Quattrone A - Search Results

1

Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22.

Bolino A, Levy ER, Muglia M, Conforti FL, LeGuern E, Salih MA, Georgiou DM, Christodoulou RK, Hausmanowa-Petrusewicz I, Mandich P, Gambardella A, Quattrone A, Devoto M, Monaco AP. Bolino A, et al. Among authors: quattrone a. Genomics. 2000 Jan 15;63(2):271-8. doi: 10.1006/geno.1999.6088. Genomics. 2000. PMID: 10673338

2

Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.

Bolino A, Muglia M, Conforti FL, LeGuern E, Salih MA, Georgiou DM, Christodoulou K, Hausmanowa-Petrusewicz I, Mandich P, Schenone A, Gambardella A, Bono F, Quattrone A, Devoto M, Monaco AP. Bolino A, et al. Among authors: quattrone a. Nat Genet. 2000 May;25(1):17-9. doi: 10.1038/75542. Nat Genet. 2000. PMID: 10802647

3

Localization of a gene responsible for autosomal recessive demyelinating neuropathy with focally folded myelin sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharing.

Bolino A, Brancolini V, Bono F, Bruni A, Gambardella A, Romeo G, Quattrone A, Devoto M. Bolino A, et al. Among authors: quattrone a. Hum Mol Genet. 1996 Jul;5(7):1051-4. doi: 10.1093/hmg/5.7.1051. Hum Mol Genet. 1996. PMID: 8817346

4

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: quattrone a. Neurology. 1998 Mar;50(3):799-801. doi: 10.1212/wnl.50.3.799. Neurology. 1998. PMID: 9521281

5

Exclusion of the SCN2B gene as candidate for CMT4B.

Bolino A, Seri M, Caroli F, Eubanks J, Srinivasan J, Mandich P, Schenone A, Quattrone A, Romeo G, Catterall WA, Devoto M. Bolino A, et al. Among authors: quattrone a. Eur J Hum Genet. 1998 Nov-Dec;6(6):629-34. doi: 10.1038/sj.ejhg.5200220. Eur J Hum Genet. 1998. PMID: 9887383

6

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: quattrone a. Ann N Y Acad Sci. 1999 Sep 14;883:47-55. Ann N Y Acad Sci. 1999. PMID: 10586229

7

Hereditary demyelinating neuropathy of infancy: a genetically complex syndrome.

Gambardella A, Muglia M, Quattrone A. Gambardella A, et al. Among authors: quattrone a. Brain. 1997 Nov;120 ( Pt 11):2113-5. doi: 10.1093/brain/120.11.2113. Brain. 1997. PMID: 9397025 No abstract available.

8

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

9

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. Muglia M, et al. Among authors: quattrone a. Clin Genet. 2008 May;73(5):486-91. doi: 10.1111/j.1399-0004.2008.00969.x. Epub 2008 Mar 11. Clin Genet. 2008. PMID: 18336586

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. Among authors: quattrone a. 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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