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Items: 1 to 20 of 63

1.

A population-based study of autosomal-recessive disease-causing mutations in a founder population.

Chong JX, Ouwenga R, Anderson RL, Waggoner DJ, Ober C.

Am J Hum Genet. 2012 Oct 5;91(4):608-20. doi: 10.1016/j.ajhg.2012.08.007. Epub 2012 Sep 13.

2.

Myoglobinuria and muscle pain are common in patients with limb-girdle muscular dystrophy 2I.

Mathews KD, Stephan CM, Laubenthal K, Winder TL, Michele DE, Moore SA, Campbell KP.

Neurology. 2011 Jan 11;76(2):194-5. doi: 10.1212/WNL.0b013e3182061ad4. No abstract available.

3.

Congenital encephalo-ophthalmic dysplasia.

KRAUSE AC.

Arch Ophthal. 1946 Oct;36(4):387-44. No abstract available.

PMID:
21002031
4.

Zebrafish models for human FKRP muscular dystrophies.

Kawahara G, Guyon JR, Nakamura Y, Kunkel LM.

Hum Mol Genet. 2010 Feb 15;19(4):623-33. doi: 10.1093/hmg/ddp528. Epub 2009 Dec 1.

5.

Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.

Mercuri E, Messina S, Bruno C, Mora M, Pegoraro E, Comi GP, D'Amico A, Aiello C, Biancheri R, Berardinelli A, Boffi P, Cassandrini D, Laverda A, Moggio M, Morandi L, Moroni I, Pane M, Pezzani R, Pichiecchio A, Pini A, Minetti C, Mongini T, Mottarelli E, Ricci E, Ruggieri A, Saredi S, Scuderi C, Tessa A, Toscano A, Tortorella G, Trevisan CP, Uggetti C, Vasco G, Santorelli FM, Bertini E.

Neurology. 2009 May 26;72(21):1802-9. doi: 10.1212/01.wnl.0000346518.68110.60. Epub 2009 Mar 18.

PMID:
19299310
6.

Reduced expression of fukutin related protein in mice results in a model for fukutin related protein associated muscular dystrophies.

Ackroyd MR, Skordis L, Kaluarachchi M, Godwin J, Prior S, Fidanboylu M, Piercy RJ, Muntoni F, Brown SC.

Brain. 2009 Feb;132(Pt 2):439-51. doi: 10.1093/brain/awn335. Epub 2009 Jan 20.

PMID:
19155270
7.

Muscular dystrophies due to glycosylation defects.

Muntoni F, Torelli S, Brockington M.

Neurotherapeutics. 2008 Oct;5(4):627-32. doi: 10.1016/j.nurt.2008.08.005. Review.

8.

Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.

Godfrey C, Clement E, Mein R, Brockington M, Smith J, Talim B, Straub V, Robb S, Quinlivan R, Feng L, Jimenez-Mallebrera C, Mercuri E, Manzur AY, Kinali M, Torelli S, Brown SC, Sewry CA, Bushby K, Topaloglu H, North K, Abbs S, Muntoni F.

Brain. 2007 Oct;130(Pt 10):2725-35. Epub 2007 Sep 18.

PMID:
17878207
9.

A novel FKRP mutation in congenital muscular dystrophy disrupts the dystrophin glycoprotein complex.

MacLeod H, Pytel P, Wollmann R, Chelmicka-Schorr E, Silver K, Anderson RB, Waggoner D, McNally EM.

Neuromuscul Disord. 2007 Apr;17(4):285-9. Epub 2007 Mar 1.

PMID:
17336067
10.

Endurance training: an effective and safe treatment for patients with LGMD2I.

Sveen ML, Jeppesen TD, Hauerslev S, Krag TO, Vissing J.

Neurology. 2007 Jan 2;68(1):59-61.

PMID:
17200494
11.

High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark.

Sveen ML, Schwartz M, Vissing J.

Ann Neurol. 2006 May;59(5):808-15.

PMID:
16634037
12.

Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations.

Mercuri E, Topaloglu H, Brockington M, Berardinelli A, Pichiecchio A, Santorelli F, Rutherford M, Talim B, Ricci E, Voit T, Muntoni F.

Arch Neurol. 2006 Feb;63(2):251-7.

PMID:
16476814
13.

Hutterite brothers both affected with two forms of limb girdle muscular dystrophy: LGMD2H and LGMD2I.

Frosk P, Del Bigio MR, Wrogemann K, Greenberg CR.

Eur J Hum Genet. 2005 Aug;13(8):978-82.

14.

LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype.

Schwartz M, Hertz JM, Sveen ML, Vissing J.

Neurology. 2005 May 10;64(9):1635-7.

PMID:
15883334
15.

Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome.

Currier SC, Lee CK, Chang BS, Bodell AL, Pai GS, Job L, Lagae LG, Al-Gazali LI, Eyaid WM, Enns G, Dobyns WB, Walsh CA.

Am J Med Genet A. 2005 Feb 15;133A(1):53-7.

PMID:
15637732
16.

The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations.

Frosk P, Greenberg CR, Tennese AA, Lamont R, Nylen E, Hirst C, Frappier D, Roslin NM, Zaik M, Bushby K, Straub V, Zatz M, de Paula F, Morgan K, Fujiwara TM, Wrogemann K.

Hum Mutat. 2005 Jan;25(1):38-44.

PMID:
15580560
17.

Fukutin-related protein mutations that cause congenital muscular dystrophy result in ER-retention of the mutant protein in cultured cells.

Esapa CT, McIlhinney RA, Blake DJ.

Hum Mol Genet. 2005 Jan 15;14(2):295-305. Epub 2004 Dec 1.

PMID:
15574464
18.

Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I.

Poppe M, Bourke J, Eagle M, Frosk P, Wrogemann K, Greenberg C, Muntoni F, Voit T, Straub V, Hilton-Jones D, Shirodaria C, Bushby K.

Ann Neurol. 2004 Nov;56(5):738-41.

PMID:
15505776
19.

The congenital muscular dystrophies in 2004: a century of exciting progress.

Muntoni F, Voit T.

Neuromuscul Disord. 2004 Oct;14(10):635-49. Review.

PMID:
15351421
20.

Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome.

Beltran-Valero de Bernabé D, Voit T, Longman C, Steinbrecher A, Straub V, Yuva Y, Herrmann R, Sperner J, Korenke C, Diesen C, Dobyns WB, Brunner HG, van Bokhoven H, Brockington M, Muntoni F.

J Med Genet. 2004 May;41(5):e61. No abstract available.

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