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Items: 1 to 20 of 39

1.

Congenital disorder of glycosylation type Ij (CDG-Ij, DPAGT1-CDG): extending the clinical and molecular spectrum of a rare disease.

Würde AE, Reunert J, Rust S, Hertzberg C, Haverkämper S, Nürnberg G, Nürnberg P, Lehle L, Rossi R, Marquardt T.

Mol Genet Metab. 2012 Apr;105(4):634-41. doi: 10.1016/j.ymgme.2012.01.001. Epub 2012 Jan 9.

PMID:
22304930
2.

186th ENMC international workshop: congenital myasthenic syndromes 24-26 June 2011, Naarden, The Netherlands.

Chaouch A, Beeson D, Hantaï D, Lochmüller H.

Neuromuscul Disord. 2012 Jun;22(6):566-76. doi: 10.1016/j.nmd.2011.12.004. Epub 2012 Jan 9. No abstract available.

PMID:
22230109
3.

Tubular aggregates in skeletal muscle: just a special type of protein aggregates?

Schiaffino S.

Neuromuscul Disord. 2012 Mar;22(3):199-207. doi: 10.1016/j.nmd.2011.10.005. Epub 2011 Dec 10.

PMID:
22154366
4.

Current status of the congenital myasthenic syndromes.

Engel AG.

Neuromuscul Disord. 2012 Feb;22(2):99-111. doi: 10.1016/j.nmd.2011.10.009. Epub 2011 Nov 21. Review.

5.

Endplate contributions to the safety factor for neuromuscular transmission.

Ruff RL.

Muscle Nerve. 2011 Dec;44(6):854-61. doi: 10.1002/mus.22177. Review.

PMID:
22102453
6.

Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations.

Guergueltcheva V, Müller JS, Dusl M, Senderek J, Oldfors A, Lindbergh C, Maxwell S, Colomer J, Mallebrera CJ, Nascimento A, Vilchez JJ, Muelas N, Kirschner J, Nafissi S, Kariminejad A, Nilipour Y, Bozorgmehr B, Najmabadi H, Rodolico C, Sieb JP, Schlotter B, Schoser B, Herrmann R, Voit T, Steinlein OK, Najafi A, Urtizberea A, Soler DM, Muntoni F, Hanna MG, Chaouch A, Straub V, Bushby K, Palace J, Beeson D, Abicht A, Lochmüller H.

J Neurol. 2012 May;259(5):838-50. doi: 10.1007/s00415-011-6262-z. Epub 2011 Oct 6.

PMID:
21975507
7.

The expanding horizons of asparagine-linked glycosylation.

Larkin A, Imperiali B.

Biochemistry. 2011 May 31;50(21):4411-26. doi: 10.1021/bi200346n. Epub 2011 May 4. Review.

8.

Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.

Senderek J, Müller JS, Dusl M, Strom TM, Guergueltcheva V, Diepolder I, Laval SH, Maxwell S, Cossins J, Krause S, Muelas N, Vilchez JJ, Colomer J, Mallebrera CJ, Nascimento A, Nafissi S, Kariminejad A, Nilipour Y, Bozorgmehr B, Najmabadi H, Rodolico C, Sieb JP, Steinlein OK, Schlotter B, Schoser B, Kirschner J, Herrmann R, Voit T, Oldfors A, Lindbergh C, Urtizberea A, von der Hagen M, Hübner A, Palace J, Bushby K, Straub V, Beeson D, Abicht A, Lochmüller H.

Am J Hum Genet. 2011 Feb 11;88(2):162-72. doi: 10.1016/j.ajhg.2011.01.008.

9.

A map of human genome variation from population-scale sequencing.

1000 Genomes Project Consortium, Abecasis GR, Altshuler D, Auton A, Brooks LD, Durbin RM, Gibbs RA, Hurles ME, McVean GA.

Nature. 2010 Oct 28;467(7319):1061-73. doi: 10.1038/nature09534. Erratum in: Nature. 2011 May 26;473(7348):544. Xue, Yali [added]; Cartwright, Reed A [added]; Altshuler, David L [corrected to Altshuler, David]; Kebbel, Andrew [corrected to Keebler, Jonathan]; Koko-Gonzales, Paula [corrected to Kokko-Gonzales, Paula]; Nickerson, Debbie A [corrected to Nickerson, Deborah A].

10.

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data.

Wang K, Li M, Hakonarson H.

Nucleic Acids Res. 2010 Sep;38(16):e164. doi: 10.1093/nar/gkq603. Epub 2010 Jul 3.

11.

A method and server for predicting damaging missense mutations.

Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR.

Nat Methods. 2010 Apr;7(4):248-9. doi: 10.1038/nmeth0410-248. No abstract available.

12.
13.

The Sequence Alignment/Map format and SAMtools.

Li H, Handsaker B, Wysoker A, Fennell T, Ruan J, Homer N, Marth G, Abecasis G, Durbin R; 1000 Genome Project Data Processing Subgroup.

Bioinformatics. 2009 Aug 15;25(16):2078-9. doi: 10.1093/bioinformatics/btp352. Epub 2009 Jun 8.

14.

Reliability of neuromuscular transmission and how it is maintained.

Slater CR.

Handb Clin Neurol. 2008;91:27-101. doi: 10.1016/S0072-9752(07)01502-3. Review. No abstract available.

PMID:
18631840
15.

Screening and diagnosis of congenital disorders of glycosylation.

Marklová E, Albahri Z.

Clin Chim Acta. 2007 Oct;385(1-2):6-20. Epub 2007 Jul 13. Review.

PMID:
17716641
16.

Clinical features of the DOK7 neuromuscular junction synaptopathy.

Palace J, Lashley D, Newsom-Davis J, Cossins J, Maxwell S, Kennett R, Jayawant S, Yamanashi Y, Beeson D.

Brain. 2007 Jun;130(Pt 6):1507-15. Epub 2007 Apr 23.

PMID:
17452375
17.

Dok-7 mutations underlie a neuromuscular junction synaptopathy.

Beeson D, Higuchi O, Palace J, Cossins J, Spearman H, Maxwell S, Newsom-Davis J, Burke G, Fawcett P, Motomura M, Müller JS, Lochmüller H, Slater C, Vincent A, Yamanashi Y.

Science. 2006 Sep 29;313(5795):1975-8. Epub 2006 Aug 17.

18.

Exercise-induced cramp, myoglobinuria, and tubular aggregates in phosphoglycerate mutase deficiency.

Oh SJ, Park KS, Ryan HF Jr, Danon MJ, Lu J, Naini AB, DiMauro S.

Muscle Nerve. 2006 Nov;34(5):572-6.

PMID:
16881065
19.

Pre- and post-synaptic abnormalities associated with impaired neuromuscular transmission in a group of patients with 'limb-girdle myasthenia'.

Slater CR, Fawcett PR, Walls TJ, Lyons PR, Bailey SJ, Beeson D, Young C, Gardner-Medwin D.

Brain. 2006 Aug;129(Pt 8):2061-76.

PMID:
16870884
20.

[Cerebellar ataxia of Norman-Jaeken. Presentation of seven Spanish patients].

Pascual-Castroviejo I, Pascual-Pascual SI, Quijano-Roy S, Gutiérrez-Molina M, Morales MC, Velázquez-Fragua R, Maties M.

Rev Neurol. 2006 Jun 16-30;42(12):723-8. Spanish.

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