Toscano A - Search Results

1

Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrum.

Musumeci O, Thieme A, Claeys KG, Wenninger S, Kley RA, Kuhn M, Lukacs Z, Deschauer M, Gaeta M, Toscano A, Gläser D, Schoser B. Musumeci O, et al. Among authors: toscano a. Neuromuscul Disord. 2015 Sep;25(9):719-24. doi: 10.1016/j.nmd.2015.07.002. Epub 2015 Jul 10. Neuromuscul Disord. 2015. PMID: 26231297

2

Asymptomatic hyperCKemia in a case of Danon disease due to a missense mutation in Lamp-2 gene.

Musumeci O, Rodolico C, Nishino I, Di Guardo G, Migliorato A, Aguennouz M, Mazzeo A, Messina C, Vita G, Toscano A. Musumeci O, et al. Among authors: toscano a. Neuromuscul Disord. 2005 Jun;15(6):409-11. doi: 10.1016/j.nmd.2005.02.008. Epub 2005 Apr 19. Neuromuscul Disord. 2005. PMID: 15907287

3

Oxidative stress in myotonic dystrophy type 1.

Toscano A, Messina S, Campo GM, Di Leo R, Musumeci O, Rodolico C, Aguennouz M, Annesi G, Messina C, Vita G. Toscano A, et al. Free Radic Res. 2005 Jul;39(7):771-6. doi: 10.1080/10715760500138932. Free Radic Res. 2005. PMID: 16036357

4

"Dropped-head" syndrome due to isolated myositis of neck extensor muscles: MRI findings.

Gaeta M, Mazziotti S, Toscano A, Rodolico C, Mazzeo A, Blandino A. Gaeta M, et al. Among authors: toscano a. Skeletal Radiol. 2006 Feb;35(2):110-2. doi: 10.1007/s00256-005-0011-2. Epub 2005 Oct 12. Skeletal Radiol. 2006. PMID: 16220272

5

McArdle disease: the mutation spectrum of PYGM in a large Italian cohort.

Bruno C, Cassandrini D, Martinuzzi A, Toscano A, Moggio M, Morandi L, Servidei S, Mongini T, Angelini C, Musumeci O, Comi GP, Lamperti C, Filosto M, Zara F, Minetti C. Bruno C, et al. Among authors: toscano a. Hum Mutat. 2006 Jul;27(7):718. doi: 10.1002/humu.9434. Hum Mutat. 2006. PMID: 16786513

6

Identification of the infant-type R631C mutation in patients with the benign muscular form of CPT2 deficiency.

Musumeci O, Aguennouz M, Comi GP, Rodolico C, Autunno M, Bordoni A, Baratta S, Taroni F, Vita G, Toscano A. Musumeci O, et al. Among authors: toscano a. Neuromuscul Disord. 2007 Dec;17(11-12):960-3. doi: 10.1016/j.nmd.2007.05.002. Epub 2007 Jul 24. Neuromuscul Disord. 2007. PMID: 17651973

7

Evidence of cardiovascular autonomic impairment in mitochondrial disorders.

Di Leo R, Musumeci O, de Gregorio C, Recupero A, Grimaldi P, Messina C, Coglitore S, Vita G, Toscano A. Di Leo R, et al. Among authors: toscano a. J Neurol. 2007 Nov;254(11):1498-503. doi: 10.1007/s00415-007-0536-5. Epub 2007 Nov 9. J Neurol. 2007. PMID: 17987253

8

Opposed-phase MR imaging of lipid storage myopathy in a case of Chanarin-Dorfman disease.

Gaeta M, Minutoli F, Toscano A, Celona A, Musumeci O, Racchiusa S, Mazziotti S. Gaeta M, et al. Among authors: toscano a. Skeletal Radiol. 2008 Nov;37(11):1053-7. doi: 10.1007/s00256-008-0559-8. Epub 2008 Aug 6. Skeletal Radiol. 2008. PMID: 18682927

9

Immune-mediated rippling muscle disease with myasthenia gravis: a report of seven patients with long-term follow-up in two.

Schoser B, Jacob S, Hilton-Jones D, Müller-Felber W, Kubisch C, Claus D, Goebel HH, Vita G, Vincent A, Toscano A, Van den Bergh P. Schoser B, et al. Among authors: toscano a. Neuromuscul Disord. 2009 Mar;19(3):223-8. doi: 10.1016/j.nmd.2009.01.002. Epub 2009 Feb 8. Neuromuscul Disord. 2009. PMID: 19208478

10

MR imaging findings of focal myositis: a pseudotumour that may mimic muscle neoplasm.

Gaeta M, Mazziotti S, Minutoli F, Genitori A, Toscano A, Rodolico C, Blandino A. Gaeta M, et al. Among authors: toscano a. Skeletal Radiol. 2009 Jun;38(6):571-8. doi: 10.1007/s00256-009-0664-3. Epub 2009 Mar 3. Skeletal Radiol. 2009. PMID: 19255757

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