Distinctive low epidermal nerve fiber density in schwannomatosis patients provides a major parameter for diagnosis and differential diagnosis
暂无分享,去创建一个
L. Kluwe | R. Friedrich | V. Mautner | J. Weis | S. Farschtschi | M. Glatzel | C. Hagel | J. Matschke | G. Schön
[1] S. Heiland,et al. Dorsal root ganglia volume differentiates schwannomatosis and neurofibromatosis 2 , 2018, Annals of neurology.
[2] K. Gripp,et al. Constitutional LZTR1 mutation presenting with a unilateral vestibular schwannoma in a teenager , 2017, Clinical genetics.
[3] D. Evans,et al. Revisiting neurofibromatosis type 2 diagnostic criteria to exclude LZTR1-related schwannomatosis , 2017, Neurology.
[4] D. Cooper,et al. The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis , 2016, Human Genetics.
[5] David T. W. Jones,et al. Multifocal nerve lesions and LZTR1 germline mutations in segmental schwannomatosis , 2016, Annals of neurology.
[6] Whole exome sequencing reveals that the majority of schwannomatosis cases remain unexplained after excluding SMARCB1 and LZTR1 germline variants , 2014, Acta Neuropathologica.
[7] A. Stemmer-Rachamimov,et al. Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria , 2013, American journal of medical genetics. Part A.
[8] A. Stemmer-Rachamimov,et al. Clinical features of schwannomatosis: a retrospective analysis of 87 patients. , 2012, The oncologist.
[9] C. Schmitz,et al. Intraepidermal nerve fiber density at the distal leg: a worldwide normative reference study , 2010, Journal of the peripheral nervous system : JPNS.
[10] J. Valls-Solé,et al. European Federation of Neurological Societies/Peripheral Nerve Society Guideline on the use of skin biopsy in the diagnosis of small fiber neuropathy. Report of a joint task force of the European Fe‐deration of Neurological Societies and the Peripheral Nerve Society , 2010, European journal of neurology.
[11] M. Nolano,et al. European Federation of Neurological Societies/Peripheral Nerve Society Guideline on the use of skin biopsy in the diagnosis of small fiber neuropathy. Report of a joint task force of the European Federation of Neurological Societies and the Peripheral Nerve Society , 2010, Journal of the peripheral nervous system : JPNS.
[12] D. Evans,et al. Mosaicism in neurofibromatosis type 2: an update of risk based on uni/bilaterality of vestibular schwannoma at presentation and sensitive mutation analysis including multiple ligation-dependent probe amplification , 2007, Journal of Medical Genetics.
[13] E. A. Chiocca,et al. Diagnostic criteria for schwannomatosis , 2005, Neurology.
[14] S. Purcell,et al. Somatic mosaicism in neurofibromatosis 2: prevalence and risk of disease transmission to offspring , 2003, Journal of medical genetics.
[15] L. Kluwe,et al. Molecular study of frequency of mosaicism in neurofibromatosis 2 patients with bilateral vestibular schwannomas , 2003, Journal of medical genetics.
[16] B. Korf,et al. The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. , 1997, Journal of the American Medical Association (JAMA).