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Items: 19

1.

Limb girdle muscular dystrophies: update on genetic diagnosis and therapeutic approaches.

Nigro V, Aurino S, Piluso G.

Curr Opin Neurol. 2011 Oct;24(5):429-36. doi: 10.1097/WCO.0b013e32834aa38d. Review.

PMID:
21825984
2.

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.

3.

Hereditary muscular dystrophies and the heart.

Hermans MC, Pinto YM, Merkies IS, de Die-Smulders CE, Crijns HJ, Faber CG.

Neuromuscul Disord. 2010 Aug;20(8):479-92. doi: 10.1016/j.nmd.2010.04.008. Review.

PMID:
20627570
4.

Efficient identification of novel mutations in patients with limb girdle muscular dystrophy.

Boyden SE, Salih MA, Duncan AR, White AJ, Estrella EA, Burgess SL, Seidahmed MZ, Al-Jarallah AS, Alkhalidi HM, Al-Maneea WM, Bennett RR, Alshemmari SH, Kunkel LM, Kang PB.

Neurogenetics. 2010 Oct;11(4):449-55. doi: 10.1007/s10048-010-0250-9. Epub 2010 Jul 13.

5.

Myopathies caused by homozygous titin mutations: limb-girdle muscular dystrophy 2J and variations of phenotype.

Pénisson-Besnier I, Hackman P, Suominen T, Sarparanta J, Huovinen S, Richard-Crémieux I, Udd B.

J Neurol Neurosurg Psychiatry. 2010 Nov;81(11):1200-2. doi: 10.1136/jnnp.2009.178434. Epub 2010 Jun 22.

PMID:
20571043
6.

Titin diversity--alternative splicing gone wild.

Guo W, Bharmal SJ, Esbona K, Greaser ML.

J Biomed Biotechnol. 2010;2010:753675. doi: 10.1155/2010/753675. Epub 2010 Mar 21. Review.

7.

Structural insight into M-band assembly and mechanics from the titin-obscurin-like-1 complex.

Pernigo S, Fukuzawa A, Bertz M, Holt M, Rief M, Steiner RA, Gautel M.

Proc Natl Acad Sci U S A. 2010 Feb 16;107(7):2908-13. doi: 10.1073/pnas.0913736107. Epub 2010 Feb 1.

8.

Cardiac pathology exceeds skeletal muscle pathology in two cases of limb-girdle muscular dystrophy type 2I.

Margeta M, Connolly AM, Winder TL, Pestronk A, Moore SA.

Muscle Nerve. 2009 Nov;40(5):883-9. doi: 10.1002/mus.21432.

9.

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
10.

Interactions with titin and myomesin target obscurin and obscurin-like 1 to the M-band: implications for hereditary myopathies.

Fukuzawa A, Lange S, Holt M, Vihola A, Carmignac V, Ferreiro A, Udd B, Gautel M.

J Cell Sci. 2008 Jun 1;121(11):1841-51. doi: 10.1242/jcs.028019. Epub 2008 May 13.

11.

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
12.

Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies.

Ferreiro A, Quijano-Roy S, Pichereau C, Moghadaszadeh B, Goemans N, Bönnemann C, Jungbluth H, Straub V, Villanova M, Leroy JP, Romero NB, Martin JJ, Muntoni F, Voit T, Estournet B, Richard P, Fardeau M, Guicheney P.

Am J Hum Genet. 2002 Oct;71(4):739-49. Epub 2002 Aug 21.

13.

A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene.

Ferreiro A, Monnier N, Romero NB, Leroy JP, Bönnemann C, Haenggeli CA, Straub V, Voss WD, Nivoche Y, Jungbluth H, Lemainque A, Voit T, Lunardi J, Fardeau M, Guicheney P.

Ann Neurol. 2002 Jun;51(6):750-9.

PMID:
12112081
14.

Severe progressive form of congenital muscular dystrophy with calf pseudohypertrophy, macroglossia and respiratory insufficiency.

Quijano-Roy S, Galan L, Ferreiro A, Cheliout-Héraut F, Gray F, Fardeau M, Barois A, Guicheney P, Romero NB, Estournet B.

Neuromuscul Disord. 2002 Jun;12(5):466-75.

PMID:
12031620
15.

The complete gene sequence of titin, expression of an unusual approximately 700-kDa titin isoform, and its interaction with obscurin identify a novel Z-line to I-band linking system.

Bang ML, Centner T, Fornoff F, Geach AJ, Gotthardt M, McNabb M, Witt CC, Labeit D, Gregorio CC, Granzier H, Labeit S.

Circ Res. 2001 Nov 23;89(11):1065-72.

16.

The expanding phenotype of laminin alpha2 chain (merosin) abnormalities: case series and review.

Jones KJ, Morgan G, Johnston H, Tobias V, Ouvrier RA, Wilkinson I, North KN.

J Med Genet. 2001 Oct;38(10):649-57. Review.

17.
18.

Multi-minicore disease--searching for boundaries: phenotype analysis of 38 cases.

Ferreiro A, Estournet B, Chateau D, Romero NB, Laroche C, Odent S, Toutain A, Cabello A, Fontan D, dos Santos HG, Haenggeli CA, Bertini E, Urtizberea JA, Guicheney P, Fardeau M.

Ann Neurol. 2000 Nov;48(5):745-57.

PMID:
11079538
19.

A novel form of familial congenital muscular dystrophy in two adolescents.

Salih MA, Al Rayess M, Cutshall S, Urtizberea JA, Al-Turaiki MH, Ozo CO, Straub V, Akbar M, Abid M, Andeejani A, Campbell KP.

Neuropediatrics. 1998 Dec;29(6):289-93.

PMID:
10029346

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