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A Abicht

Showing results (21-30 of 34) with videos related to

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Neuromuscular Disorders : NMD|October 20, 2009
Ephedrine therapy in eight patients with congenital myasthenic syndrome due to DOK7 mutationsU Schara, N Barisic, M Deschauer, et al.
Neuropediatrics|January 22, 2003
Congenital myasthenic syndrome (CMS) in three European kinships due to a novel splice mutation (IVS7 - 2 A/G) in the epsilon acetylcholine receptor (AChR) subunit geneN Barisic, C Schmidt, O P Sidorova, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|February 11, 2005
Clinical variability of CMS-EA (congenital myasthenic syndrome with episodic apnea) due to identical CHAT mutations in two infantsN Barisic, J S Müller, E Paucic-Kirincic, et al.
Journal of Medical Genetics|August 3, 2004
The congenital myasthenic syndrome mutation RAPSN N88K derives from an ancient Indo-European founderJ S Müller, A Abicht, G Burke, et al.
Neuromuscular Disorders : NMD|November 19, 2013
Novel TPM3 mutation in a family with cap myopathy and review of the literatureT Schreckenbach, J M Schröder, T Voit, et al.
Journal of Neurology|January 13, 2016
KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitorsD Natera-de Benito, A Nascimento, A Abicht, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|June 22, 2010
Molecular characterisation of congenital myasthenic syndromes in Southern BrazilV Mihaylova, R H Scola, B Gervini, et al.
Neurology|June 11, 2003
Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patientsJ S Müller, G Mildner, W Müller-Felber, et al.
Neurology|December 2, 2009
Refinement of the clinical phenotype in musk-related congenital myasthenic syndromesV Mihaylova, M A M Salih, M M Mukhtar, et al.
Clinical Genetics|June 28, 2017
Extension of the phenotype of biallelic loss-of-function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type IM C Braunisch, H Gallwitz, A Abicht, et al.
Pageof 4

Showing results (21-30 of 34) with videos related to

Sort By:
Pageof 4
Neuromuscular Disorders : NMD|October 20, 2009
Ephedrine therapy in eight patients with congenital myasthenic syndrome due to DOK7 mutationsU Schara, N Barisic, M Deschauer, et al.
Neuropediatrics|January 22, 2003
Congenital myasthenic syndrome (CMS) in three European kinships due to a novel splice mutation (IVS7 - 2 A/G) in the epsilon acetylcholine receptor (AChR) subunit geneN Barisic, C Schmidt, O P Sidorova, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|February 11, 2005
Clinical variability of CMS-EA (congenital myasthenic syndrome with episodic apnea) due to identical CHAT mutations in two infantsN Barisic, J S Müller, E Paucic-Kirincic, et al.
Journal of Medical Genetics|August 3, 2004
The congenital myasthenic syndrome mutation RAPSN N88K derives from an ancient Indo-European founderJ S Müller, A Abicht, G Burke, et al.
Neuromuscular Disorders : NMD|November 19, 2013
Novel TPM3 mutation in a family with cap myopathy and review of the literatureT Schreckenbach, J M Schröder, T Voit, et al.
Journal of Neurology|January 13, 2016
KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitorsD Natera-de Benito, A Nascimento, A Abicht, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|June 22, 2010
Molecular characterisation of congenital myasthenic syndromes in Southern BrazilV Mihaylova, R H Scola, B Gervini, et al.
Neurology|June 11, 2003
Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patientsJ S Müller, G Mildner, W Müller-Felber, et al.
Neurology|December 2, 2009
Refinement of the clinical phenotype in musk-related congenital myasthenic syndromesV Mihaylova, M A M Salih, M M Mukhtar, et al.
Clinical Genetics|June 28, 2017
Extension of the phenotype of biallelic loss-of-function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type IM C Braunisch, H Gallwitz, A Abicht, et al.
Pageof 4