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Items: 1 to 20 of 31

1.

ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome.

Willer T, Lee H, Lommel M, Yoshida-Moriguchi T, de Bernabe DB, Venzke D, Cirak S, Schachter H, Vajsar J, Voit T, Muntoni F, Loder AS, Dobyns WB, Winder TL, Strahl S, Mathews KD, Nelson SF, Moore SA, Campbell KP.

Nat Genet. 2012 May;44(5):575-80. doi: 10.1038/ng.2252.

2.

A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis.

Mitsuhashi S, Ohkuma A, Talim B, Karahashi M, Koumura T, Aoyama C, Kurihara M, Quinlivan R, Sewry C, Mitsuhashi H, Goto K, Koksal B, Kale G, Ikeda K, Taguchi R, Noguchi S, Hayashi YK, Nonaka I, Sher RB, Sugimoto H, Nakagawa Y, Cox GA, Topaloglu H, Nishino I.

Am J Hum Genet. 2011 Jun 10;88(6):845-851. doi: 10.1016/j.ajhg.2011.05.010.

3.

173rd ENMC International Workshop: congenital muscular dystrophy outcome measures 5-7 March 2010, Naarden, The Netherlands.

Bönnemann CG, Rutkowski A, Mercuri E, Muntoni F; CMD Outcomes Consortium.

Neuromuscul Disord. 2011 Jul;21(7):513-22. doi: 10.1016/j.nmd.2011.04.004. Epub 2011 Jun 8. No abstract available.

4.

Consensus statement on standard of care for congenital muscular dystrophies.

Wang CH, Bonnemann CG, Rutkowski A, Sejersen T, Bellini J, Battista V, Florence JM, Schara U, Schuler PM, Wahbi K, Aloysius A, Bash RO, Béroud C, Bertini E, Bushby K, Cohn RD, Connolly AM, Deconinck N, Desguerre I, Eagle M, Estournet-Mathiaud B, Ferreiro A, Fujak A, Goemans N, Iannaccone ST, Jouinot P, Main M, Melacini P, Mueller-Felber W, Muntoni F, Nelson LL, Rahbek J, Quijano-Roy S, Sewry C, Storhaug K, Simonds A, Tseng B, Vajsar J, Vianello A, Zeller R; International Standard of Care Committee for Congenital Muscular Dystrophy.

J Child Neurol. 2010 Dec;25(12):1559-81. doi: 10.1177/0883073810381924. Epub 2010 Nov 15. Review.

5.

Early onset collagen VI myopathies: Genetic and clinical correlations.

Briñas L, Richard P, Quijano-Roy S, Gartioux C, Ledeuil C, Lacène E, Makri S, Ferreiro A, Maugenre S, Topaloglu H, Haliloglu G, Pénisson-Besnier I, Jeannet PY, Merlini L, Navarro C, Toutain A, Chaigne D, Desguerre I, de Die-Smulders C, Dunand M, Echenne B, Eymard B, Kuntzer T, Maincent K, Mayer M, Plessis G, Rivier F, Roelens F, Stojkovic T, Taratuto AL, Lubieniecki F, Monges S, Tranchant C, Viollet L, Romero NB, Estournet B, Guicheney P, Allamand V.

Ann Neurol. 2010 Oct;68(4):511-20. doi: 10.1002/ana.22087.

PMID:
20976770
6.

166th ENMC International Workshop on Collagen type VI-related Myopathies, 22-24 May 2009, Naarden, The Netherlands.

Allamand V, Merlini L, Bushby K; Consortium for Collagen VI-Related Myopathies.

Neuromuscul Disord. 2010 May;20(5):346-54. doi: 10.1016/j.nmd.2010.02.012. Epub 2010 Mar 7. No abstract available.

PMID:
20211562
7.

Congenital muscular dystrophy with defective alpha-dystroglycan, cerebellar hypoplasia, and epilepsy.

Messina S, Tortorella G, Concolino D, Spanò M, D'Amico A, Bruno C, Santorelli FM, Mercuri E, Bertini E.

Neurology. 2009 Nov 10;73(19):1599-601. doi: 10.1212/WNL.0b013e3181c0d47a. No abstract available.

