Patitucci A - Search Results

1

Motor-sensory neuropathy with minifascicle formation in a woman with normal karyotype.

Malandrini A, Gambelli S, Muglia M, Berti G, Patitucci A, Sugie K, Umehara F, Quattrone A, Dotti MT, Federico A. Malandrini A, et al. Among authors: patitucci a. Neurology. 2005 Sep 13;65(5):776. doi: 10.1212/01.wnl.0000174516.41417.b9. Neurology. 2005. PMID: 16157924 No abstract available.

2

Motor-sensory neuropathy without minifascicles in a patient with 46XY gonadal dysgenesis.

Malandrini A, Gambelli S, Muglia M, Berti G, Gaudiano C, Patitucci A, Sugie K, Umehara F, Quattrone A, Dotti MT, Federico A. Malandrini A, et al. Among authors: patitucci a. Brain Dev. 2008 Apr;30(4):291-4. doi: 10.1016/j.braindev.2007.07.010. Epub 2007 Sep 4. Brain Dev. 2008. PMID: 17768021

3

Clinical and genetic study of a large Charcot-Marie-Tooth type 2A family from southern Italy.

Muglia M, Zappia M, Timmerman V, Valentino P, Gabriele AL, Conforti FL, De Jonghe P, Ragno M, Mazzei R, Sabatelli M, Nicoletti G, Patitucci AM, Oliveri RL, Bono F, Gambardella A, Quattrone A. Muglia M, et al. Among authors: patitucci am. Neurology. 2001 Jan 9;56(1):100-3. doi: 10.1212/wnl.56.1.100. Neurology. 2001. PMID: 11148244

4

Juvenile Huntington's disease presenting as progressive myoclonic epilepsy.

Gambardella A, Muglia M, Labate A, Magariello A, Gabriele AL, Mazzei R, Pirritano D, Conforti FL, Patitucci A, Valentino P, Zappia M, Quattrone A. Gambardella A, et al. Among authors: patitucci a. Neurology. 2001 Aug 28;57(4):708-11. doi: 10.1212/wnl.57.4.708. Neurology. 2001. PMID: 11524486

5

A new SBF2 mutation in a family with recessive demyelinating Charcot-Marie-Tooth (CMT4B2).

Conforti FL, Muglia M, Mazzei R, Patitucci A, Valentino P, Magariello A, Sprovieri T, Bono F, Bergmann C, Gabriele AL, Peluso G, Nisticò R, Senderek J, Quattrone A. Conforti FL, et al. Among authors: patitucci a. Neurology. 2004 Oct 12;63(7):1327-8. doi: 10.1212/01.wnl.0000140617.02312.80. Neurology. 2004. PMID: 15477569 No abstract available.

6

Brachial amyotrophic diplegia associated with a novel SOD1 mutation (L106P).

Valentino P, Conforti FL, Pirritano D, Nisticò R, Mazzei R, Patitucci A, Sprovieri T, Gabriele AL, Muglia M, Clodomiro A, Gambardella A, Zappia M, Quattrone A. Valentino P, et al. Among authors: patitucci a. Neurology. 2005 Apr 26;64(8):1477-8. doi: 10.1212/01.WNL.0000158679.47281.03. Neurology. 2005. PMID: 15851752 No abstract available.

7

A novel mutation in the CLN1 gene in a patient with juvenile neuronal ceroid lipofuscinosis.

Mazzei R, Conforti FL, Magariello A, Bravaccio C, Militerni R, Gabriele AL, Sampaolo S, Patitucci A, Di Iorio G, Muglia M, Quattrone A. Mazzei R, et al. Among authors: patitucci a. J Neurol. 2002 Oct;249(10):1398-400. doi: 10.1007/s00415-002-0849-3. J Neurol. 2002. PMID: 12382155

8

A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3.

Muglia M, Magariello A, Nicoletti G, Patitucci A, Gabriele AL, Conforti FL, Mazzei R, Caracciolo M, Casari G, Ardito B, Lastilla M, Gambardella A, Quattrone A. Muglia M, et al. Among authors: patitucci a. J Neurol. 2002 Oct;249(10):1413-6. doi: 10.1007/s00415-002-0856-4. J Neurol. 2002. PMID: 12382159

9

A simple method for diagnosis of autosomal recessive spinal muscular atrophy by denaturing high-performance liquid chromatography.

Mazzei R, Conforti FL, Muglia M, Sprovieri T, Patitucci A, Magariello A, Gabriele AL, Quattrone A. Mazzei R, et al. Among authors: patitucci a. J Child Neurol. 2003 Apr;18(4):269-71. doi: 10.1177/08830738030180041301. J Child Neurol. 2003. PMID: 12760430

10

A novel mutation in the Notch3 gene in an Italian family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: genetic and magnetic resonance spectroscopic findings.

Oliveri RL, Muglia M, De Stefano N, Mazzei R, Labate A, Conforti FL, Patitucci A, Gabriele AL, Tagarelli G, Magariello A, Zappia M, Gambardella A, Federico A, Quattrone A. Oliveri RL, et al. Among authors: patitucci a. Arch Neurol. 2001 Sep;58(9):1418-22. doi: 10.1001/archneur.58.9.1418. Arch Neurol. 2001. PMID: 11559313

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