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Reliability of functional outcome measures in adults with neurofibromatosis 2 [PDF]
SAGE Open Medicine, 2022 Objective: To determine inter- and intra-rater reliability of functional performance outcome measures in people with neurofibromatosis 2. To ascertain how closely objective and subjective measures align. Methods: Twenty-nine people with neurofibromatosis
Rebecca Louise Mullin +4 more
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Medical Journal of Dr. D.Y. Patil University, 2015 Neurofibromatosis 2 is a rare autosomal dominant neurocutaneous disorder classically characterized by bilateral acoustic schwannomas. Multiple other central, as well as peripheral central nervous system neoplasms as meningiomas and ependymomas, are also ...
Abhijit M Patil +3 more
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Neurofibromatosis 1 and 2 [PDF]
Brain Pathology, 1997 Neurofibromatosis (NF) 1 and 2 are multisystem disorders associated with a variety of neoplastic and non‐neoplastic manifestations that typically progress in severity during the lifetime of the affected patient. The importance of appropriately diagnosing these disorders stems from the fact that the natural history of an associated neoplasm, such as a ...
Ian F. Pollack, Jonn J. Mulvihill
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A case of neurofibromatosis type 1 with neurofibromatosis type 1-related and neurofibromatosis type 1-unrelated tumors: a case report [PDF]
Journal of Medical Case ReportsBackground Neurofibromatosis type 1 is an autosomal dominantly inherited disorder caused by pathogenic variants in the neurofibromatosis type 1 gene, resulting in a predisposition to multiple tumors.
Tabea I. Hartung +3 more
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Diffuse Meningiomatosis without Neurofibromatosis: A Rare Diagnosis with Atypical Presentation
Indian Journal of Radiology and Imaging, 2021 Meningiomas are amongst the most common neoplasms of the central nervous system; however, “multiple meningiomas” or “meningiomatosis” account for
Smily Sharma, Pankaj Sharma, Amit Kumar
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Case report of selumetinib as a novel therapy in a neurofibromatosis type 2-associated ependymoma
Molecular Therapy: Methods & Clinical Development, 2023 We report partial response (PR) to novel therapy with selumetinib in a patient with neurofibromatosis type 2 (NF2). A 25-year-old male presented with bilateral vestibular schwannomas, spinal cord intramedullary ependymomas, cranial and spinal meningiomas,
Nigel Blackwood +2 more
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Third nerve palsy as a presenting feature of neurofibromatosis 2 – A case report
TNOA Journal of Ophthalmic Science and Research, 2023 Neurofibromatosis 2 is an inheritable disorder characterized by bilateral vestibular nerve schwannomas. The usual presentation of such patients is hearing loss and difficulties with balancing.
Hennaav K Dhillon +2 more
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Recent advance on the treatment of neurofibromatosis type 2 ⁃ associated vestibular schwannoma
Chinese Journal of Contemporary Neurology and Neurosurgery, 2022 Neurofibromatosis type 2 (NF2) is an autosomal dominant inherited diseases. NF2 patients suffer a high mortality and disability rate. Bilateral vestibular schwannoma play an important role in its diagnosis and treatment. The balance of treatment and life
YANG Zhi⁃jun, LIU Pi⁃nan
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Medical Journal of Dr. D.Y. Patil Vidyapeeth, 2020 Neurofibromatosis type 2 (NF-2) is a rare autosomal dominant disorder characterized by multiple neoplasms which include meningiomas, schwannomas, and ependymomas. The most common tumors associated with NF-2 are bilateral vestibular schwannomas. We report
Amit Kharat +3 more
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Neurofibromatosis type 2 [PDF]
Neurology, 2007 A 45-year-old woman developed a gradual onset of sensorineural hearing loss in the left ear in 1984. Head CT scan with contrast demonstrated bilateral cerebellopontine angle (CPA) enhancing masses. She underwent a resection of the left CPA tumor with pathology confirming schwannoma. …
S, Sathornsumetee +4 more
openaire +2 more sources