SCOPUS 정보 검색 플랫폼

Volumn 84, Issue 2, 2013, Pages 209-213

Myofibrillary myopathy due to the ZASP mutation Ala147Thr: Two cases with exclusively distal leg involvement;Subakutes Parkinson-Syndrom nach Suizidversuch mit Diazepam

(5) Kraya, T a Kress, W b Stoevesant, D a Deschauer, M a Zierz, S a

a MARTIN LUTHER UNIVERSITY HALLE WITTENBERG (Germany)

b UNIVERSITY OF WÜRZBURG (Germany)

Author keywords

Late onset distal myopathy; Markesbery Griggs; Muscle diseases; Myofibrillary myopathy; ZASP

Indexed keywords

ALANINE; PDZ PROTEIN; THREONINE; UNCLASSIFIED DRUG; Z BAND ALTERNATIVELY SPLICED PDZ MOTIF CONTAINING PROTEIN; LDB3 PROTEIN, HUMAN; LIM PROTEIN; SIGNAL TRANSDUCING ADAPTOR PROTEIN;

ARM WEAKNESS; ARTICLE; CASE REPORT; GENE MUTATION; HUMAN; LIMB WEAKNESS; MUSCLE WEAKNESS; MYOFIBRILLARY MYOPATHY; MYOPATHY; AGED; BIOPSY; DISTAL MYOPATHY; FEMALE; GENETICS; HETEROZYGOTE DETECTION; MUSCULAR DYSTROPHY; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PATHOLOGY; PHENOTYPE; SKELETAL MUSCLE;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; AGED; ALANINE; BIOPSY; DISTAL MYOPATHIES; DNA MUTATIONAL ANALYSIS; FEMALE; HETEROZYGOTE DETECTION; HUMANS; LIM DOMAIN PROTEINS; MAGNETIC RESONANCE IMAGING; MUSCLE WEAKNESS; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES; NEUROLOGIC EXAMINATION; PHENOTYPE; THREONINE;

EID: 84879883280 PISSN: 00282804 EISSN: 14330407 Source Type: Journal
DOI: 10.1007/s00115-012-3689-0 Document Type: Article

Times cited : (6)

References (10)

1
- 11144358221
- Solution structure of ZASP PDZ domain: Implications for sarcomere ultrastructure and enigma family redundancy
- DOI 10.1016/j.str.2004.02.019, PII S0969212604000619
- Au Y, Atkinson RA, Guerrini R et al (2004) Solution structure of ZASP-PDZ domain: implications for sarcomere ultrastructure and enigma family redundancy. Structure 12:611-622 (Pubitemid 38447164)
- (2004) Structure , vol.12 , Issue.4 , pp. 611-622
- Au, Y.¹ Atkinson, R.A.² Guerrini, R.³ Kelly, G.⁴ Joseph, C.⁵ Martin, S.R.⁶ Muskett, F.W.⁷ Pallavicini, A.⁸ Faulkner, G.⁹ Pastore, A.¹⁰

2
- 34250861423
- Zaspopathy in a large classic late-onset distal myopathy family
- DOI 10.1093/brain/awm006
- Griggs R, Vihola A, Hackman P et al (2007) Zaspopathy in a large classic late-onset distal myopathy family. Brain 130:1477-1484 (Pubitemid 47355913)
- (2007) Brain , vol.130 , Issue.6 , pp. 1477-1484
- Griggs, R.¹ Vihola, A.² Hackman, P.³ Talvinen, K.⁴ Haravuori, H.⁵ Faulkner, G.⁶ Eymard, B.⁷ Richard, I.⁸ Selcen, D.⁹ Engel, A.¹⁰ Carpen, O.¹¹ Udd, B.¹²

3
- 0016232978
- Late onset hereditary distal myopathy
- Markesbery WR, Griggs RC, Leach RP, Lapham LW (1974) Late onset hereditary distal myopathy. Neurology 24:127-134
- (1974) Neurology , vol.24 , pp. 127-134
- Markesbery, W.R.¹ Griggs, R.C.² Leach, R.P.³ Lapham, L.W.⁴

4
- 0742305818
- Myofibrillar myopathy: Clinical
- Selcen D, Ohno K, Engel AG (2004) Myofibrillar myopathy: clinical, Morphological and genetic studies in 63 patients. Brain 127:439-451
- (2004) Morphological and Genetic Studies in 63 Patients. Brain , vol.127 , pp. 439-451
- Selcen, D.¹ Ohno, K.² Engel, A.G.³

5
- 1942473823
- Mutations in myotilin cause myofibrillar myopathy
- Selcen D, Engel AG (2004) Mutations in myotilin cause myofibrillar myopathy. Neurology 62:1363-1371 (Pubitemid 38526050)
- (2004) Neurology , vol.62 , Issue.8 , pp. 1363-1371
- Selcen, D.¹ Engel, A.G.²

6
- 13144260646
- Mutations in ZASP define a novel form of muscular dystrophy in humans
- DOI 10.1002/ana.20376
- Selcen D, Engel AG (2005) Mutations in ZASP define a novel form of muscular dystrophy in humans. Ann Neurol 57:269-276 (Pubitemid 40179865)
- (2005) Annals of Neurology , vol.57 , Issue.2 , pp. 269-276
- Selcen, D.¹ Engel, A.G.²

7
- 0034788380
- Distal myopathies
- DOI 10.1097/00019052-200110000-00003
- Udd B, Griggs R (2001) Distal myopathies. Curr Opin Neurol 14:561-566 (Pubitemid 32964574)
- (2001) Current Opinion in Neurology , vol.14 , Issue.5 , pp. 561-566
- Udd, B.¹ Griggs, R.²

8
- 33846286906
- Molecular biology of distal muscular dystrophies-Sarcomeric proteins on top
- DOI 10.1016/j.bbadis.2006.08.005, PII S0925443906001682
- Udd B (2007) Molecular biology of distal muscular dystrophies - sarcomeric proteins on top. Biochim Biophys Acta 1772:145-158 (Pubitemid 46123914)
- (2007) Biochimica et Biophysica Acta - Molecular Basis of Disease , vol.1772 , Issue.2 , pp. 145-158
- Udd, B.¹

9
- 84856005825
- Distal myopathies - New genetic entities expand diagnostic challenge
- Udd B (2012) Distal myopathies - new genetic entities expand diagnostic challenge. Neuromuscul Disord 22:5-12
- (2012) Neuromuscul Disord , vol.22 , pp. 5-12
- Udd, B.¹

10
- 79960928910
- Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy
- Olivé M, Odgerel Z, Martínez A et al (2011) Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy. Neuromuscul Disord 21:533-542
- (2011) Neuromuscul Disord , vol.21 , pp. 533-542
- Olivé, M.¹ Odgerel, Z.² Martínez, A.³

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.