M Fanin
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Explore the profile of M Fanin including associated specialties, affiliations and a list of published articles.
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67
Citations
1119
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Recent Articles
1.
Cenacchi G, Papa V, Pegoraro V, Marozzo R, Fanin M, Angelini C
Neuropathol Appl Neurobiol
. 2019 Nov;
46(4):303-322.
PMID: 31698507
Danon disease is a severe multisystem disorder clinically characterized by hypertrophic cardiomyopathy, skeletal myopathy and mental retardation in male patients, and by a milder phenotype (predominantly involving cardiac muscle) in...
2.
Cenacchi G, Papa V, Costa R, Pegoraro V, Marozzo R, Fanin M, et al.
Virchows Arch
. 2019 Aug;
475(6):671-686.
PMID: 31363843
An abnormal structural form of glycogen (with less branching points or amylopectin-like polysaccharide) called polyglucosan (PG) may accumulate in various tissues such as striated and smooth muscles, brain, nerve, liver...
3.
Aguennouz M, Lo Giudice C, Licata N, Rodolico C, Musumeci O, Fanin M, et al.
Cell Biochem Funct
. 2016 Aug;
34(6):414-22.
PMID: 27558075
miRNA expression profile and predicted pathways involved in selected limb-girdle muscular dystrophy (LGMD)2A/2B patients were investigated. A total of 187 miRNAs were dysregulated in all patients, with six miRNAs showing...
4.
Fiorillo C, Astrea G, Savarese M, Cassandrini D, Brisca G, Trucco F, et al.
Orphanet J Rare Dis
. 2016 Jul;
11(1):91.
PMID: 27387980
Background: Myosin heavy chain 7 (MYH7)-related myopathies are emerging as an important group of muscle diseases of childhood and adulthood, with variable clinical and histopathological expression depending on the type...
5.
Fanin M, Nascimbeni A, Angelini C
Neuropathol Appl Neurobiol
. 2013 Feb;
39(7):762-71.
PMID: 23414389
Aims: The peculiar clinical features and the pathogenic mechanism related to calpain-3 deficiency (impaired sarcomere remodelling) suggest that the ubiquitin-proteasome degradation pathway may have a crucial role in Limb Girdle...
6.
Nascimbeni A, Fanin M, Masiero E, Angelini C, Sandri M
Cell Death Differ
. 2012 May;
19(10):1698-708.
PMID: 22595755
Regulated removal of proteins and organelles by autophagy-lysosome system is critical for muscle homeostasis. Excessive activation of autophagy-dependent degradation contributes to muscle atrophy and cachexia. Conversely, inhibition of autophagy causes...
7.
Fanin M, Benedicenti F, Fritegotto C, Nascimbeni A, Peterle E, Stanzial F, et al.
Clin Genet
. 2012 Apr;
82(6):601-2.
PMID: 22486197
No abstract available.
8.
Fanin M, Anichini A, Cassandrini D, Fiorillo C, Scapolan S, Minetti C, et al.
Clin Genet
. 2011 Sep;
82(3):232-9.
PMID: 21913903
As genotype-phenotype correlations require the study of large patient populations, we investigated 49 Italian patients (33 unreported) with the muscle form of carnitine-palmitoyl-transferase-II (CPT-II) deficiency and CPT2 gene mutations. CPT...
9.
Meznaric M, Gonzalez-Quereda L, Gallardo E, de Luna N, Gallano P, Fanin M, et al.
Eur J Neurol
. 2011 Jun;
18(7):1021-3.
PMID: 21658164
Background: In some cases, a definitive confirmation of dysferlinopathy cannot be achieved by DNA test, because the mutation is detected in one allele only. Patients And Methods: DYSFERLIN expression in...
10.
Angelini C, Nardetto L, Borsato C, Padoan R, Fanin M, Nascimbeni A, et al.
Neurol Res
. 2010 Jan;
32(1):41-6.
PMID: 20092694
Objective: Autosomal recessive limb girdle muscular dystrophies (LGMD type 2) are a clinically and genetically heterogeneous group of disorders, characterized by progressive involvement and wasting of limb girdle muscles. In...