Ruggieri A - Search Results

1

Multiomic elucidation of a coding 99-mer repeat-expansion skeletal muscle disease.

Ruggieri A, Naumenko S, Smith MA, Iannibelli E, Blasevich F, Bragato C, Gibertini S, Barton K, Vorgerd M, Marcus K, Wang P, Maggi L, Mantegazza R, Dowling JJ, Kley RA, Mora M, Minassian BA. Ruggieri A, et al. Acta Neuropathol. 2020 Aug;140(2):231-235. doi: 10.1007/s00401-020-02164-4. Epub 2020 May 25. Acta Neuropathol. 2020. PMID: 32451610 Free PMC article. No abstract available.

2

LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect.

Di Blasi C, Piga D, Brioschi P, Moroni I, Pini A, Ruggieri A, Zanotti S, Uziel G, Jarre L, Della Giustina E, Scuderi C, Jonsrud C, Mantegazza R, Morandi L, Mora M. Di Blasi C, et al. Among authors: ruggieri a. Arch Neurol. 2005 Oct;62(10):1582-6. doi: 10.1001/archneur.62.10.1582. Arch Neurol. 2005. PMID: 16216942

3

Altered extracellular matrix transcript expression and protein modulation in primary Duchenne muscular dystrophy myotubes.

Zanotti S, Saredi S, Ruggieri A, Fabbri M, Blasevich F, Romaggi S, Morandi L, Mora M. Zanotti S, et al. Among authors: ruggieri a. Matrix Biol. 2007 Oct;26(8):615-24. doi: 10.1016/j.matbio.2007.06.004. Epub 2007 Jun 27. Matrix Biol. 2007. PMID: 17662584

4

Fukutin gene mutations in an Italian patient with early onset muscular dystrophy but no central nervous system involvement.

Saredi S, Ruggieri A, Mottarelli E, Ardissone A, Zanotti S, Farina L, Morandi L, Mora M, Moroni I. Saredi S, et al. Among authors: ruggieri a. Muscle Nerve. 2009 Jun;39(6):845-8. doi: 10.1002/mus.21271. Muscle Nerve. 2009. PMID: 19396839

5

Glycogen hyperphosphorylation underlies lafora body formation.

Turnbull J, Wang P, Girard JM, Ruggieri A, Wang TJ, Draginov AG, Kameka AP, Pencea N, Zhao X, Ackerley CA, Minassian BA. Turnbull J, et al. Among authors: ruggieri a. Ann Neurol. 2010 Dec;68(6):925-33. doi: 10.1002/ana.22156. Ann Neurol. 2010. PMID: 21077101

6

Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease.

Saredi S, Ardissone A, Ruggieri A, Mottarelli E, Farina L, Rinaldi R, Silvestri E, Gandioli C, D'Arrigo S, Salerno F, Morandi L, Grammatico P, Pantaleoni C, Moroni I, Mora M. Saredi S, et al. Among authors: ruggieri a. J Neurol Sci. 2012 Jul 15;318(1-2):45-50. doi: 10.1016/j.jns.2012.04.008. Epub 2012 May 2. J Neurol Sci. 2012. PMID: 22554691 Free PMC article.

7

Increased laforin and laforin binding to glycogen underlie Lafora body formation in malin-deficient Lafora disease.

Tiberia E, Turnbull J, Wang T, Ruggieri A, Zhao XC, Pencea N, Israelian J, Wang Y, Ackerley CA, Wang P, Liu Y, Minassian BA. Tiberia E, et al. Among authors: ruggieri a. J Biol Chem. 2012 Jul 20;287(30):25650-9. doi: 10.1074/jbc.M111.331611. Epub 2012 Jun 5. J Biol Chem. 2012. PMID: 22669944 Free PMC article.

8

VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy.

Ramachandran N, Munteanu I, Wang P, Ruggieri A, Rilstone JJ, Israelian N, Naranian T, Paroutis P, Guo R, Ren ZP, Nishino I, Chabrol B, Pellissier JF, Minetti C, Udd B, Fardeau M, Tailor CS, Mahuran DJ, Kissel JT, Kalimo H, Levy N, Manolson MF, Ackerley CA, Minassian BA. Ramachandran N, et al. Among authors: ruggieri a. Acta Neuropathol. 2013 Mar;125(3):439-57. doi: 10.1007/s00401-012-1073-6. Epub 2013 Jan 12. Acta Neuropathol. 2013. PMID: 23315026

9

Non-coding VMA21 deletions cause X-linked myopathy with excessive autophagy.

Ruggieri A, Ramachandran N, Wang P, Haan E, Kneebone C, Manavis J, Morandi L, Moroni I, Blumbergs P, Mora M, Minassian BA. Ruggieri A, et al. Neuromuscul Disord. 2015 Mar;25(3):207-11. doi: 10.1016/j.nmd.2014.11.014. Epub 2014 Nov 26. Neuromuscul Disord. 2015. PMID: 25683699

10

Congenital autophagic vacuolar myopathy is allelic to X-linked myopathy with excessive autophagy.

Munteanu I, Ramachandran N, Ruggieri A, Awaya T, Nishino I, Minassian BA. Munteanu I, et al. Among authors: ruggieri a. Neurology. 2015 Apr 21;84(16):1714-6. doi: 10.1212/WNL.0000000000001499. Epub 2015 Mar 27. Neurology. 2015. PMID: 25817839 Free PMC article. No abstract available.

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