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Xin-Ming Shen Selected Research

Congenital Myasthenic Syndromes (Myasthenia Gravis, Congenital)

11/2020Determinants of the repetitive-CMAP occurrence and therapy efficacy in slow-channel myasthenia.
11/2018Congenital myasthenic syndromes in adult neurology clinic: A long road to diagnosis and therapy.
1/2018Mutations causing congenital myasthenia reveal principal coupling pathway in the acetylcholine receptor ε-subunit.
10/2016Mutations Causing Slow-Channel Myasthenia Reveal That a Valine Ring in the Channel Pore of Muscle AChR is Optimized for Stabilizing Channel Gating.
2/2016Investigation of Congenital Myasthenia Reveals Functional Asymmetry of Invariant Acetylcholine Receptor (AChR) Cys-loop Aspartates.
1/2015Congenital myasthenic syndrome in Japan: ethnically unique mutations in muscle nicotinic acetylcholine receptor subunits.
4/2014PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome.
8/2011Beneficial effect of albuterol in congenital myasthenic syndrome with epsilon-subunit mutations.
12/2008hnRNP H enhances skipping of a nonfunctional exon P3A in CHRNA1 and a mutation disrupting its binding causes congenital myasthenic syndrome.
5/2008Congenital myasthenia-related AChR delta subunit mutation interferes with intersubunit communication essential for channel gating.
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Xin-Ming Shen Research Topics

Disease

16Congenital Myasthenic Syndromes (Myasthenia Gravis, Congenital)
11/2020 - 04/2002
3Myasthenia Gravis
01/2021 - 06/2004
2Muscle Weakness
02/2019 - 04/2014
1Rhabdomyolysis
01/2021
1Body Weight (Weight, Body)
01/2021
1Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy)
01/2021
1Fast-Channel Congenital Myasthenic Syndrome
01/2020
1Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease)
06/2019
1Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy)
02/2019
1Muscular Diseases (Myopathy)
10/2017
1Paraproteinemias (Monoclonal Gammopathy)
10/2017
1Nemaline Myopathies (Nemaline Myopathy)
10/2017
1Dysferlinopathy
01/2017
1Myoclonic Epilepsies (Myoclonic Encephalopathy)
10/2016
1Microcephaly
10/2016
1Febrile Seizures (Febrile Seizure)
10/2016
1Epilepsy (Aura)
10/2016
1Amyotrophic Lateral Sclerosis 8
02/2016
1Cystinuria
04/2014
1Type A Cystinuria
04/2014
1Hypotonia-Cystinuria Syndrome
04/2014
1Congenital Structural Myopathies (Centronuclear Myopathy)
12/2012
1Congenital Abnormalities (Deformity)
12/2012
1Apnea
01/2010
1Squamous Cell Carcinoma (Epidermoid Carcinoma)
02/2005
1Nasopharyngeal Carcinoma
02/2005
1Neoplasms (Cancer)
06/2002

Drug/Important Bio-Agent (IBA)

8Cholinergic ReceptorsIBA
01/2020 - 12/2003
5Proteins (Proteins, Gene)FDA Link
06/2019 - 04/2002
2Adrenal Cortex Hormones (Corticosteroids)IBA
01/2021 - 01/2017
2Nicotinic Receptors (Nicotinic Acetylcholine Receptor)IBA
01/2015 - 09/2003
1Cytochrome P-450 CYP3AIBA
01/2021
1Tacrolimus (Prograf)FDA LinkGeneric
01/2021
1Mitochondrial Trifunctional ProteinIBA
01/2021
1Calcium Channel Blockers (Blockers, Calcium Channel)IBA
01/2021
1AntibodiesIBA
06/2019
1LDL Receptors (LDL Receptor)IBA
06/2019
1PrionsIBA
02/2019
1Monoclonal AntibodiesIBA
10/2017
1Amyloid (Amyloid Fibrils)IBA
10/2017
1Syntaxin 1IBA
10/2016
1IgA receptor (protein B)IBA
02/2016
1R-SNARE Proteins (Vesicle-Associated Membrane Protein)IBA
02/2016
1Pyridostigmine Bromide (Pyridostigmine)FDA LinkGeneric
04/2014
1Edrophonium (Tensilon)FDA LinkGeneric
04/2014
1Growth Hormone (Somatotropin)IBA
04/2014
1PlectinIBA
12/2012
1Choline O-Acetyltransferase (Choline Acetyltransferase)IBA
12/2012
1Albuterol (Salbutamol)FDA LinkGeneric
08/2011
1Acetylcholine (Acetylcholine Chloride)FDA Link
01/2010
1Cholinesterase Inhibitors (Anticholinesterases)IBA
01/2010
1AcetylcholinesteraseIBA
01/2010
1Heterogeneous-Nuclear Ribonucleoprotein Group F-HIBA
12/2008
1Protein-Tyrosine Kinases (Tyrosine Kinase)IBA
06/2004
1Cystine (L-Cystine)IBA
02/2003
1Valine (L-Valine)FDA Link
02/2003
1Leucine (L-Leucine)FDA Link
02/2003
1RNA-Directed DNA Polymerase (Reverse Transcriptase)IBA
06/2002
1RNA (Ribonucleic Acid)IBA
06/2002

Therapy/Procedure

3Therapeutics
11/2020 - 04/2014
1Diet Therapy (Therapy, Diet)
01/2021
1Treatment Delay
11/2018
1Thymectomy
11/2018
1Immunotherapy
11/2018