PMID:
19901254
8.

Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population.

Norwood FL, Harling C, Chinnery PF, Eagle M, Bushby K, Straub V.

Brain. 2009 Nov;132(Pt 11):3175-86. doi: 10.1093/brain/awp236. Epub 2009 Sep 18.

9.

Natural history of Ullrich congenital muscular dystrophy.

Nadeau A, Kinali M, Main M, Jimenez-Mallebrera C, Aloysius A, Clement E, North B, Manzur AY, Robb SA, Mercuri E, Muntoni F.

Neurology. 2009 Jul 7;73(1):25-31. doi: 10.1212/WNL.0b013e3181aae851.

PMID:
19564581
10.

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
11.

Differential diagnosis of congenital muscular dystrophies.

Klein A, Clement E, Mercuri E, Muntoni F.

Eur J Paediatr Neurol. 2008 Sep;12(5):371-7. doi: 10.1016/j.ejpn.2007.10.002. Epub 2007 Dec 3.

PMID:
18588847
12.

De novo LMNA mutations cause a new form of congenital muscular dystrophy.

Quijano-Roy S, Mbieleu B, Bönnemann CG, Jeannet PY, Colomer J, Clarke NF, Cuisset JM, Roper H, De Meirleir L, D'Amico A, Ben Yaou R, Nascimento A, Barois A, Demay L, Bertini E, Ferreiro A, Sewry CA, Romero NB, Ryan M, Muntoni F, Guicheney P, Richard P, Bonne G, Estournet B.

Ann Neurol. 2008 Aug;64(2):177-86. doi: 10.1002/ana.21417.

PMID:
18551513
13.

Diagnosis and etiology of congenital muscular dystrophy.

Peat RA, Smith JM, Compton AG, Baker NL, Pace RA, Burkin DJ, Kaufman SJ, Lamandé SR, North KN.

Neurology. 2008 Jul 29;71(5):312-21. Epub 2007 Dec 26.

PMID:
18160674
14.

Primary collagen VI deficiency is the second most common congenital muscular dystrophy in Japan.

Okada M, Kawahara G, Noguchi S, Sugie K, Murayama K, Nonaka I, Hayashi YK, Nishino I.

Neurology. 2007 Sep 4;69(10):1035-42.

PMID:
17785673
15.

Inflammation and response to steroid treatment in limb-girdle muscular dystrophy 2I.

Darin N, Kroksmark AK, Ahlander AC, Moslemi AR, Oldfors A, Tulinius M.

Eur J Paediatr Neurol. 2007 Nov;11(6):353-7. Epub 2007 Apr 18.

PMID:
17446099
16.

C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy.

Carmignac V, Salih MA, Quijano-Roy S, Marchand S, Al Rayess MM, Mukhtar MM, Urtizberea JA, Labeit S, Guicheney P, Leturcq F, Gautel M, Fardeau M, Campbell KP, Richard I, Estournet B, Ferreiro A.

Ann Neurol. 2007 Apr;61(4):340-51. Erratum in: Ann Neurol. 2012 May;71(5):728.

PMID:
17444505
17.

Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy.

Godfrey C, Escolar D, Brockington M, Clement EM, Mein R, Jimenez-Mallebrera C, Torelli S, Feng L, Brown SC, Sewry CA, Rutherford M, Shapira Y, Abbs S, Muntoni F.

Ann Neurol. 2006 Nov;60(5):603-10.

PMID:
17044012
18.

Respiratory involvement in inherited primary muscle conditions.

Shahrizaila N, Kinnear WJ, Wills AJ.

J Neurol Neurosurg Psychiatry. 2006 Oct;77(10):1108-15. Review.

19.

A new form of congenital muscular dystrophy with joint hyperlaxity maps to 3p23-21.

Tétreault M, Duquette A, Thiffault I, Bherer C, Jarry J, Loisel L, Banwell B, D'Anjou G, Mathieu J, Robitaille Y, Vanasse M, Brais B.

Brain. 2006 Aug;129(Pt 8):2077-84. Epub 2006 Jun 7.

PMID:
16760198
20.

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

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