Results 51 to 60 of about 2,776 (190)

The Case for Master Protocols for Rare Neurological Diseases

Annals of Neurology, Volume 100, Issue 3, Page 477-486, September 2026.
Master protocol trials allow for simultaneous multiple hypothesis testing within a common framework and might be applicable for rare diseases. In May 2025, the Network for Excellence in Neuroscience Clinical Trials convened a multistakeholder conference to discuss master protocol trials in rare neurological disorders.
Jennifer Vermilion, Sabrina Paganoni, Scott R. Plotkin, Melanie Quintana, Sara B. Calvert, Ineka T. Whiteman, Raymond Y. Wang, Nadia Moore, Erika F. Augustine   +8 more
wiley   +1 more source

Whole-body imaging in schwannomatosis [PDF]

Neurology, 2011
A 23-year-old man with schwannomatosis1 was imaged with whole-body MRI and 18F FDG-PET to assess the extent of disease prior to initiating systemic therapy for new and growing tumors. The patient had undergone multiple prior resections of schwannomas from peripheral nerves. …
Avneesh, Chhabra, Jaishri, Blakely
openaire   +2 more sources

Germline mutation of INI1/SMARCB1 in familial schwannomatosis. [PDF]

, 2007
Item does not contain fulltextPatients with schwannomatosis develop multiple schwannomas but no vestibular schwannomas diagnostic of neurofibromatosis type 2.
Plomp, Astrid S., Wesseling, Pieter, Plomp, A.S., Robanus-Maandag, E.C., Hulsebos, Theo J. M., Wesseling, P., Wolterman, Ruud A., Baas, Frank, Hulsebos, Theo J.M., Baas, F., Robanus-Maandag, Els C., Hulsebos, T.J.M., Wolterman, R.A.   +12 more
core   +1 more source

Exploring the complexity of Schwannomatosis: the role of LZTR1 and the molecular framework of schwannomatosis-associated schwannomas

, 2020
Schwannomatosis (SCH) predisposes to multiple schwannomas, caused by mutations in two genes on 22q: SMARCB1 and LZTR1. A 4-hit mechanism, involving SMARCB1, LZTR1 and NF2, brings to development of SCH-related tumors. SMARCB1 shows a clearly define role
Paganini, Irene
core   +1 more source

Optic nerve sheath diameter measurements monitor the impact of venous sinus stenosis and surgery on intracranial pressure in NF2 meningioma patients

Scientific Reports
The study aimed to evaluate intracranial pressure (ICP) in NF2-associated meningiomas using perioperative optic nerve sheath diameter (ONSD) measurements.
Julian Zipfel, Mykola Gorbachuk, Florian Grimm, Ulrike Ernemann, Martin Ulrich Schuhmann, Marcos Tatagiba, Isabel Gugel   +6 more
doaj   +1 more source

Nerve Enlargement in Patients with INF2 Variants Causing Peripheral Neuropathy and Focal Segmental Glomerulosclerosis

Biomedicines
Background: Charcot–Marie–Tooth (CMT) disease is an inherited peripheral neuropathy primarily involving motor and sensory neurons. Mutations in INF2, an actin assembly factor, cause two diseases: peripheral neuropathy CMT-DIE (MIM614455) and/or focal ...
Quynh Tran Thuy Huong, Linh Tran Nguyen Truc, Hiroko Ueda, Kenji Fukui, Koichiro Higasa, Yoshinori Sato, Shinichi Takeda, Motoshi Hattori, Hiroyasu Tsukaguchi   +8 more
doaj   +1 more source

Multiple spinal schwannomas in absence of neurofibromatosis (Schwannomatosis) – A rare condition: Review with case report

Indian Spine Journal, 2019
Schwannomas are benign, slow-growing tumors originating from sensory rootlets. Schwannomatosis is a distinct clinical syndrome characterized by the presence of multiple schwannomas in the spine with the absence of typical features suggestive of either ...
Sandeep Bhardwaj, Kunj Bihari Saraswat, Amit Pratap Singh Deora, Ashok Gupta   +3 more
doaj   +1 more source

Cancer‐related pain: A bidirectional modulator of cancer progression

Clinical and Translational Medicine, Volume 16, Issue 9, September 2026.
CRP and tumour progression engage in a dynamic, bidirectional circuit mediated by multiple mechanisms involving neuroimmunology and cancer ‐neuroscience. Analgesic interventions may affect tumour progression, while anticancer therapies can influence pain. Targeting pain in cancer may have promising therapeutic value in cancer progression.
Junzhe He, Yu Zhang, Qian Liu, Biao Yan, Peiwei Chai, Renbing Jia   +5 more
wiley   +1 more source

Comparison of 1D and 3D volume measurement techniques in NF2-associated vestibular schwannoma monitoring

Scientific Reports
To compare 1D (linear) tumor volume calculations and classification systems with 3D-segmented volumetric analysis (SVA), focusing specifically on their effectiveness in the evaluation and management of NF2-associated vestibular schwannomas (VS).
Isabel Gugel, Nuran Aboutaha, Bianca Pfluegler, Ulrike Ernemann, Martin Ulrich Schuhmann, Marcos Tatagiba, Florian Grimm   +6 more
doaj   +1 more source

Spinal Schwannomatosis

JBNC - JORNAL BRASILEIRO DE NEUROCIRURGIA, 2018
Schwannomatosis is a rare tumor syndrome characterized by more than one schwannoma without any evidence of other manifestations of neurofibromatosis (NF). A 32-year-old woman was admitted to our hospital because of weakness in her lower extremities. Neurological examination revealed paraparesis with hypoesthesia below T8 level.
Maurus Marques de Almeida Holanda, Daniel De Araujo Paz, Luiz Márcio De Brito Marinho Segundo, Christian Diniz Ferreira   +3 more
openaire   +2 more sources