Results 131 to 140 of about 25,453,690 (257)

Nonsteroidal sulfamate derivatives as new therapeutic approaches for Neurofibromatosis 2 (NF2). [PDF]

BMC Pharmacol Toxicol, 2019
Shen YC, Arellano-Garcia C, Menjivar RE, Jewett EM, Dohle W, Karchugina S, Chernoff J, Potter BVL, Barald KF.   +8 more
europepmc   +1 more source

The NFTI-QOL: A Disease-Specific Quality of Life Questionnaire for Neurofibromatosis 2

Journal of Neurological Surgery—Part B, 2012
R. Hornigold, J. Golding, G. Leschziner, R. Obholzer, M. Gleeson, N. Thomas, D. Walsh, S. Saeed, R. Ferner   +8 more
semanticscholar   +1 more source

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

Clinical Genetics, Volume 110, Issue 2, Page 268-269, August 2026.
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

From process to progress-2017 International Conference on Neurofibromatosis 1, Neurofibromatosis 2 and Schwannomatosis. [PDF]

Am J Med Genet A, 2019
Ferner RE, Bakker A, Elgersma Y, Evans DGR, Giovannini M, Legius E, Lloyd A, Messiaen LM, Plotkin S, Reilly KM, Schindeler A, Smith MJ, Ullrich NJ, Widemann B, Sherman LS.   +14 more
europepmc   +1 more source

Regulation of mTOR Complex 2 Signaling in Neurofibromatosis 2–Deficient Target Cell Types

Molecular Cancer Research, 2012
Marianne F. James, E. Stivison, R. Beauchamp, Sangyeul Han, Hua Li, M. Wallace, J. Gusella, A. Stemmer-Rachamimov, V. Ramesh   +8 more
semanticscholar   +1 more source

Selumetinib as a Target Therapy in Progressive Paediatric Low‐Grade Gliomas—Case Series (pLGG)

Journal of Paediatrics and Child Health, Volume 62, Issue 8, Page 1499-1508, August 2026.
ABSTRACT Background Optic pathway gliomas (OPGs) occur in 15%–20% of children with neurofibromatosis type 1 (NF1). While smaller gliomas may be only monitored, the current standard of care for symptomatic ones relies on chemotherapy, most commonly carboplatin and vincristine.
Laura Trapani, Giulia Gortani, Andrea Magnolato, Flora Maria Murru, Elisabetta Cattaruzzi, Laura Diplotti, Paola Michieletto, Silvia Giganti, Davide Zanon, Alessandra Maestro, Valentina Kiren, Egidio Barbi, Irene Bruno   +12 more
wiley   +1 more source

Classification of schwannomas and the new naming convention for "neurofibromatosis-2": Genetic updates and international consensus recommendation. [PDF]

Neuroradiol J
Rai P, Bathla G, Soni N, Desai A, Rao D, Vibhute P, Agarwal A.   +6 more
europepmc   +1 more source

Hybrid nerve sheath tumor of the spinal canal and neurofibromatosis-2, where the twain shall meet-a case report and review of literature. [PDF]

J Med Case Rep
Nayak Manel D, Thaker S, Vasudevan G, Menon G.   +3 more
europepmc   +1 more source

Gamma knife stereotactic radiosurgery for neurofibromatosis 2 (NF2)-associated meningiomas; a systematic review and meta-analysis. [PDF]

Acta Neurochir (Wien)
Habibi MA, Mirjani MS, Ahmadvand MH, Delbari P, Alasti O, Akbari Javar MT, Askari Yazdian F, Hamidi Rad R, Dinpazhouh A, Mehmandoost M, Tos SM, Hajikarimloo B, Bahri A, Aghaei F, Mehrizi MAA.   +14 more
europepmc   +1 more source

[18F]fluorothymidine and [18F]fluorodeoxyglucose PET Imaging Demonstrates Uptake and Differentiates Growth in Neurofibromatosis 2 Related Vestibular Schwannoma. [PDF]

Otol Neurotol, 2019
Anton-Rodriguez JM, Lewis D, Djoukhadar I, Russell D, Julyan P, Coope D, King AT, Lloyd SKL, Evans DG, Jackson A, Matthews JC.   +10 more
europepmc   +1 more source