SCOPUS 정보 검색 플랫폼

Journal of Neurology

Volumn 258, Issue 6, 2011, Pages 1085-1090

Phenotype variability and histopathological findings in centronuclear myopathy due to DNM2 mutations

(8) Hanisch, F a Muller T a Dietz, A a Bitoun, M b Kress, W c Weis, J d Stoltenburg, G a Zierz, S a

a MARTIN LUTHER UNIVERSITY HALLE WITTENBERG (Germany)

b INSERM (France)

c UNIVERSITY OF WÜRZBURG (Germany)

d RWTH AACHEN UNIVERSITY (Germany)

Author keywords

Centronuclear myopathy; Dynamin 2; Trismus

Indexed keywords

DYNAMIN II;

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CENTRONUCLEAR MYOPATHY; CLINICAL ARTICLE; CONTRACTURE; CONTROLLED STUDY; DNM 2 GENE; ELECTROCARDIOGRAPHY; ELECTROPHYSIOLOGY; FEMALE; FORCED EXPIRATORY VOLUME; GENE; GENE MUTATION; HETEROZYGOSITY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; MALE; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE WEAKNESS; MUTATIONAL ANALYSIS; NEUROPATHY; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; OPHTHALMOPLEGIA; PHENOTYPIC VARIATION; PRIORITY JOURNAL; PTOSIS; TORTICOLLIS; TRISMUS; VITAL CAPACITY;

EID: 79959834545 PISSN: 03405354 EISSN: 14321459 Source Type: Journal
DOI: 10.1007/s00415-010-5889-5 Document Type: Article

Times cited : (37)

References (16)

1
- 27644543614
- Mutations in dynamin 2 cause dominant centronuclear myopathy
- DOI 10.1038/ng1657, PII N1657
- M Bitoun S Maugenre PY Jeannet, et al. 2005 Mutations in dynamin 2 cause dominant centronuclear myopathy Nat Genet 37 1207 1209 10.1038/ng1657 1:CAS:528:DC%2BD2MXhtFGhsL3E 16227997 (Pubitemid 41568701)
- (2005) Nature Genetics , vol.37 , Issue.11 , pp. 1207-1209
- Bitoun, M.¹ Maugenre, S.² Jeannet, P.-Y.³ Lacene, E.⁴ Ferrer, X.⁵ Laforet, P.⁶ Martin, J.-J.⁷ Laporte, J.⁸ Lochmuller, H.⁹ Beggs, A.H.¹⁰ Fardeau, M.¹¹ Eymard, B.¹² Romero, N.B.¹³ Guicheney, P.¹⁴

2
- 37849052426
- Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset
- 10.1002/ana.21235 1:CAS:528:DC%2BD1cXhsVCru7o%3D 17932957
- M Bitoun JA Bevilacqua B Prudhon, et al. 2007 Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset Ann Neurol 62 666 670 10.1002/ana.21235 1:CAS:528:DC%2BD1cXhsVCru7o%3D 17932957
- (2007) Ann Neurol , vol.62 , pp. 666-670
- Bitoun, M.¹ Bevilacqua, J.A.² Prudhon, B.³

3
- 43049159556
- A novel mutation in the dynamin 2 gene in a Charcot-Marie-Tooth type 2 patient: Clinical and pathological findings
- 10.1016/j.nmd.2008.01.005
- M Bitoun T Stojkovic B Prudhon, et al. 2008 A novel mutation in the dynamin 2 gene in a Charcot-Marie-Tooth type 2 patient: clinical and pathological findings Neuromuscul Dis 18 334 338 10.1016/j.nmd.2008.01.005
- (2008) Neuromuscul Dis , vol.18 , pp. 334-338
- Bitoun, M.¹ Stojkovic, T.² Prudhon, B.³

4
- 63849319158
- A new centronuclear myopathy phenotype due to a novel dynamin 2 mutation
- 10.1212/01.wnl.0000338624.25852.12 1:STN:280:DC%2BD1M%2FltFensw%3D%3D 19122038
- M Bitoun JA Bevilacqua B Eymard, et al. 2009 A new centronuclear myopathy phenotype due to a novel dynamin 2 mutation Neurology 72 93 95 10.1212/01.wnl.0000338624.25852.12 1:STN:280:DC%2BD1M%2FltFensw%3D%3D 19122038
- (2009) Neurology , vol.72 , pp. 93-95
- Bitoun, M.¹ Bevilacqua, J.A.² Eymard, B.³

5
- 0003524984
- Elsevier Amsterdam
- Dubowitz V, Sewry CA (2007) Muscle Biopsy. A practical approach. Elsevier, Amsterdam
- (2007) Muscle Biopsy. A Practical Approach
- Dubowitz, V.¹ Sewry, C.A.²

6
- 34547597494
- Two novel mutations in dynamin-2 cause axonal Charcot-Marie-Tooth disease
- DOI 10.1212/01.wnl.0000265820.51075.61, PII 0000611420070717000011
- GM Fabrizi M Ferrarini T Cavallaro, et al. 2007 Two novel mutations in dynamin 2 cause axonal Charcot-Marie-Tooth disease Neurology 69 291 295 10.1212/01.wnl.0000265820.51075.61 1:CAS:528:DC%2BD2sXnsVChur8%3D 17636067 (Pubitemid 47205692)
- (2007) Neurology , vol.69 , Issue.3 , pp. 291-295
- Fabrizi, G.M.¹ Ferrarini, M.² Cavallaro, T.³ Cabrini, I.⁴ Cerini, R.⁵ Bertolasi, L.⁶ Rizzuto, N.⁷

