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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1997 1
1998 1
1999 2
2000 1
2001 1
2002 2
2004 2
2005 1
2008 1
2011 5
2014 1
2016 3
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2020 1
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Page 1
Functions of Vertebrate Ferlins.
Bulankina AV, Thoms S. Bulankina AV, et al. Cells. 2020 Feb 25;9(3):534. doi: 10.3390/cells9030534. Cells. 2020. PMID: 32106631 Free PMC article. Review.
Mutations in DYSF (dysferlin) can cause a range of muscle diseases with various clinical manifestations collectively known as dysferlinopathies, including limb-girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi myopathy. A mutation in MYOF (myoferlin) was linked …
Mutations in DYSF (dysferlin) can cause a range of muscle diseases with various clinical manifestations collectively known as dysferlinopath …
Dysferlinopathies: Clinical and genetic variability.
Ivanova A, Smirnikhina S, Lavrov A. Ivanova A, et al. Clin Genet. 2022 Dec;102(6):465-473. doi: 10.1111/cge.14216. Epub 2022 Sep 6. Clin Genet. 2022. PMID: 36029111 Review.
At least four forms of dysferlinopathies have been described: Miyoshi myopathy, limb-girdle muscular dystrophy type 2B, distal myopathy with anterior tibial onset, and isolated hyperCKemia. ...
At least four forms of dysferlinopathies have been described: Miyoshi myopathy, limb-girdle muscular dystrophy type 2B, distal …
Distal myopathies.
Illa I. Illa I. J Neurol. 2000 Mar;247(3):169-74. doi: 10.1007/s004150050557. J Neurol. 2000. PMID: 10787109 Review.
Distal myopathies are classified according to clinical, histopathological, and genetic patterns into the following: late adult onset type 1, or Welander myopathy, the first recognized distal myopathy with autosomal dominant inheritance and very recently linked to chromosome 2p; l …
Distal myopathies are classified according to clinical, histopathological, and genetic patterns into the following: late adult onset type 1, …
Dysferlinopathies.
Urtizberea JA, Bassez G, Leturcq F, Nguyen K, Krahn M, Levy N. Urtizberea JA, et al. Neurol India. 2008 Jul-Sep;56(3):289-97. doi: 10.4103/0028-3886.43447. Neurol India. 2008. PMID: 18974555 Free article. Review.
Dysferlinopathies encompass a large variety of neuromuscular diseases characterized by the absence of dysferlin in skeletal muscle and an autosomal recessive mode of inheritance. So far, three main phenotypes have been reported: Miyoshi myopathy (MM), limb girdle mu …
Dysferlinopathies encompass a large variety of neuromuscular diseases characterized by the absence of dysferlin in skeletal muscle and an au …
Annexins and Membrane Repair Dysfunctions in Muscular Dystrophies.
Croissant C, Carmeille R, Brévart C, Bouter A. Croissant C, et al. Int J Mol Sci. 2021 May 17;22(10):5276. doi: 10.3390/ijms22105276. Int J Mol Sci. 2021. PMID: 34067866 Free PMC article. Review.
Muscular dystrophies constitute a group of genetic disorders that cause weakness and progressive loss of skeletal muscle mass. Among them, Miyoshi muscular dystrophy 1 (MMD1), limb girdle muscular dystrophy type R2 (LGMDR2/2B), and LGMDR12 (2L) are cha …
Muscular dystrophies constitute a group of genetic disorders that cause weakness and progressive loss of skeletal muscle mass. Among them, …
Distal myopathies.
Nonaka I. Nonaka I. Curr Opin Neurol. 1999 Oct;12(5):493-9. doi: 10.1097/00019052-199910000-00002. Curr Opin Neurol. 1999. PMID: 10590885 Review.
The most representative diseases are dominantly inherited Welander distal myopathy and tibial muscular dystrophy, and the recessively inherited distal myopathy with rimmed vacuoles and distal muscular dystrophy (Miyoshi myopathy). Since the discovery of the gene loc …
The most representative diseases are dominantly inherited Welander distal myopathy and tibial muscular dystrophy, and the recessively inheri …
Progress and challenges in diagnosis of dysferlinopathy.
Fanin M, Angelini C. Fanin M, et al. Muscle Nerve. 2016 Nov;54(5):821-835. doi: 10.1002/mus.25367. Muscle Nerve. 2016. PMID: 27501525 Review.
Dysferlin-deficient limb girdle muscular dystrophy type 2B, distal Miyoshi myopathy, and other less frequent phenotypes are a group of recessive disorders called dysferlinopathies. ...
Dysferlin-deficient limb girdle muscular dystrophy type 2B, distal Miyoshi myopathy, and other less frequent phenotypes are a …
[Miyoshi distal muscular dystrophy (Miyoshi myopathy)].
Kawai H. Kawai H. Brain Nerve. 2011 Feb;63(2):147-56. Brain Nerve. 2011. PMID: 21301039 Review. Japanese.
ARDMD is often referred to as Miyoshi-type distal muscular dystrophy (MDMD) or Miyoshi myopathy (MM). The onset of MDMD occurs in early adulthood. ...
ARDMD is often referred to as Miyoshi-type distal muscular dystrophy (MDMD) or Miyoshi myopathy (MM). The onset of MDMD occurs …
27 results