Marina Fanin
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Explore the profile of Marina Fanin including associated specialties, affiliations and a list of published articles.
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56
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1017
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Recent Articles
1.
Giugliano T, Savarese M, Garofalo A, Picillo E, Fiorillo C, DAmico A, et al.
Genes (Basel)
. 2018 Oct;
9(11).
PMID: 30373198
Next-generation sequencing (NGS) technologies have led to an increase in the diagnosis of heterogeneous genetic conditions. However, over 50% of patients with a genetically inherited disease are still without a...
2.
Astrea G, Romano A, Angelini C, Antozzi C, Barresi R, Battini R, et al.
Orphanet J Rare Dis
. 2018 Sep;
13(1):170.
PMID: 30257713
Background: Dystroglycanopathy (α-DG) is a relatively common, clinically and genetically heterogeneous category of congenital forms of muscular dystrophy (CMD) and limb-girdle muscular dystrophy (LGMD) associated with hypoglycosylated α-dystroglycan. To date,...
3.
Savarese M, Torella A, Musumeci O, Angelini C, Astrea G, Bello L, et al.
Neuromuscul Disord
. 2018 Jun;
28(7):586-591.
PMID: 29880332
Mutations in the GAA gene may cause a late onset Pompe disease presenting with proximal weakness without the characteristic muscle pathology, and therefore a test for GAA activity is the...
4.
Nascimbeni A, Fanin M, Angelini C, Sandri M
Cell Death Dis
. 2017 Jan;
8(1):e2565.
PMID: 28102838
The autophagy-lysosome system is critical for muscle homeostasis and defects in lysosomal function result in a number of inherited muscle diseases, generally referred to as autophagic vacuolar myopathies (AVMs). Among...
5.
Nascimbeni A, Fanin M, Angelini C, Sandri M
J Neuromuscul Dis
. 2016 Nov;
2(s1):S9.
PMID: 27858607
No abstract available.
6.
Becker muscular dystrophy due to an intronic splicing mutation inducing a dual dystrophin transcript
Todeschini A, Gualandi F, Trabanelli C, Armaroli A, Ravani A, Fanin M, et al.
Neuromuscul Disord
. 2016 Sep;
26(10):662-665.
PMID: 27616544
We describe a 29-year-old patient who complained of left thigh muscle weakness since he was 23 and of moderate proximal weakness of both lower limbs with difficulty in climbing stairs...
7.
Bello L, Campadello P, Barp A, Fanin M, Semplicini C, Soraru G, et al.
Sci Rep
. 2016 Sep;
6:32439.
PMID: 27582364
We performed a 1-year longitudinal study of Six Minute Walk Test (6MWT), North Star Ambulatory Assessment (NSAA), and timed function tests in Becker muscular dystrophy (BMD). Skeletal muscle dystrophin was...
8.
Fanin M, Angelini C
Muscle Nerve
. 2016 Aug;
54(5):821-835.
PMID: 27501525
Dysferlin-deficient limb girdle muscular dystrophy type 2B, distal Miyoshi myopathy, and other less frequent phenotypes are a group of recessive disorders called dysferlinopathies. They are characterized by wide clinical heterogeneity....
9.
Savarese M, Di Fruscio G, Torella A, Fiorillo C, Magri F, Fanin M, et al.
Neurology
. 2016 Jun;
87(1):71-6.
PMID: 27281536
Objective: To apply next-generation sequencing (NGS) for the investigation of the genetic basis of undiagnosed muscular dystrophies and myopathies in a very large cohort of patients. Methods: We applied an...
10.
Giugliano T, Fanin M, Savarese M, Piluso G, Angelini C, Nigro V
Neuromuscul Disord
. 2016 Apr;
26(6):367-9.
PMID: 27108072
A large mutation screening of 504 patients with muscular dystrophy or myopathy has been performed by next generation sequencing (NGS). Among this cohort of patients, we report a case with...