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Items: 1 to 20 of 94

1.

Infantile muscular dystrophy in Canadian aboriginals is an αB-crystallinopathy.

Del Bigio MR, Chudley AE, Sarnat HB, Campbell C, Goobie S, Chodirker BN, Selcen D.

Ann Neurol. 2011 May;69(5):866-71. doi: 10.1002/ana.22331. Epub 2011 Feb 18.

2.

Infantile onset myofibrillar myopathy due to recessive CRYAB mutations.

Forrest KM, Al-Sarraj S, Sewry C, Buk S, Tan SV, Pitt M, Durward A, McDougall M, Irving M, Hanna MG, Matthews E, Sarkozy A, Hudson J, Barresi R, Bushby K, Jungbluth H, Wraige E.

Neuromuscul Disord. 2011 Jan;21(1):37-40. doi: 10.1016/j.nmd.2010.11.003. Epub 2010 Dec 3.

PMID:
21130652
3.

Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients.

Selcen D, Ohno K, Engel AG.

Brain. 2004 Feb;127(Pt 2):439-51. Epub 2004 Jan 7.

4.

Mutation in BAG3 causes severe dominant childhood muscular dystrophy.

Selcen D, Muntoni F, Burton BK, Pegoraro E, Sewry C, Bite AV, Engel AG.

Ann Neurol. 2009 Jan;65(1):83-9. doi: 10.1002/ana.21553.

5.

A homozygous mutation in the SCO2 gene causes a spinal muscular atrophy like presentation with stridor and respiratory insufficiency.

Pronicki M, Kowalski P, Piekutowska-Abramczuk D, Taybert J, Karkucinska-Wieckowska A, Szymanska-Debinska T, Karczmarewicz E, Pajdowska M, Migdal M, Milewska-Bobula B, Sykut-Cegielska J, Popowska E.

Eur J Paediatr Neurol. 2010 May;14(3):253-60. doi: 10.1016/j.ejpn.2009.09.008. Epub 2009 Oct 29.

PMID:
19879173
6.

Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study.

Claeys KG, van der Ven PF, Behin A, Stojkovic T, Eymard B, Dubourg O, Laforêt P, Faulkner G, Richard P, Vicart P, Romero NB, Stoltenburg G, Udd B, Fardeau M, Voit T, Fürst DO.

Acta Neuropathol. 2009 Mar;117(3):293-307. doi: 10.1007/s00401-008-0479-7. Epub 2009 Jan 17.

PMID:
19151983
7.

Mutations in myotilin cause myofibrillar myopathy.

Selcen D, Engel AG.

Neurology. 2004 Apr 27;62(8):1363-71. Erratum in: Neurology. 2004 Jul 27;63(2):405.

PMID:
15111675
8.

Molecular mechanisms of α-crystallinopathy and its therapeutic strategy.

Sanbe A.

Biol Pharm Bull. 2011;34(11):1653-8. Review.

9.

Mutations in ZASP define a novel form of muscular dystrophy in humans.

Selcen D, Engel AG.

Ann Neurol. 2005 Feb;57(2):269-76.

PMID:
15668942
10.

The p.G154S mutation of the alpha-B crystallin gene (CRYAB) causes late-onset distal myopathy.

Reilich P, Schoser B, Schramm N, Krause S, Schessl J, Kress W, Müller-Höcker J, Walter MC, Lochmuller H.

Neuromuscul Disord. 2010 Apr;20(4):255-9. doi: 10.1016/j.nmd.2010.01.012. Epub 2010 Feb 19.

PMID:
20171888
11.

Clinical and molecular characterization of patients with limb-girdle muscular dystrophy type 2I.

Boito CA, Melacini P, Vianello A, Prandini P, Gavassini BF, Bagattin A, Siciliano G, Angelini C, Pegoraro E.

Arch Neurol. 2005 Dec;62(12):1894-9.

PMID:
16344347
12.

Prevention of aberrant protein aggregation by anchoring the molecular chaperone αB-crystallin to the endoplasmic reticulum.

Yamamoto S, Yamashita A, Arakaki N, Nemoto H, Yamazaki T.

Biochem Biophys Res Commun. 2014 Dec 12;455(3-4):241-5. doi: 10.1016/j.bbrc.2014.10.151. Epub 2014 Nov 6.

PMID:
25449278
13.

Fatal infantile neuromuscular presentation of glycogen storage disease type IV.

Tay SK, Akman HO, Chung WK, Pike MG, Muntoni F, Hays AP, Shanske S, Valberg SJ, Mickelson JR, Tanji K, DiMauro S.

Neuromuscul Disord. 2004 Apr;14(4):253-60.

PMID:
15019703
14.

Desmin myopathy.

Goldfarb LG, Vicart P, Goebel HH, Dalakas MC.

Brain. 2004 Apr;127(Pt 4):723-34. Epub 2004 Jan 14. Review.

15.

Severe infantile neuropathy with diaphragmatic weakness and its relationship to SMARD1.

Pitt M, Houlden H, Jacobs J, Mok Q, Harding B, Reilly M, Surtees R.

Brain. 2003 Dec;126(Pt 12):2682-92. Epub 2003 Sep 23.

16.

Synaptic defects in type I spinal muscular atrophy in human development.

Martínez-Hernández R, Bernal S, Also-Rallo E, Alías L, Barceló MJ, Hereu M, Esquerda JE, Tizzano EF.

J Pathol. 2013 Jan;229(1):49-61. doi: 10.1002/path.4080.

PMID:
22847626
17.

Myofibrillar myopathy caused by novel dominant negative alpha B-crystallin mutations.

Selcen D, Engel AG.

Ann Neurol. 2003 Dec;54(6):804-10.

PMID:
14681890
18.

The myopathology of floppy and hypotonic infants in Singapore.

Premasiri MK, Lee YS.

Pathology. 2003 Oct;35(5):409-13.

PMID:
14555385
19.

Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene.

Ilkovski B, Cooper ST, Nowak K, Ryan MM, Yang N, Schnell C, Durling HJ, Roddick LG, Wilkinson I, Kornberg AJ, Collins KJ, Wallace G, Gunning P, Hardeman EC, Laing NG, North KN.

Am J Hum Genet. 2001 Jun;68(6):1333-43. Epub 2001 Apr 27.

20.

Reducing bodies and myofibrillar myopathy features in FHL1 muscular dystrophy.

Selcen D, Bromberg MB, Chin SS, Engel AG.

Neurology. 2011 Nov 29;77(22):1951-9. doi: 10.1212/WNL.0b013e31823a0ebe. Epub 2011 Nov 16.

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