Muglia M - Search Results

1

Autosomal Recessive Hereditary Motor and Sensory Neuropathy with Focally Folded Myelin Sheaths (CMT4B).

Gambardella A, Bono F, Muglia M, Valentino P, Quattrone A. Gambardella A, et al. Among authors: muglia m. Ann N Y Acad Sci. 1999 Oct;883(1):47-55. doi: 10.1111/j.1749-6632.1999.tb08566.x. Ann N Y Acad Sci. 1999. PMID: 29086986

2

Genetic heterogeneity in autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths (CMT4B).

Gambardella A, Bolino A, Muglia M, Valentino P, Bono F, Oliveri RL, Sabatelli M, Brancolini V, Van Broeckhoven C, Romeo G, Devoto M, Quattrone A. Gambardella A, et al. Among authors: muglia m. Neurology. 1998 Mar;50(3):799-801. doi: 10.1212/wnl.50.3.799. Neurology. 1998. PMID: 9521281

3

Autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths (CMT4B).

Gambardella A, Bono F, Muglia M, Valentino P, Quattrone A. Gambardella A, et al. Among authors: muglia m. Ann N Y Acad Sci. 1999 Sep 14;883:47-55. Ann N Y Acad Sci. 1999. PMID: 10586229

4

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. Neurology. 2001 Jan 9;56(1):100-3. doi: 10.1212/wnl.56.1.100. Neurology. 2001. PMID: 11148244

5

Narrowing of the critical region in autosomal recessive spastic paraplegia linked to the SPG5 locus.

Muglia M, Criscuolo C, Magariello A, De Michele G, Scarano V, D'Adamo P, Ambrosio G, Gabriele AL, Patitucci A, Mazzei R, Conforti FL, Sprovieri T, Morgante L, Epifanio A, La Spina P, Valentino P, Gasparini P, Filla A, Quattrone A. Muglia M, et al. Neurogenetics. 2004 Feb;5(1):49-54. doi: 10.1007/s10048-003-0167-7. Epub 2003 Dec 5. Neurogenetics. 2004. PMID: 14658060

6

Gene conversion events in adult-onset spinal muscular atrophy.

Mazzei R, Gambardella A, Conforti FL, Magariello A, Patitucci A, Gabriele AL, Sprovieri T, Labate A, Valentino P, Bono F, Bonavita S, Zappia M, Muglia M, Quattrone A. Mazzei R, et al. Among authors: muglia m. Acta Neurol Scand. 2004 Feb;109(2):151-4. doi: 10.1034/j.1600-0404.2003.00181.x. Acta Neurol Scand. 2004. PMID: 14705979

7

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: muglia m. Neurology. 2001 Aug 28;57(4):708-11. doi: 10.1212/wnl.57.4.708. Neurology. 2001. PMID: 11524486

8

A novel Notch3 gene mutation not involving a cysteine residue in an Italian family with CADASIL.

Mazzei R, Conforti FL, Lanza PL, Sprovieri T, Lupo MR, Gallo O, Patitucci A, Magariello A, Caracciolo M, Gabriele AL, Fera F, Valentino P, Bono F, Cenacchi G, Santoro G, Muglia M, Quattrone A. Mazzei R, et al. Among authors: muglia m. Neurology. 2004 Aug 10;63(3):561-4. doi: 10.1212/01.wnl.0000133399.37716.84. Neurology. 2004. PMID: 15304596

9

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: muglia m. Neurology. 2004 Oct 12;63(7):1327-8. doi: 10.1212/01.wnl.0000140617.02312.80. Neurology. 2004. PMID: 15477569 No abstract available.

10

Identification of a new polymorphism (c134G>A) in the exon 2 of the myelin protein zero gene.

Muglia M, Toscano A, Gabriele AL, Magariello A, Patitucci A, Conforti FL, Mazzei R, Rodolico C, Gambardella A, Quattrone A. Muglia M, et al. Hum Mutat. 2000 Mar;15(3):299. doi: 10.1002/(SICI)1098-1004(200003)15:3<299::AID-HUMU24>3.0.CO;2-Z. Hum Mutat. 2000. PMID: 10679959 No abstract available.

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