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Results: 1 to 20 of 54

1.

A novel KIF5A mutation in an Italian family marked by spastic paraparesis and congenital deafness.

Muglia M, Citrigno L, D'Errico E, Magariello A, Distaso E, Gasparro AA, Scarafino A, Patitucci A, Conforti FL, Mazzei R, Cortese R, Tortelli R, L Simone I.

J Neurol Sci. 2014 Jun 5. pii: S0022-510X(14)00367-0. doi: 10.1016/j.jns.2014.05.063. [Epub ahead of print]

PMID:
24939576
[PubMed - as supplied by publisher]
2.

Further evidence that DDHD2 gene mutations cause autosomal recessive hereditary spastic paraplegia with thin corpus callosum.

Magariello A, Citrigno L, Zuchner S, Gonzalez M, Patitucci A, Sofia V, Conforti FL, Pappalardo I, Mazzei R, Ungaro C, Zappia M, Muglia M.

Eur J Neurol. 2014 Mar;21(3):e25-6. doi: 10.1111/ene.12305. No abstract available.

PMID:
24517879
[PubMed - in process]
3.

First mutation in the nuclear localization signal sequence of spastin protein identified in a patient with hereditary spastic paraplegia.

Magariello A, Tortorella C, Patitucci A, Tortelli R, Liguori M, Mazzei R, Conforti FL, Citrigno L, Ungaro C, Simone IL, Muglia M.

Eur J Neurol. 2013 Jan;20(1):e22-3. doi: 10.1111/ene.12000. No abstract available.

PMID:
23279441
[PubMed - indexed for MEDLINE]
4.

Ataxin-1 and ataxin-2 intermediate-length PolyQ expansions in amyotrophic lateral sclerosis.

Conforti FL, Spataro R, Sproviero W, Mazzei R, Cavalcanti F, Condino F, Simone IL, Logroscino G, Patitucci A, Magariello A, Muglia M, Rodolico C, Valentino P, Bono F, Colletti T, Monsurrò MR, Gambardella A, La Bella V.

Neurology. 2012 Dec 11;79(24):2315-20. doi: 10.1212/WNL.0b013e318278b618. Epub 2012 Nov 28.

PMID:
23197749
[PubMed - indexed for MEDLINE]
5.

The p.Arg416Cys mutation in SPG3a gene associated with a pure form of spastic paraplegia.

Magariello A, Tortorella C, Citrigno L, Patitucci A, Tortelli R, Mazzei R, Conforti FL, Ungaro C, Sproviero W, Gambardella A, Muglia M.

Muscle Nerve. 2012 Jun;45(6):919-20. doi: 10.1002/mus.23360. No abstract available.

PMID:
22581552
[PubMed - indexed for MEDLINE]
6.

FUS mutations in sporadic amyotrophic lateral sclerosis: clinical and genetic analysis.

Sproviero W, La Bella V, Mazzei R, Valentino P, Rodolico C, Simone IL, Logroscino G, Ungaro C, Magariello A, Patitucci A, Tedeschi G, Spataro R, Condino F, Bono F, Citrigno L, Monsurrò MR, Muglia M, Gambardella A, Quattrone A, Conforti FL.

Neurobiol Aging. 2012 Apr;33(4):837.e1-5. doi: 10.1016/j.neurobiolaging.2011.10.005. Epub 2011 Nov 4.

PMID:
22055719
[PubMed - indexed for MEDLINE]
7.

TARDBP gene mutations in south Italian patients with amyotrophic lateral sclerosis.

Conforti FL, Sproviero W, Simone IL, Mazzei R, Valentino P, Ungaro C, Magariello A, Patitucci A, La Bella V, Sprovieri T, Tedeschi G, Citrigno L, Gabriele AL, Bono F, Monsurrò MR, Muglia M, Gambardella A, Quattrone A.

J Neurol Neurosurg Psychiatry. 2011 May;82(5):587-8. doi: 10.1136/jnnp.2009.198309. Epub 2010 Oct 19. No abstract available.

PMID:
20959352
[PubMed - indexed for MEDLINE]
8.

A novel NF1 gene mutation in an Italian family with neurofibromatosis type 1.

Gabriele AL, Ruggieri M, Patitucci A, Magariello A, Conforti FL, Mazzei R, Muglia M, Ungaro C, Di Palma G, Citrigno L, Sproviero W, Gambardella A, Quattrone A.

Childs Nerv Syst. 2011 Apr;27(4):635-8. doi: 10.1007/s00381-010-1282-z. Epub 2010 Oct 7.

PMID:
20927530
[PubMed - indexed for MEDLINE]
9.

Mutation analysis of the SPG4 gene in Italian patients with pure and complicated forms of spastic paraplegia.

Magariello A, Muglia M, Patitucci A, Ungaro C, Mazzei R, Gabriele AL, Sprovieri T, Citrigno L, Conforti FL, Liguori M, Gambardella A, Bono F, Piccoli T, Patti F, Zappia M, Mancuso M, Iemolo F, Quattrone A.

J Neurol Sci. 2010 Jan 15;288(1-2):96-100. doi: 10.1016/j.jns.2009.09.025. Epub 2009 Oct 28.

