Santoro L - Search Results

1

A new POLG1 mutation with peo and severe axonal and demyelinating sensory-motor neuropathy.

Santoro L, Manganelli F, Lanzillo R, Tessa A, Barbieri F, Pierelli F, Di Giacinto G, Nigro V, Santorelli FM. Santoro L, et al. J Neurol. 2006 Jul;253(7):869-74. doi: 10.1007/s00415-006-0082-6. Epub 2006 May 24. J Neurol. 2006. PMID: 16715201

2

A novel mutation of myelin protein zero associated with an axonal form of Charcot-Marie-Tooth disease.

Santoro L, Manganelli F, Di Maria E, Bordo D, Cassandrini D, Ajmar F, Mandich P, Bellone E. Santoro L, et al. J Neurol Neurosurg Psychiatry. 2004 Feb;75(2):262-5. J Neurol Neurosurg Psychiatry. 2004. PMID: 14742601 Free PMC article.

3

A second family with hereditary motor and sensory neuropathy with deafness, mental retardation and absence of large myelinated fibres, detected in the same geographic area as the first family.

Santoro L, Barbieri F, Crisci C, Gasparo Rippa P, Manganelli F. Santoro L, et al. J Neurol. 1998 Apr;245(4):240-4. doi: 10.1007/s004150050213. J Neurol. 1998. PMID: 9591228 No abstract available.

4

A novel SURF1 mutation results in Leigh syndrome with peripheral neuropathy caused by cytochrome c oxidase deficiency.

Santoro L, Carrozzo R, Malandrini A, Piemonte F, Patrono C, Villanova M, Tessa A, Palmeri S, Bertini E, Santorelli FM. Santoro L, et al. Neuromuscul Disord. 2000 Aug;10(6):450-3. doi: 10.1016/s0960-8966(99)00122-4. Neuromuscul Disord. 2000. PMID: 10899453

5

Adult-onset familial laryngeal abductor paralysis, cerebellar ataxia, and pure motor neuropathy.

Barbieri F, Pellecchia MT, Esposito E, Di Stasio E, Castaldo I, Santorelli F, Perretti A, Santoro L, De Michele G. Barbieri F, et al. Among authors: santoro l. Neurology. 2001 May 22;56(10):1412-4. doi: 10.1212/wnl.56.10.1412. Neurology. 2001. PMID: 11376202

6

Charcot-Marie-Tooth disease type 2C: a distinct genetic entity. Clinical and molecular characterization of the first European family.

Santoro L, Manganelli F, Di Maio L, Barbieri F, Carella M, D'Adamo P, Casari G. Santoro L, et al. Neuromuscul Disord. 2002 May;12(4):399-404. doi: 10.1016/s0960-8966(01)00305-4. Neuromuscul Disord. 2002. PMID: 12062259

7

A novel mutation in SACS gene in a family from southern Italy.

Criscuolo C, Banfi S, Orio M, Gasparini P, Monticelli A, Scarano V, Santorelli FM, Perretti A, Santoro L, De Michele G, Filla A. Criscuolo C, et al. Among authors: santoro l. Neurology. 2004 Jan 13;62(1):100-2. doi: 10.1212/wnl.62.1.100. Neurology. 2004. PMID: 14718706 Free article.

8

Prevalence and characteristics of peripheral neuropathy in hepatitis C virus population.

Santoro L, Manganelli F, Briani C, Giannini F, Benedetti L, Vitelli E, Mazzeo A, Beghi E; HCV Peripheral Nerve Study Group. Santoro L, et al. J Neurol Neurosurg Psychiatry. 2006 May;77(5):626-9. doi: 10.1136/jnnp.2005.081570. Epub 2006 Feb 7. J Neurol Neurosurg Psychiatry. 2006. PMID: 16464900 Free PMC article.

9

A family with tomaculous neuropathy mimicking Charcot-Marie-Tooth disease.

Barbieri F, Santangelo R, Crisci C, Ragno M, Perretti A, Santoro L. Barbieri F, et al. Among authors: santoro l. Clin Neurol Neurosurg. 1990;92(3):289-94. doi: 10.1016/0303-8467(90)90037-6. Clin Neurol Neurosurg. 1990. PMID: 2171842

10

The distal type of hereditary motor neuropathy. Clinical and neurophysiological report of a dominant case.

De Michele G, Santoro L, Barbieri F, Brescia Morra V, Presta M, Filla A. De Michele G, et al. Among authors: santoro l. Acta Neurol (Napoli). 1990 Aug;12(4):273-7. Acta Neurol (Napoli). 1990. PMID: 2251952 No abstract available.

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