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Journal of Neurology

Volumn 257, Issue 4, 2010, Pages 658-660

Autosomal dominant nemaline myopathy caused by a novel α-tropomyosin 3 mutation

(6) Kiphuth, I C a Krause, S b Huttner, H B a Dekomien, G c Struffert, T a Schroder R a

a UNIVERSITY OF ERLANGEN NUREMBERG (Germany)

b LUDWIG MAXIMILIANS UNIVERSITY (Germany)

c RUHR UNIVERSITY BOCHUM (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA TROPOMYOSIN;

ADULT; AIRWAY PRESSURE; ARTICLE; ASSISTED VENTILATION; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CLINICAL FEATURE; DYSPNEA; ELECTROMYOGRAPHY; EXON; FACE WEAKNESS; FEMALE; GENE MUTATION; HUMAN; MISSENSE MUTATION; MUSCLE BIOPSY; MUSCLE WEAKNESS; MYOPATHY; NEMALINE MYOPATHY; NEUROLOGIC EXAMINATION; PRIORITY JOURNAL; RESPIRATORY FAILURE; RESPIRATORY TRACT DISEASE; SCOLIOSIS; TOTAL LUNG CAPACITY; VITAL CAPACITY; WEAKNESS; WHOLE BODY MRI;

ANIMALS; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GERMANY; HUMANS; MAGNETIC RESONANCE IMAGING; MIDDLE AGED; MUSCLE, SKELETAL; MUTATION; MYOPATHIES, NEMALINE; SEQUENCE ALIGNMENT; TROPOMYOSIN; YOUNG ADULT;

EID: 77951255913 PISSN: 03405354 EISSN: 14321459 Source Type: Journal
DOI: 10.1007/s00415-009-5413-y Document Type: Article

Times cited : (27)

References (8)

1
- 0001313262
- Nemaline myopathy. A new congenital myopathy
- 10.1093/brain/86.4.793 1:STN:280:DyaF2c%2FkvVajsA%3D%3D 14090530
- GM Shy WK Engel JE Somers T Wanko 1963 Nemaline myopathy. A new congenital myopathy Brain 86 793 810 10.1093/brain/86.4.793 1:STN:280: DyaF2c%2FkvVajsA%3D%3D 14090530
- (1963) Brain , vol.86 , pp. 793-810
- Shy, G.M.¹ Engel, W.K.² Somers, J.E.³ Wanko, T.⁴

2
- 50149086514
- Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin
- 10.1038/ejhg.2008.60 1:CAS:528:DC%2BD1cXhtVWnsbvF 18382475
- VL Lehtokari K Pelin K Donner, et al. 2008 Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin Eur J Hum Genet 16 1055 1061 10.1038/ejhg.2008.60 1:CAS:528:DC%2BD1cXhtVWnsbvF 18382475
- (2008) Eur J Hum Genet , vol.16 , pp. 1055-1061
- Lehtokari, V.L.¹ Pelin, K.² Donner, K.³

3
- 69549129388
- Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1)
- 10.1002/humu.21059 1:CAS:528:DC%2BD1MXhtFyqtL7E 19562689
- NG Laing DE Dye C Wallgren-Pettersson, et al. 2009 Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1) Hum Mutat 30 1267 1277 10.1002/humu.21059 1:CAS:528:DC%2BD1MXhtFyqtL7E 19562689
- (2009) Hum Mutat , vol.30 , pp. 1267-1277
- Laing, N.G.¹ Dye, D.E.² Wallgren-Pettersson, C.³

4
- 33748360319
- Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy
- DOI 10.1002/humu.20370
- VL Lehtokari K Pelin M Sandbacka, et al. 2006 Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy Hum Mutat 27 946 956 10.1002/humu.20370 1:CAS:528:DC%2BD28XhtFShu7fE 16917880 (Pubitemid 44336945)
- (2006) Human Mutation , vol.27 , Issue.9 , pp. 946-956
- Lehtokari, V.-L.¹ Pelin, K.² Sandbacka, M.³ Ranta, S.⁴ Donner, K.⁵ Muntoni, F.⁶ Sewry, C.⁷ Angelini, C.⁸ Bushby, K.⁹ Van Den Bergh, P.¹⁰ Iannaccone, S.¹¹ Laing, N.G.¹² Wallgren-Pettersson, C.¹³

5
- 0028852835
- A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy
- 10.1038/ng0195-75 1:CAS:528:DyaK2MXjtFCrtro%3D 7704029
- NG Laing SD Wilton PA Akkari, et al. 1995 A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy Nat Genet 9 75 79 10.1038/ng0195-75 1:CAS:528:DyaK2MXjtFCrtro%3D 7704029
- (1995) Nat Genet , vol.9 , pp. 75-79
- Laing, N.G.¹ Wilton, S.D.² Akkari, P.A.³

6
- 0037183536
- Mutations of the slow muscle α-tropomyosin gene, TPM3, are a rare cause of nemaline myopathy
- D Wattanasirichaigoon KJ Swoboda F Takada, et al. 2002 Mutations of the slow muscle alpha-tropomyosin gene, TPM3, are a rare cause of nemaline myopathy Neurology 59 613 617 1:CAS:528:DC%2BD38XntlSrtrw%3D 12196661 (Pubitemid 34920001)
- (2002) Neurology , vol.59 , Issue.4 , pp. 613-617
- Wattanasirichaigoon, D.¹ Swoboda, K.J.² Takada, F.³ Tong, H.-Q.⁴ Lip, V.⁵ Iannaccone, S.T.⁶ Wallgren-Pettersson, C.⁷ Laing, N.G.⁸ Beggs, A.H.⁹

7
- 41849085932
- Mutations in TPM3 are a common cause of congenital fiber type disproportion
- DOI 10.1002/ana.21308
- NF Clarke H Kolski DE Dye, et al. 2008 Mutations in TPM3 are a common cause of congenital fiber type disproportion Ann Neurol 63 329 337 10.1002/ana.21308 1:CAS:528:DC%2BD1cXlt1CktL4%3D 18300303 (Pubitemid 351499862)
- (2008) Annals of Neurology , vol.63 , Issue.3 , pp. 329-337
- Clarke, N.F.¹ Kolski, H.² Dye, D.E.³ Lim, E.⁴ Smith, R.L.L.⁵ Patel, R.⁶ Fahey, M.C.⁷ Bellance, R.⁸ Romero, N.B.⁹ Johnson, E.S.¹⁰ Labarre-Vila, A.¹¹ Monnier, N.¹² Laing, N.G.¹³ North, K.N.¹⁴

8
- 67650034772
- TPM3 mutation in one of the original cases of cap disease
- 10.1212/WNL.0b013e3181a82659 19487656
- M Ohlsson A Fidzianska H Tajsharghi A Oldfors 2009 TPM3 mutation in one of the original cases of cap disease Neurology 72 1961 1963 10.1212/WNL. 0b013e3181a82659 19487656
- (2009) Neurology , vol.72 , pp. 1961-1963
- Ohlsson, M.¹ Fidzianska, A.² Tajsharghi, H.³ Oldfors, A.⁴

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.