Literature DB >> 23371844

Severe scoliosis in a patient with COLQ mutation and congenital myasthenic syndrome: a clue for diagnosis.

Güntülü Sare Duran1, Tuğçe Aksu Uzunhan, Barış Ekici, Agop Çıtak, Nur Aydınlı, Mine Çalışkan.   

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Year:  2013        PMID： 23371844     DOI： 10.1007/s13760-013-0179-5

Source DB:  PubMed          Journal:  Acta Neurol Belg        ISSN： 0300-9009            Impact factor:   2.396


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  6 in total

1.  Genetic Landscape of Congenital Myasthenic Syndromes From Turkey: Novel Mutations and Clinical Insights.

Authors:  Uluç Yiş; Kerstin Becker; Semra Hız Kurul; Gökhan Uyanik; Erhan Bayram; Göknur Haliloğlu; Ayşe İpek Polat; Müge Ayanoğlu; Derya Okur; Ayşe Fahriye Tosun; Gül Serdaroğlu; Sanem Yilmaz; Haluk Topaloğlu; Banu Anlar; Sebahattin Cirak; Andrew G Engel
Journal:  J Child Neurol       Date:  2017-05-03       Impact factor: 1.987

Review 2.  Ephedrine for myasthenia gravis, neonatal myasthenia and the congenital myasthenic syndromes.

Authors:  Charlotte Vrinten; Angeli M van der Zwaag; Stephanie S Weinreich; Rob J P M Scholten; Jan J G M Verschuuren
Journal:  Cochrane Database Syst Rev       Date:  2014-12-17

3.  Congenital myasthenic syndromes in Turkey: Clinical clues and prognosis with long term follow-up.

Authors:  Hacer Durmus; Xin-Ming Shen; Piraye Serdaroglu-Oflazer; Bulent Kara; Yesim Parman-Gulsen; Coskun Ozdemir; Joan Brengman; Feza Deymeer; Andrew G Engel
Journal:  Neuromuscul Disord       Date:  2017-11-28       Impact factor: 4.296

4.  Congenital myasthenic syndromes.

Authors:  Josef Finsterer
Journal:  Orphanet J Rare Dis       Date:  2019-02-26       Impact factor: 4.123

5.  Long Term Follow-Up on Pediatric Cases With Congenital Myasthenic Syndromes-A Retrospective Single Centre Cohort Study.

Authors:  Adela Della Marina; Eva Wibbeler; Angela Abicht; Heike Kölbel; Hanns Lochmüller; Andreas Roos; Ulrike Schara
Journal:  Front Hum Neurosci       Date:  2020-12-07       Impact factor: 3.169

Review 6.  Inherited disorders of the neuromuscular junction: an update.

Authors:  Pedro M Rodríguez Cruz; Jacqueline Palace; David Beeson
Journal:  J Neurol       Date:  2014-10-11       Impact factor: 4.849
  6 in total

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