Sghirlanzoni A - Search Results

1

Charcot-Marie-Tooth disease type 2 and P0 gene mutations.

Pareyson D, Sghirlanzoni A, Bolti S, Ciano C, Fallica E, Mora M, Taroni F. Pareyson D, et al. Among authors: sghirlanzoni a. Neurology. 1999 Mar 23;52(5):1110-1. doi: 10.1212/wnl.52.5.1106-f. Neurology. 1999. PMID: 10102454 No abstract available.

2

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: sghirlanzoni a. Neurology. 1997 Dec;49(6):1635-40. doi: 10.1212/wnl.49.6.1635. Neurology. 1997. PMID: 9409359

3

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. Among authors: sghirlanzoni a. Ann N Y Acad Sci. 1999 Sep 14;883:477-80. Ann N Y Acad Sci. 1999. PMID: 10586278 No abstract available.

4

Conduction velocities in Charcot-Marie-Tooth polyneuropathy type 1.

Pareyson D, Sghirlanzoni A. Pareyson D, et al. Among authors: sghirlanzoni a. Neurology. 1994 Nov;44(11):2216. doi: 10.1212/wnl.44.11.2216. Neurology. 1994. PMID: 7969998 No abstract available.

5

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. Among authors: sghirlanzoni a. Neurology. 1996 Apr;46(4):1133-7. doi: 10.1212/wnl.46.4.1133. Neurology. 1996. PMID: 8780105

6

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. Among authors: sghirlanzoni a. Neurology. 2000 Apr 25;54(8):1696-8. doi: 10.1212/wnl.54.8.1696. Neurology. 2000. PMID: 10762521 Free article.

7

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: sghirlanzoni a. Eur Neurol. 1994;34(3):135-9. doi: 10.1159/000117026. Eur Neurol. 1994. PMID: 8033938

8

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

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

9

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. Among authors: sghirlanzoni a. Ann N Y Acad Sci. 1999 Oct;883(1):477-480. doi: 10.1111/j.1749-6632.1999.tb08615.x. Ann N Y Acad Sci. 1999. PMID: 29086956 No abstract available.

10

Unrecognized Charcot-Marie-Tooth disease: diagnostic difficulties in the assessment of recovery from paralysis.

Fiacchino F, Grandi L, Ciano C, Sghirlanzoni A. Fiacchino F, et al. Among authors: sghirlanzoni a. Anesth Analg. 1995 Jul;81(1):199-201. doi: 10.1097/00000539-199507000-00043. Anesth Analg. 1995. PMID: 7598259 No abstract available.

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