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Gene Therapy for Neurofibromatosis Type 2-Related Schwannomatosis: Recent Progress, Challenges, and Future Directions
Neurofibromatosis type 2 ( NF2 )-related schwannomatosis is a rare autosomal dominant monogenic disorder caused by mutations in the NF2 gene. The...
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Surgical management of sporadic and schwannomatosis-associated pelvic schwannomas
Pelvic schwannomas are rare tumors that may occur either sporadically or in the context of schwannomatosis. We retrospectively reviewed the charts of...
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High-frequency ultrasound imaging findings in the diagnosis of segmental schwannomatosis of the ulnar nerve: case report and literature review
Schwannomatosis is characterized by the development of multiple schwannomas without evidence of vestibular tumors. Segmental schwannomatosis is...
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An unusual finding of an anaplastic meningioma in NF2-related schwannomatosis
NF2-related schwannomatosis (NF2) is a rare autosomal-dominant genetic disorder characterized by bilateral vestibular schwannomas and multiple...
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Managing Multiple Schwannomatosis of Vagus and Hypoglossal Nerves: The Unanticipated Complications
Schwannomas are rare benign tumours of the nerve sheath. Extracranial schwannomas are usually found solitary, in the absence of other features of...
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Simultaneous inhibition of PI3K and PAK in preclinical models of neurofibromatosis type 2-related schwannomatosis
Neurofibromatosis Type 2 (NF2)-related schwannomatosis is a genetic disorder that causes development of multiple types of nervous system tumors. The...
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Natural history of hearing and tumor growth in vestibular schwannoma in neurofibromatosis type 2-related schwannomatosis
ObjectivesTo determine the natural history of hearing loss and tumor volume in patients with untreated neurofibromatosis type 2 (NF2)-related...
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Multidisciplinary neurofibromatosis conference in the management of patients with neurofibromatosis type 1 and schwannomatosis in a single tertiary care institution
ObjectiveTo evaluate the role of weekly neurofibromatosis (NF) multi-disciplinary conferences (MDC) on the diagnostic and therapeutic plan for...
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Management of neurofibromatosis type 2 and schwannomatosis associated peripheral and intraspinal schwannomas: influence of surgery, genetics, and localization
IntroductionPeripheral and intraspinal schwannomas are common and clinically complex pathologies in patients with Neurofibromatosis Type 2 (NF2) and...
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Left atrial schwannoma in schwannomatosis: a case report
BackgroundPrimary cardiac schwannoma in the left atrium and schwannomatosis are rare diseases.
Case presentationWe report the case of a 46-year-old...
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A rare case of penile schwannomatosis presenting with painful nocturnal penile tumescence
BackgroundPenile schwannoma is a rare tumor. They commonly present as an asymptomatic, painless and slow growing mass. Other presentations include...
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[18F]FDG Positron emission tomography with whole body magnetic resonance imaging ([18F]FDG-PET/MRI) as a diagnosis tool in Schwannomatosis
Schwannomatosis is a rare autosomal dominant genetic syndrome characterized by the presence of multiple schwannomas. The main symptom is neurogenic...
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Minimal clinically important difference in the World Health Organization Quality of Life Brief (WHOQOL-BREF) for adults with neurofibromatosis
PurposeThis study aimed to estimate minimal clinically important difference (MCID) values for the World Health Organization Quality of Life Brief...
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Epigenomic, genomic, and transcriptomic landscape of schwannomatosis
Schwannomatosis (SWNTS) is a genetic cancer predisposition syndrome that manifests as multiple and often painful neuronal tumors called schwannomas...
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Segmental schwannomatosis: characteristics in 12 patients
BackgroundSegmental schwannomatosis is characterized by multiple schwannomas affecting one-limb or less than 5 contiguous segments of spine. Its...
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Management of Central and Peripheral Nervous System Tumors in Patients with Neurofibromatosis
AbstractNeurofibromatosis type I (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis represent a diverse group of genetic tumor predisposition...
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The impact of a virtual mind-body program on resilience factors among international English-speaking adults with neurofibromatoses: secondary analysis of a randomized clinical trial
PurposeTo test the effects of the Relaxation Response Resiliency Program - Neurofibromatosis (3RP-NF), a mind-body resilience program for people with...
