effects of Phosphorylation on Merlin Localization [PDF]

, 2002
The Nf2 tumor suppressor gene product merlin is related to the membrane-cytoskeleton linker proteins of the band 4.1 superfamily, including ezrin, radixin, and moesin (ERMs). Merlin is regulated by phosphorylation in a Rac/cdc42-dependent fashion.
Eckman, Matthew S., Jacks, Tyler, Johnson, Kristen C., Kissil, Joseph L.   +3 more
core   +1 more source

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848 [PDF]

, 2018
Neurofibromatosis type 1 (NF1), a common genetic disorder with a birth incidence of 1:2,000–3,000, is characterized by a highly variable clinical presentation.
Balasubramanian, M. (Meena), Barnett, C.P. (Christopher P.), Becker, T.A. (Troy A.), Ben-Shachar, S. (Shay), Bertola, D.R. (Débora Romeo), Blakeley, J.O. (Jaishri O.), Burkitt-Wright, E.M.M. (Emma M.M.), Callaway, A. (Alison), Callens, T. (Tom), Chen, Y. (Yunjia), Chen, Z. (Zhenbin), Claes, K. (Kathleen), Crenshaw, M. (Melissa), Cunha, K.S. (Karin S.), Cunningham, M. (Mitch), D'Agostino, M.D. (Maria Daniela), Dahan, K. (Karin), De Luca, A. (Alessandro), Destrée, A. (Anne), Dhamija, R. (Radhika), Eoli, M. (Marica), Evans, D.G.R. (D. Gareth R.), Galvin-Parton, P. (Patricia), George-Abraham, J.K. (Jaya K.), Gomes, A. (Alicia), Gripp, K.W. (Karen), Guevara-Campos, J. (Jose), Hanchard, N.A. (Neil A.), Hernández-Chico, C. (Concepcion), Hsiao, M.-C. (Meng-Chang), Immken, L. (LaDonna), Janssens, S. (Sandra), Johnson, S. (Sherrell), Jones, K.J. (Kristi), Keena, B.A. (Beth A.), Kochhar, A. (Aaina), Koczkowska, M. (Magdalena), Korf, B. (Bruce), Legius, E. (Eric), Liebelt, J. (Jan), Mahoney, M.J. (Maurice J.), Martin, Y. (Yolanda), Martir-Negron, A. (Arelis), Maystadt, I. (Isabelle), McDougall, C. (Carey), McEntagart, M. (Meriel), Mendelsohn, N.J., Messiaen, L.M. (Ludwine), Miller, D.T. (David T.), Mortier, G. (Geert), Morton, J. (Jenny), Pappas, J. (John), Plotkin, S.R. (Scott R.), Pond, D. (Dinel), Rosenbaum, K. (Kenneth), Rubin, K. (Karol), Russell, L. (Laura), Rutledge, L.S. (Lane S.), Saletti, V. (Veronica), Schonberg, R. (Rhonda), Schreiber, A. (Allison), Seidel, M. (Meredith), Sharp, A. (Angela), Siqveland, E. (Elizabeth), Stockton, D.W. (David), Thornton, A.S. (Andrew), Trevisson, E. (Eva), Ullrich, N.J. (Nicole J.), Upadhyaya, M. (Meena), Verhelst, H. (H.), Wallace, M.R. (Margaret), Yap, Y.-S. (Yoon-Sim), Zackai, E. (Elaine), Zonana, J. (Jonathan), Zurcher, V. (Vickie)   +74 more
core   +1 more source