| 1 |
Allele-specific silencing therapy for Dynamin 2-related dominant centronuclear myopathy. ( 29246969
)
|
Trochet D....Bitoun M.
|
2018 |
| 2 |
Dynamin-2 mutations linked to Centronuclear Myopathy impair actin-dependent trafficking in muscle cells. ( 28676641
)
|
GonzA!lez-Jamett A.M....CA!rdenas A.M.
|
2017 |
| 3 |
Insights from genotype-phenotype correlations by novel SPEG mutations causing centronuclear myopathy. ( 28624463
)
|
Wang H....Cirak S.
|
2017 |
| 4 |
Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients. ( 28818389
)
|
Abath Neto O....Zanoteli E.
|
2017 |
| 5 |
Impaired excitation-contraction coupling in muscle fibres from the dynamin2<sup>R465W</sup>mouse model of centronuclear myopathy. ( 29071728
)
|
Kutchukian C....Jacquemond V.
|
2017 |
| 6 |
Dominant Centronuclear Myopathy with Early Childhood Onset due to a Novel Mutation in BIN1. ( 29103045
)
|
Kouwenberg C....Voermans N.
|
2017 |
| 7 |
Progressive Structural Defects in Canine Centronuclear Myopathy Indicate a Role for HACD1 in Maintaining Skeletal Muscle Membrane Systems. ( 27939133
)
|
Walmsley G.L....Piercy R.J.
|
2017 |
| 8 |
A rare case of centronuclear myopathy with DNM2 mutation: genotype-phenotype correlation. ( 28740838
)
|
Aghbolaghi A.G....Lechpammer M.
|
2017 |
| 9 |
Exome sequencing is a valuable approach in critically ill patients with suspected monogenic disease: Diagnosis of X-linked centronuclear myopathy in preterm twins. ( 27989427
)
|
Johannsen J....Denecke J.
|
2017 |
| 10 |
Emery-Dreifuss muscular dystrophy-linked genes and centronuclear myopathy-linked genes regulate myonuclear movement by distinct mechanisms. ( 28637766
)
|
Collins M.A....Folker E.S.
|
2017 |
| 11 |
Structural insights into the centronuclear myopathy-associated functions of BIN1 and dynamin 2. ( 27343996
)
|
Hohendahl A....Galli V.
|
2016 |
| 12 |
Novel Dominant Mutation in BIN1 Gene Causing Mild Centronuclear Myopathy Revealed by Myalgias and CK Elevation. ( 27854204
)
|
Garibaldi M....Romero N.B.
|
2016 |
| 13 |
[Retraction] Clinical, pathological and genetic characteristics of autosomal dominant inherited dynaminA 2 centronuclear myopathy. ( 27176730
)
|
Liu X....Yan C.
|
2016 |
| 14 |
DNM2 mutations in Chinese Han patients with centronuclear myopathy. ( 26908122
)
|
Lin P....Yan C.
|
2016 |
| 15 |
Calcium homeostasis alterations in a mouse model of the Dynamin 2-related centronuclear myopathy. ( 27870637
)
|
Fraysse B....Bitoun M.
|
2016 |
| 16 |
Clinical, pathological and genetic characteristics of autosomal dominant inherited dynaminA 2 centronuclear myopathy. ( 27035234
)
|
Liu X....Yan C.
|
2016 |
| 17 |
Clinical, Electrophysiology, and Pathology Features of Dynamin Centronuclear Myopathy: A Case Report and Review of Literature. ( 27861221
)
|
Verma S....Balasubramanian S.B.
|
2016 |
| 18 |
Erratum: Reply: Respiratory motor function in centronuclear myopathy. ( 27198895
)
|
|
2016 |
| 19 |
Adult- Onset Centronuclear Myopathy. ( 27739277
)
|
Krishnan M....Sivakumar S.
|
2016 |
| 20 |
Noninvasive Assessment of Neuromuscular Disease in Dogs: Use of the 6-minute Walk Test to Assess Submaximal Exercise Tolerance in Dogs with Centronuclear Myopathy. ( 27012153
)
|
Cerda-Gonzalez S....Todhunter R.
|
2016 |
| 21 |
A novel dynamin-2 gene mutation associated with a late-onset centronuclear myopathy with necklace fibres. ( 25633151
)
|
Casar-Borota O....Oldfors A.
|
2015 |
| 22 |
Neuromuscular blocking effects of cisatracurium and its antagonism with neostigmine in a canine model of autosomal-recessive centronuclear myopathy. ( 26582854
)
|
Martin-Flores M....Gleed R.D.
|
2015 |
| 23 |
The kalaemic and neuromuscular effects of succinylcholine in centronuclear myopathy: A pilot investigation in a canine model. ( 25603385
)
|
Martin-Flores M....Gleed R.D.
|
2015 |
| 24 |
The coexistence of dynamin 2 mutation and multiple mitochondrial DNA (mtDNA) deletions in the background of severe cardiomyopathy and centronuclear myopathy. ( 25492887
)
|
Gal A....Molnar M.J.
