Literature DB >> 23436500

Defective N-linked protein glycosylation pathway in congenital myasthenic syndromes.

Henry Houlden.   

Abstract

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Year:  2013        PMID： 23436500      PMCID： PMC3580274          DOI： 10.1093/brain/awt042

Source DB:  PubMed          Journal:  Brain        ISSN： 0006-8950            Impact factor:   13.501


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  10 in total

1.  186th ENMC international workshop: congenital myasthenic syndromes 24-26 June 2011, Naarden, The Netherlands.

Authors:  Amina Chaouch; David Beeson; Daniel Hantaï; Hanns Lochmüller
Journal:  Neuromuscul Disord       Date:  2012-01-09       Impact factor: 4.296

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

Authors:  A E Würde; J Reunert; S Rust; C Hertzberg; S Haverkämper; G Nürnberg; P Nürnberg; L Lehle; R Rossi; T Marquardt
Journal:  Mol Genet Metab       Date:  2012-01-09       Impact factor: 4.797

3.  A new type of congenital disorders of glycosylation (CDG-Ii) provides new insights into the early steps of dolichol-linked oligosaccharide biosynthesis.

Authors:  Christian Thiel; Markus Schwarz; Jianhe Peng; Michal Grzmil; Martin Hasilik; Thomas Braulke; Alfried Kohlschütter; Kurt von Figura; Ludwig Lehle; Christian Körner
Journal:  J Biol Chem       Date:  2003-04-08       Impact factor: 5.157

Review 4.  Current status of the congenital myasthenic syndromes.

Authors:  Andrew G Engel
Journal:  Neuromuscul Disord       Date:  2011-11-21       Impact factor: 4.296

5.  Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.

Authors:  Jan Senderek; Juliane S Müller; Marina Dusl; Tim M Strom; Velina Guergueltcheva; Irmgard Diepolder; Steven H Laval; Susan Maxwell; Judy Cossins; Sabine Krause; Nuria Muelas; Juan J Vilchez; Jaume Colomer; Cecilia Jimenez Mallebrera; Andres Nascimento; Shahriar Nafissi; Ariana Kariminejad; Yalda Nilipour; Bita Bozorgmehr; Hossein Najmabadi; Carmelo Rodolico; Jörn P Sieb; Ortrud K Steinlein; Beate Schlotter; Benedikt Schoser; Janbernd Kirschner; Ralf Herrmann; Thomas Voit; Anders Oldfors; Christopher Lindbergh; Andoni Urtizberea; Maja von der Hagen; Angela Hübner; Jacqueline Palace; Kate Bushby; Volker Straub; David Beeson; Angela Abicht; Hanns Lochmüller
Journal:  Am J Hum Genet       Date:  2011-02-11       Impact factor: 11.025

Review 6.  The expanding horizons of asparagine-linked glycosylation.

Authors:  Angelyn Larkin; Barbara Imperiali
Journal:  Biochemistry       Date:  2011-05-04       Impact factor: 3.162

Review 7.  Congenital myasthenic syndrome: a brief review.

Authors:  Paulo José Lorenzoni; Rosana Herminia Scola; Cláudia Suemi Kamoi Kay; Lineu Cesar Werneck
Journal:  Pediatr Neurol       Date:  2012-03       Impact factor: 3.372

8.  Congenital myasthenic syndromes: achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: a study of 680 patients.

Authors:  Angela Abicht; Marina Dusl; Constanze Gallenmüller; Velina Guergueltcheva; Ulrike Schara; Adele Della Marina; Eva Wibbeler; Sybille Almaras; Violeta Mihaylova; Maja von der Hagen; Angela Huebner; Amina Chaouch; Juliane S Müller; Hanns Lochmüller
Journal:  Hum Mutat       Date:  2012-06-27       Impact factor: 4.878

9.  Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates.

Authors:  Katsiaryna Belaya; Sarah Finlayson; Clarke R Slater; Judith Cossins; Wei Wei Liu; Susan Maxwell; Simon J McGowan; Siarhei Maslau; Stephen R F Twigg; Timothy J Walls; Samuel I Pascual Pascual; Jacqueline Palace; David Beeson
Journal:  Am J Hum Genet       Date:  2012-06-27       Impact factor: 11.025

10.  Congenital myasthenic syndromes due to mutations in ALG2 and ALG14.

Authors:  Judith Cossins; Katsiaryna Belaya; Debbie Hicks; Mustafa A Salih; Sarah Finlayson; Nicola Carboni; Wei Wei Liu; Susan Maxwell; Katarzyna Zoltowska; Golara Torabi Farsani; Steven Laval; Mohammed Zain Seidhamed; Peter Donnelly; David Bentley; Simon J McGowan; Juliane Müller; Jacqueline Palace; Hanns Lochmüller; David Beeson
Journal:  Brain       Date:  2013-02-11       Impact factor: 13.501
  10 in total
  5 in total

Review 1.  Neurological aspects of human glycosylation disorders.

Authors:  Hudson H Freeze; Erik A Eklund; Bobby G Ng; Marc C Patterson
Journal:  Annu Rev Neurosci       Date:  2015-04-02       Impact factor: 12.449

Review 2.  Solving glycosylation disorders: fundamental approaches reveal complicated pathways.

Authors:  Hudson H Freeze; Jessica X Chong; Michael J Bamshad; Bobby G Ng
Journal:  Am J Hum Genet       Date:  2014-02-06       Impact factor: 11.025

3.  Limb girdle myasthenia with digenic RAPSN and a novel disease gene AK9 mutations.

Authors:  Ching-Wan Lam; Ka-Sing Wong; Ho-Wan Leung; Chun-Yiu Law
Journal:  Eur J Hum Genet       Date:  2016-12-14       Impact factor: 4.246

4.  DPAGT1-CDG: Functional analysis of disease-causing pathogenic mutations and role of endoplasmic reticulum stress.

Authors:  Patricia Yuste-Checa; Ana I Vega; Cristina Martín-Higueras; Celia Medrano; Alejandra Gámez; Lourdes R Desviat; Magdalena Ugarte; Celia Pérez-Cerdá; Belén Pérez
Journal:  PLoS One       Date:  2017-06-29       Impact factor: 3.240

5.  Genetic defects are common in myopathies with tubular aggregates.

Authors:  Qiang Gang; Conceição Bettencourt; Stefen Brady; Janice L Holton; Estelle G Healy; John McConville; Patrick J Morrison; Michela Ripolone; Raffaella Violano; Monica Sciacco; Maurizio Moggio; Marina Mora; Renato Mantegazza; Simona Zanotti; Zhaoxia Wang; Yun Yuan; Wei-Wei Liu; David Beeson; Michael Hanna; Henry Houlden
Journal:  Ann Clin Transl Neurol       Date:  2021-12-15       Impact factor: 5.430
  5 in total

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