Pareyson D - Search Results

1

Mutations in MYO9B are associated with Charcot-Marie-Tooth disease type 2 neuropathies and isolated optic atrophy.

Cipriani S, Guerrero-Valero M, Tozza S, Zhao E, Vollmer V, Beijer D, Danzi M, Rivellini C, Lazarevic D, Pipitone GB, Grosz BR, Lamperti C, Marzoli SB, Carrera P, Devoto M, Pisciotta C, Pareyson D, Kennerson M, Previtali SC, Zuchner S, Scherer SS, Manganelli F, Bähler M, Bolino A. Cipriani S, et al. Among authors: pareyson d. Eur J Neurol. 2023 Feb;30(2):511-526. doi: 10.1111/ene.15601. Epub 2022 Nov 21. Eur J Neurol. 2023. PMID: 36260368 Free PMC article.

2

HMSN III phenotype due to homozygous expression of a dominant HMSN II gene.

Sghirlanzoni A, Pareyson D, Balestrini MR, Bellone E, Berta E, Ciano C, Mandich P, Marazzi R. Sghirlanzoni A, et al. Among authors: pareyson d. Neurology. 1992 Nov;42(11):2201-4. doi: 10.1212/wnl.42.11.2201. Neurology. 1992. PMID: 1436537

3

17p11.2 duplication is a common finding in sporadic cases of Charcot-Marie-Tooth type 1.

Mancardi GL, Uccelli A, Bellone E, Sghirlanzoni A, Mandich P, Pareyson D, Schenone A, Abbruzzese M, Ajmar F. Mancardi GL, et al. Among authors: pareyson d. Eur Neurol. 1994;34(3):135-9. doi: 10.1159/000117026. Eur Neurol. 1994. PMID: 8033938

4

Diagnosis of hereditary neuropathies in adult patients.

Pareyson D. Pareyson D. J Neurol. 2003 Feb;250(2):148-60. doi: 10.1007/s00415-003-1030-3. J Neurol. 2003. PMID: 12574944 Review.

5

Neurophysiological diagnosis of acquired sensory ganglionopathies.

Lauria G, Pareyson D, Sghirlanzoni A. Lauria G, et al. Among authors: pareyson d. Eur Neurol. 2003;50(3):146-52. doi: 10.1159/000073055. Eur Neurol. 2003. PMID: 14530620

6

Polyneuropathy in POEMS syndrome: role of angiogenic factors in the pathogenesis.

Scarlato M, Previtali SC, Carpo M, Pareyson D, Briani C, Del Bo R, Nobile-Orazio E, Quattrini A, Comi GP. Scarlato M, et al. Among authors: pareyson d. Brain. 2005 Aug;128(Pt 8):1911-20. doi: 10.1093/brain/awh519. Epub 2005 Jun 23. Brain. 2005. PMID: 15975949

7

Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations.

Orthmann-Murphy JL, Salsano E, Abrams CK, Bizzi A, Uziel G, Freidin MM, Lamantea E, Zeviani M, Scherer SS, Pareyson D. Orthmann-Murphy JL, et al. Among authors: pareyson d. Brain. 2009 Feb;132(Pt 2):426-38. doi: 10.1093/brain/awn328. Epub 2008 Dec 4. Brain. 2009. PMID: 19056803 Free PMC article.

8

Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations.

Polke JM, Laurá M, Pareyson D, Taroni F, Milani M, Bergamin G, Gibbons VS, Houlden H, Chamley SC, Blake J, Devile C, Sandford R, Sweeney MG, Davis MB, Reilly MM. Polke JM, et al. Among authors: pareyson d. Neurology. 2011 Jul 12;77(2):168-73. doi: 10.1212/WNL.0b013e3182242d4d. Epub 2011 Jun 29. Neurology. 2011. PMID: 21715711 Free PMC article.

9

Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease.

Murphy SM, Herrmann DN, McDermott MP, Scherer SS, Shy ME, Reilly MM, Pareyson D. Murphy SM, et al. Among authors: pareyson d. J Peripher Nerv Syst. 2011 Sep;16(3):191-8. doi: 10.1111/j.1529-8027.2011.00350.x. J Peripher Nerv Syst. 2011. PMID: 22003934 Free PMC article.

10

Adult-onset leukodystrophies from respiratory chain disorders: do they exist?

Salsano E, Farina L, Lamperti C, Piscosquito G, Salerno F, Morandi L, Carrara F, Lamantea E, Zeviani M, Uziel G, Savoiardo M, Pareyson D. Salsano E, et al. Among authors: pareyson d. J Neurol. 2013 Jun;260(6):1617-23. doi: 10.1007/s00415-013-6844-z. Epub 2013 Jan 29. J Neurol. 2013. PMID: 23358625 Review.

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