Pareyson D - Search Results

1

TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations.

Kosmanopoulos G, Donohue JK, Hoke M, Thomas S, Peyton MA, Vo L, Crawford TO, Sadjadi R, Herrmann DN, Yum SW, Reilly MM, Scherer SS, Finkel RS, Lewis RA, Pareyson D, Pisciotta C, Walk D, Shy ME, Sumner CJ; Inherited Neuropathy Consortium; McCray BA. Kosmanopoulos G, et al. Among authors: pareyson d. Brain. 2024 Jun 25:awae201. doi: 10.1093/brain/awae201. Online ahead of print. Brain. 2024. PMID: 38917025

2

Kennedy's disease: clinical and molecular study of two Italian families.

Pareyson D, Castellotti B, Botti S, Defanti CA, Gellera C, Taroni F, Sghirlanzoni A. Pareyson D, et al. Ital J Neurol Sci. 1995 Oct;16(7):467-71. doi: 10.1007/BF02229324. Ital J Neurol Sci. 1995. PMID: 8749704

3

Phenotypic heterogeneity in hereditary neuropathy with liability to pressure palsies associated with chromosome 17p11.2-12 deletion.

Pareyson D, Scaioli V, Taroni F, Botti S, Lorenzetti D, Solari A, Ciano C, Sghirlanzoni A. Pareyson D, et al. Neurology. 1996 Apr;46(4):1133-7. doi: 10.1212/wnl.46.4.1133. Neurology. 1996. PMID: 8780105

4

Deletion of the PMP22 gene and hereditary neuropathy with liability to pressure palsies.

Pareyson D, Taroni F. Pareyson D, et al. Curr Opin Neurol. 1996 Oct;9(5):348-54. doi: 10.1097/00019052-199610000-00006. Curr Opin Neurol. 1996. PMID: 8894410 Review.

5

PMP22 frameshift mutation and hereditary neuropathy with liability to pressure palsies.

Pareyson D, Botti S, Sghirlanzoni A, Taroni F. Pareyson D, et al. Neurology. 1997 Nov;49(5):1478-9. doi: 10.1212/wnl.49.5.1478. Neurology. 1997. PMID: 9371959 No abstract available.

6

Gene dosage effects in hereditary peripheral neuropathy. Expression of peripheral myelin protein 22 in Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies nerve biopsies.

Gabriel JM, Erne B, Pareyson D, Sghirlanzoni A, Taroni F, Steck AJ. Gabriel JM, et al. Among authors: pareyson d. Neurology. 1997 Dec;49(6):1635-40. doi: 10.1212/wnl.49.6.1635. Neurology. 1997. PMID: 9409359

7

Detection of hereditary neuropathy with liability to pressure palsies among patients with acute painless mononeuropathy or plexopathy.

Pareyson D, Solari A, Taroni F, Botti S, Fallica E, Scaioli V, Ciano C, Sghirlanzoni A. Pareyson D, et al. Muscle Nerve. 1998 Dec;21(12):1686-91. doi: 10.1002/(sici)1097-4598(199812)21:12<1686::aid-mus10>3.0.co;2-z. Muscle Nerve. 1998. PMID: 9843070

8

Heterozygous null mutation in the P0 gene associated with mild Charcot-Marie-Tooth disease.

Pareyson D, Menichella D, Botti S, Sghirlanzoni A, Fallica E, Mora M, Ciano C, Shy ME, Taroni F. Pareyson D, et al. Ann N Y Acad Sci. 1999 Sep 14;883:477-80. Ann N Y Acad Sci. 1999. PMID: 10586278 No abstract available.

9

Cranial nerve involvement in CMT disease type 1 due to early growth response 2 gene mutation.

Pareyson D, Taroni F, Botti S, Morbin M, Baratta S, Lauria G, Ciano C, Sghirlanzoni A. Pareyson D, et al. Neurology. 2000 Apr 25;54(8):1696-8. doi: 10.1212/wnl.54.8.1696. Neurology. 2000. PMID: 10762521 Free article.

10

Does CMT1A homozygosity cause more severe disease with root hypertrophy and higher CSF proteins?

Pareyson D, Testa D, Morbin M, Erbetta A, Ciano C, Lauria G, Milani M, Taroni F. Pareyson D, et al. Neurology. 2003 May 27;60(10):1721-2. doi: 10.1212/01.wnl.0000059262.34846.8a. Neurology. 2003. PMID: 12771282 Free article. No abstract available.

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