|
2015 |
| 25 |
DNM2 mutations in a cohort of sporadic patients with centronuclear myopathy. ( 26273216
)
|
Abath Neto O....Zanoteli E.
|
2015 |
| 26 |
Neuromuscular blocking effects of vecuronium in dogs with autosomal-recessive centronuclear myopathy. ( 25815571
)
|
Martin-Flores M....Campoy L.
|
2015 |
| 27 |
Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort. ( 25957634
)
|
Fattori F....D'Amico A.
|
2015 |
| 28 |
Respiratory motor function in centronuclear myopathy. ( 26561983
)
|
Smith B.K....Byrne B.J.
|
2015 |
| 29 |
Suspected congenital centronuclear myopathy in an Arabian-cross foal. ( 25410957
)
|
Polle F....Shelton G.D.
|
2014 |
| 30 |
Mutations in BIN1 associated with centronuclear myopathy disrupt membrane remodeling by affecting protein density and oligomerization. ( 24755653
)
|
Wu T....Baumgart T.
|
2014 |
| 31 |
Contraction versus contracture and centronuclear myopathy versus central part myopathy in malignant hyperthermia. ( 24794461
)
|
Da Silva H.C....Do Amaral J.L.
|
2014 |
| 32 |
Reducing dynamin 2 expression rescues X-linked centronuclear myopathy. ( 24569376
)
|
Cowling B.S....Laporte J.
|
2014 |
| 33 |
Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations. ( 25260562
)
|
BAPhm J....Laporte J.
|
2014 |
| 34 |
N-WASP is required for Amphiphysin-2/BIN1-dependent nuclear positioning and triad organization in skeletal muscle and is involved in the pathophysiology of centronuclear myopathy. ( 25262827
)
|
Falcone S....Gomes E.R.
|
2014 |
| 35 |
Clinical and Pathological Features of Korean Patients with DNM2-Related Centronuclear Myopathy. ( 24465259
)
|
Park Y.E....Kim D.S.
|
2014 |
| 36 |
SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy. ( 25087613
)
|
Agrawal P.B....Beggs A.H.
|
2014 |
| 37 |
Bridging integrator 1 (Bin1) deficiency in zebrafish results in centronuclear myopathy. ( 24549043
)
|
Smith L.L....Beggs A.H.
|
2014 |
| 38 |
Dynamin 2 the rescue for centronuclear myopathy. ( 24569368
)
|
Demonbreun A.R....McNally E.M.
|
2014 |
| 39 |
Identification of the mutation causing centronuclear myopathy in a border collie. ( 25081885
)
|
Eminaga S....Shelton G.D.
|
2014 |
| 40 |
A mutation associated with centronuclear myopathy enhances the size and stability of dynamin 2 complexes in cells. ( 24016602
)
|
James N.G....Jameson D.M.
|
2014 |
| 41 |
Clinical, pathological, and genetic features of dynamin-2-related centronuclear myopathy in China. ( 25501959
)
|
Chen T....Shi Q.
|
2014 |
| 42 |
Histopathologic changes in the extraocular muscle in centronuclear myopathy with a Dynamin 2 mutation. ( 22924779
)
|
Hanna N....Edward D.P.
|
2013 |
| 43 |
Neuromuscular junction abnormalities in DNM2-related centronuclear myopathy. ( 23338057
)
|
Gibbs E.M....Dowling J.J.
|
2013 |
| 44 |
Titin and centronuclear myopathy: The tip of the iceberg for TTN-ic mutations? ( 23975873
)
|
Dowling J.J.
|
2013 |
| 45 |
Centronuclear myopathy related to dynamin 2 mutations: clinical, morphological, muscle imaging and genetic features of an Italian cohort. ( 23394783
)
|
Catteruccia M....D'Amico A.
|
2013 |
| 46 |
Loss of catalytically inactive lipid phosphatase myotubularin-related protein 12 impairs myotubularin stability and promotes centronuclear myopathy in zebrafish. ( 23818870
)
|
Gupta V.A....Beggs A.H.
|
2013 |
| 47 |
Muscle-specific function of the centronuclear myopathy and Charcot-Marie-Tooth neuropathy-associated dynamin 2 is required for proper lipid metabolism, mitochondria, muscle fibers, neuromuscular junctions and peripheral nerves. ( 23813975
)
|
Tinelli E....Suter U.
|
2013 |
| 48 |
A novel mutation in the DNM2 gene impairs dynamin 2 localization in skeletal muscle of a patient with late onset centronuclear myopathy. ( 23374900
)
|
Kierdaszuk B....Kaminska A.M.
|
2013 |
| 49 |
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. ( 23975875
)
|
Ceyhan-Birsoy O....Beggs A.H.
|
2013 |
| 50 |
Myotonia in DNM2-related centronuclear myopathy. ( 24366529
)
|
Dabby R....Leshinsky-Silver E.
|
2013 |