PMID:
19875132
[PubMed - indexed for MEDLINE]
10.

An axon regeneration signature in a Charcot-Marie-Tooth disease type 2 patient.

Cavalcanti F, Kidd T, Patitucci A, Valentino P, Bono F, Nisticò R, Quattrone A.

J Neurogenet. 2009;23(3):324-8. doi: 10.1080/01677060802447585.

PMID:
19657941
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

A novel founder mutation in the MFN2 gene associated with variable Charcot-Marie-Tooth type 2 phenotype in two families from Southern Italy.

Muglia M, Vazza G, Patitucci A, Milani M, Pareyson D, Taroni F, Quattrone A, Mostacciuolo ML.

BMJ Case Rep. 2009;2009. pii: bcr08.2008.0652. doi: 10.1136/bcr.08.2008.0652. Epub 2009 Jan 23.

PMID:
21686698
[PubMed]
Free PMC Article
12.

A longitudinal observation of brain-derived neurotrophic factor mRNA levels in patients with relapsing-remitting multiple sclerosis.

Liguori M, Fera F, Patitucci A, Manna I, Condino F, Valentino P, Telarico P, Cerasa A, Gioia MC, di Palma G, Quattrone A.

Brain Res. 2009 Feb 23;1256:123-8. doi: 10.1016/j.brainres.2008.11.047. Epub 2008 Nov 25.

PMID:
19071096
[PubMed - indexed for MEDLINE]
13.

CADASIL: extended polymorphisms and mutational analysis of the NOTCH3 gene.

Ungaro C, Mazzei R, Conforti FL, Sprovieri T, Servillo P, Liguori M, Citrigno L, Gabriele AL, Magariello A, Patitucci A, Muglia M, Quattrone A.

J Neurosci Res. 2009 Apr;87(5):1162-7. doi: 10.1002/jnr.21935.

PMID:
19006080
[PubMed - indexed for MEDLINE]
14.

Charcot-Marie-Tooth type X: unusual phenotype of a novel CX32 mutation.

Mazzeo A, Di Leo R, Toscano A, Muglia M, Patitucci A, Messina C, Vita G.

Eur J Neurol. 2008 Oct;15(10):1140-2. doi: 10.1111/j.1468-1331.2008.02263.x. Epub 2008 Aug 20.

PMID:
18717720
[PubMed - indexed for MEDLINE]
15.

Further evidence that D90A-SOD1 mutation is recessively inherited in ALS patients in Italy.

Luisa Conforti F, Sprovieri T, Mazzei R, Patitucci A, Ungaro C, Zoccolella S, Magariello A, Bella VL, Tessitore A, Tedeschi G, Simone IL, Majorana G, Valentino P, Citrigno L, Gabriele A, Bono F, Monsurrò MR, Muglia M, Quattrone A.

Amyotroph Lateral Scler. 2009 Feb;10(1):58-60. doi: 10.1080/17482960802163853.

PMID:
18608106
[PubMed - indexed for MEDLINE]
16.

Charcot-Marie-Tooth disease type 1B: marked phenotypic variation of the Ser78Leu mutation in five Italian families.

Mazzeo A, Muglia M, Rodolico C, Toscano A, Patitucci A, Quattrone A, Messina C, Vita G.

Acta Neurol Scand. 2008 Nov;118(5):328-32. doi: 10.1111/j.1600-0404.2008.01021.x. Epub 2008 Apr 12.

PMID:
18422810
[PubMed - indexed for MEDLINE]
17.

A novel locus for dHMN with pyramidal features maps to chromosome 4q34.3-q35.2.

Muglia M, Magariello A, Citrigno L, Passamonti L, Sprovieri T, Conforti FL, Mazzei R, Patitucci A, Gabriele AL, Ungaro C, Bellesi M, Quattrone A.

Clin Genet. 2008 May;73(5):486-91. doi: 10.1111/j.1399-0004.2008.00969.x. Epub 2008 Mar 11.

PMID:
18336586
[PubMed - indexed for MEDLINE]
18.

A novel founder mutation in the MFN2 gene associated with variable Charcot-Marie-Tooth type 2 phenotype in two families from Southern Italy.

Muglia M, Vazza G, Patitucci A, Milani M, Pareyson D, Taroni F, Quattrone A, Mostacciuolo ML.

J Neurol Neurosurg Psychiatry. 2007 Nov;78(11):1286-7. No abstract available.

PMID:
17940179
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

First evidence of a pathogenic insertion in the NOTCH3 gene causing CADASIL.

Mazzei R, Guidetti D, Ungaro C, Conforti FL, Muglia M, Cenacchi G, Lanza PL, Patitucci A, Sprovieri T, Riguzzi P, Magariello A, Gabriele AL, Citrigno L, Preda P, Quattrone A.

J Neurol Neurosurg Psychiatry. 2008 Jan;79(1):108-10. Epub 2007 Sep 14. No abstract available.

PMID:
17872982
[PubMed - indexed for MEDLINE]
20.

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.

Brain Dev. 2008 Apr;30(4):291-4. Epub 2007 Sep 4.

PMID:
17768021
[PubMed - indexed for MEDLINE]

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