7
- 33745082176
- Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy
- DOI 10.1093/brain/awl071
- D Fischer M Herasse M Bitoun, et al. 2006 Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy Brain 129 69 1463 10.1093/brain/awl071 (Pubitemid 43999379)
- (2006) Brain , vol.129 , Issue.6 , pp. 1463-1469
- Fischer, D.¹ Herasse, M.² Bitoun, M.³ Barragan-Campos, H.M.⁴ Chiras, J.⁵ Laforet, P.⁶ Fardeau, M.⁷ Eymard, B.⁸ Guicheney, P.⁹ Romero, N.B.¹⁰

8
- 57149111504
- Dynamin 2-related centronuclear myopathy: Clinical, histological and genetic aspects of further patients and review of the literature
- 1:STN:280:DC%2BD1M%2FlvFKksg%3D%3D 19130742
- M Jeub M Bitoun P Guicheney, et al. 2008 Dynamin 2-related centronuclear myopathy: clinical, histological and genetic aspects of further patients and review of the literature Clin Neuropathol 27 430 438 1:STN:280: DC%2BD1M%2FlvFKksg%3D%3D 19130742
- (2008) Clin Neuropathol , vol.27 , pp. 430-438
- Jeub, M.¹ Bitoun, M.² Guicheney, P.³

9
- 54849411236
- Centronuclear (myotubular) myopathy
- 10.1186/1750-1172-3-26 18817572
- H Jungbluth C Wallgren-Pettersson J Laporte 2008 Centronuclear (myotubular) myopathy Orphanet J Rare Dis 3 26 10.1186/1750-1172-3-26 18817572
- (2008) Orphanet J Rare Dis , vol.3 , pp. 26
- Jungbluth, H.¹ Wallgren-Pettersson, C.² Laporte, J.³

10
- 70349235329
- 164th ENMC International workshop: 6th workshop on centronuclear (myotubular) myopathies, 16-18th January 2009, Naarden, the Netherlands
- 10.1016/j.nmd.2009.06.373
- H Jungbluth C Wallgren-Pettersson JF Laporte, et al. 2009 164th ENMC International workshop: 6th workshop on centronuclear (myotubular) myopathies, 16-18th January 2009, Naarden, The Netherlands Neuromuscul Dis 19 721 729 10.1016/j.nmd.2009.06.373
- (2009) Neuromuscul Dis , vol.19 , pp. 721-729
- Jungbluth, H.¹ Wallgren-Pettersson, C.² Laporte, J.F.³

11
- 74149093585
- Centronuclear myopathy with cataracts due to a novel dynamin 2 (DNM2) mutation
- 10.1016/j.nmd.2009.10.005
- H Jungbluth T Cullup S Lillis, et al. 2009 Centronuclear myopathy with cataracts due to a novel dynamin 2 (DNM2) mutation Neuromuscul Dis 20 49 52 10.1016/j.nmd.2009.10.005
- (2009) Neuromuscul Dis , vol.20 , pp. 49-52
- Jungbluth, H.¹ Cullup, T.² Lillis, S.³

12
- 74249117317
- Adult course in dynamin 2 dominant centronuclear myopathy with neonatal onset
- A Melberg C Kretz H Kalimo, et al. 2009 Adult course in dynamin 2 dominant centronuclear myopathy with neonatal onset Neuromuscul Dis 20 6 53
- (2009) Neuromuscul Dis , vol.20 , pp. 6-53
- Melberg, A.¹ Kretz, C.² Kalimo, H.³

13
- 34548341774
- Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy
- DOI 10.1038/ng2086, PII NG2086
- AS Nicot A Toussaint V Tosch, et al. 2007 Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy Nat Genet 39 9 1134 10.1038/ng2086 (Pubitemid 47340645)
- (2007) Nature Genetics , vol.39 , Issue.9 , pp. 1134-1139
- Nicot, A.-S.¹ Toussaint, A.² Tosch, V.³ Kretz, C.⁴ Wallgren-Pettersson, C.⁵ Iwarsson, E.⁶ Kingston, H.⁷ Garnier, J.-M.⁸ Biancalana, V.⁹ Oldfors, A.¹⁰ Mandel, J.-L.¹¹ Laporte, J.¹²

14
- 77950930695
- Centronuclear myopathies: A widening concept
- 10.1016/j.nmd.2010.01.014
- NB Romero 2009 Centronuclear myopathies: a widening concept Neuromuscul Disord 20 223 228 10.1016/j.nmd.2010.01.014
- (2009) Neuromuscul Disord , vol.20 , pp. 223-228
- Romero, N.B.¹

15
- 77950919875
- Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy
- 10.1016/j.nmd.2010.02.016 20227276
- RD Susman S Quijano-Roy N Yang, et al. 2010 Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy Neuromuscul Disord 20 229 237 10.1016/j.nmd.2010.02.016 20227276
- (2010) Neuromuscul Disord , vol.20 , pp. 229-237
- Susman, R.D.¹ Quijano-Roy, S.² Yang, N.³

16
- 66149176640
- Mitochondiral alterations in dynamin 2-related centronuclear myopathy
- 10.1590/S0004-282X2009000100023
- E Zanoteli N Vergani Y Campos 2009 Mitochondiral alterations in dynamin 2-related centronuclear myopathy Arq Neuro-Psiquiatr 67 4 102 10.1590/S0004-282X2009000100023
- (2009) Arq Neuro-Psiquiatr , vol.67 , pp. 4-102
- Zanoteli, E.¹ Vergani, N.² Campos, Y.³

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.