Sciacco M - Search Results

1

Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies.

Feichtinger RG, Oláhová M, Kishita Y, Garone C, Kremer LS, Yagi M, Uchiumi T, Jourdain AA, Thompson K, D'Souza AR, Kopajtich R, Alston CL, Koch J, Sperl W, Mastantuono E, Strom TM, Wortmann SB, Meitinger T, Pierre G, Chinnery PF, Chrzanowska-Lightowlers ZM, Lightowlers RN, DiMauro S, Calvo SE, Mootha VK, Moggio M, Sciacco M, Comi GP, Ronchi D, Murayama K, Ohtake A, Rebelo-Guiomar P, Kohda M, Kang D, Mayr JA, Taylor RW, Okazaki Y, Minczuk M, Prokisch H. Feichtinger RG, et al. Among authors: sciacco m. Am J Hum Genet. 2017 Oct 5;101(4):525-538. doi: 10.1016/j.ajhg.2017.08.015. Epub 2017 Sep 21. Am J Hum Genet. 2017. PMID: 28942965 Free PMC article.

2

Appearance and localization of dystrophin in normal human fetal muscle.

Prelle A, Chianese L, Moggio M, Gallanti A, Sciacco M, Checcarelli N, Comi G, Scarpini E, Bonilla E, Scarlato G. Prelle A, et al. Among authors: sciacco m. Int J Dev Neurosci. 1991;9(6):607-12. doi: 10.1016/0736-5748(91)90022-e. Int J Dev Neurosci. 1991. PMID: 1803857

3

Phenotype-genotype correlations in skeletal muscle of patients with mtDNA deletions.

Moraes CT, Sciacco M, Ricci E, Tengan CH, Hao H, Bonilla E, Schon EA, DiMauro S. Moraes CT, et al. Among authors: sciacco m. Muscle Nerve Suppl. 1995;3:S150-3. doi: 10.1002/mus.880181429. Muscle Nerve Suppl. 1995. PMID: 7603517

4

Immunolocalization of heat shock proteins in ragged-red fibers of patients with mitochondrial encephalomyopathies.

Sparaco M, Rosoklija G, Tanji K, Sciacco M, Latov N, DiMauro S, Bonilla E. Sparaco M, et al. Among authors: sciacco m. Neuromuscul Disord. 1993 Jan;3(1):71-6. doi: 10.1016/0960-8966(93)90044-k. Neuromuscul Disord. 1993. PMID: 8101114

5

Decrease of nerve Na+,K(+)-ATPase activity in the pathogenesis of human diabetic neuropathy.

Scarpini E, Bianchi R, Moggio M, Sciacco M, Fiori MG, Scarlato G. Scarpini E, et al. Among authors: sciacco m. J Neurol Sci. 1993 Dec 15;120(2):159-67. doi: 10.1016/0022-510x(93)90268-4. J Neurol Sci. 1993. PMID: 8138805

6

Distribution of wild-type and common deletion forms of mtDNA in normal and respiration-deficient muscle fibers from patients with mitochondrial myopathy.

Sciacco M, Bonilla E, Schon EA, DiMauro S, Moraes CT. Sciacco M, et al. Hum Mol Genet. 1994 Jan;3(1):13-9. doi: 10.1093/hmg/3.1.13. Hum Mol Genet. 1994. PMID: 8162014

7

Cytochrome c oxidase subunit I microdeletion in a patient with motor neuron disease.

Comi GP, Bordoni A, Salani S, Franceschina L, Sciacco M, Prelle A, Fortunato F, Zeviani M, Napoli L, Bresolin N, Moggio M, Ausenda CD, Taanman JW, Scarlato G. Comi GP, et al. Among authors: sciacco m. Ann Neurol. 1998 Jan;43(1):110-6. doi: 10.1002/ana.410430119. Ann Neurol. 1998. PMID: 9450776

8

Clinical manifestations of mitochondrial DNA depletion.

Vu TH, Sciacco M, Tanji K, Nichter C, Bonilla E, Chatkupt S, Maertens P, Shanske S, Mendell J, Koenigsberger MR, Sharer L, Schon EA, DiMauro S, DeVivo DC. Vu TH, et al. Among authors: sciacco m. Neurology. 1998 Jun;50(6):1783-90. doi: 10.1212/wnl.50.6.1783. Neurology. 1998. PMID: 9633728

9

Sarcoglycan deficiency in a large Italian population of myopathic patients.

Prelle A, Comi GP, Tancredi L, Rigoletto C, Ciscato P, Fortunato F, Nesti S, Sciacco M, Robotti M, Bazzi P, Felisari G, Moggio M, Scarlato G. Prelle A, et al. Among authors: sciacco m. Acta Neuropathol. 1998 Nov;96(5):509-14. doi: 10.1007/s004010050926. Acta Neuropathol. 1998. PMID: 9829815

10

Lack of apoptosis in mitochondrial encephalomyopathies.

Sciacco M, Fagiolari G, Lamperti C, Messina S, Bazzi P, Napoli L, Chiveri L, Prelle A, Comi GP, Bresolin N, Scarlato G, Moggio M. Sciacco M, et al. Neurology. 2001 Apr 24;56(8):1070-4. doi: 10.1212/wnl.56.8.1070. Neurology. 2001. PMID: 11320180

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