M Sciacco
Overview
Explore the profile of M Sciacco including associated specialties, affiliations and a list of published articles.
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Articles
38
Citations
607
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0
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Recent Articles
1.
Galimberti V, Tironi R, Lerario A, Scali M, Del Bo R, Rodolico C, et al.
Eur J Neurol
. 2019 Nov;
27(4):709-715.
PMID: 31769567
Background And Purpose: The aim was to assess the value of insoluble PABPN1 muscle fibre nuclei accumulation in the diagnosis of atypical cases of oculopharyngeal muscular dystrophy (OPMD). Methods: Muscle...
2.
Orsucci D, Angelini C, Bertini E, Carelli V, Comi G, Federico A, et al.
J Neurol
. 2017 Jul;
264(8):1777-1784.
PMID: 28695364
Ocular myopathy, typically manifesting as progressive external ophthalmoplegia (PEO), is among the most common mitochondrial phenotypes. The purpose of this study is to better define the clinical phenotypes associated with...
3.
Ripolone M, Violano R, Ronchi D, Mondello S, Nascimbeni A, Colombo I, et al.
Neuropathol Appl Neurobiol
. 2017 Jun;
44(5):449-462.
PMID: 28574618
Aims: Pompe disease is an autosomal recessive lysosomal storage disorder resulting from deficiency of acid α-glucosidase (GAA) enzyme. Histopathological hallmarks in skeletal muscle tissue are fibre vacuolization and autophagy. Since...
4.
Colombo I, Pagliarani S, Testolin S, Salsano E, Napoli L, Bordoni A, et al.
Neuromuscul Disord
. 2015 Mar;
25(5):423-8.
PMID: 25728520
Adult Polyglucosan Body Disease (APBD) is a rare inherited leukodystrophy associated with axonal polyneuropathy, mainly reported in persons of Ashkenazi-Jewish descent. We describe three Italian siblings at disease onset, presenting...
5.
Colombo I, Fruguglietti M, Napoli L, Sciacco M, Tagliaferri E, Della Volpe A, et al.
Neurol Res Int
. 2010 Dec;
2010:808474.
PMID: 21188228
A 48-years old man was diagnosed an IgD-k multiple myeloma (MM) at age 38 years for which he successfully underwent chemotherapy and bone marrow transplant. He then developed a graft-versus-host...
6.
Fruguglietti M, Napoli L, Sciacco M, Ripolone M, Serafini M, Grimoldi N, et al.
Clin Neuropathol
. 2009 Apr;
28(2):125-8.
PMID: 19353844
We describe the clinicopathologic features of a 69-year-old man affected with acute onset Churg-Strauss syndrome with major peripheral nerve involvement. At admission the patient presented a one-week history of distal...
7.
Del Bo R, Bordoni A, Sciacco M, Di Fonzo A, Galbiati S, Crimi M, et al.
Neurology
. 2003 Oct;
61(7):903-8.
PMID: 14557557
Objective: To better understand the still unknown pathologic mechanism involved in the accumulation of multiple mtDNA deletions in stable tissues. Methods: A large-scale screening of mtDNA molecules from skeletal muscle...
8.
Prelle A, Sciacco M, Tancredi L, Fagiolari G, Comi G, Ciscato P, et al.
Acta Neuropathol
. 2003 May;
105(6):537-42.
PMID: 12734659
Limb girdle muscular dystrophy (LGMD) type 2B and distal Miyoshi myopathy (MM) are caused by mutations in a recently discovered mammalian gene coding for a skeletal muscle protein called dysferlin....
9.
Crimi M, Galbiati S, Perini M, Bordoni A, Malferrari G, Sciacco M, et al.
Neurology
. 2003 Apr;
60(7):1200-3.
PMID: 12682337
We have identified a heteroplasmic G to A mutation at position 12,183 of the mitochondrial transfer RNA Histidine (tRNA(His)) gene in three related patients. These phenotypes varied according to mutation...
10.
Messina S, Fagiolari G, Lamperti C, Cavaletti G, Prelle A, Scarlato G, et al.
Neurology
. 2002 Feb;
58(3):482-4.
PMID: 11839858
Two previously healthy women developed an inflammatory myopathy before the term of their first pregnancy. Skeletal muscle biopsy led to a diagnosis of T cell-mediated polymyositis. Both babies were healthy,...