Gianina Ravenscroft Selected Research

Multiple pterygium syndrome

6/2017	Lethal multiple pterygium syndrome: A severe phenotype associated with a novel mutation in the nebulin gene.
2/2013	Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations.

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Gianina Ravenscroft Research Topics

Disease

10	Muscular Diseases (Myopathy) 11/2022 - 02/2013
7	Nemaline Myopathies (Nemaline Myopathy) 01/2020 - 12/2010
3	Arthrogryposis 01/2022 - 02/2013
2	type 1 Pena Shokeir syndrome 12/2018 - 06/2017
2	Multiple pterygium syndrome 06/2017 - 02/2013
2	Muscle Weakness 11/2015 - 01/2012
2	Dilated Cardiomyopathy (Cardiomyopathy, Congestive) 08/2014 - 09/2010
1	Muscular Atrophy (Muscle Atrophy) 11/2022
1	Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy) 01/2022
1	Peripheral Nervous System Diseases (PNS Diseases) 01/2022
1	Fasciculation (Fasciculations) 10/2020
1	Glycogen Storage Disease Type V (McArdle's Disease) 01/2020
1	Disease Progression 01/2020
1	Rare Diseases (Rare Disease) 01/2018
1	Neuromuscular Diseases (Neuromuscular Disease) 11/2015
1	Hypokinesia (Bradykinesia) 11/2015
1	Congenital Structural Myopathies (Centronuclear Myopathy) 08/2014
1	familial dilated cardiomyopathy 07/2013
1	Contracture 02/2013
1	Myofibrillar Myopathy 06/2011
1	Pathological Protein Aggregation 06/2011
1	Distal Myopathies (Distal Muscular Dystrophy) 06/2011
1	Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy) 09/2010
1	Cardiomegaly (Heart Hypertrophy) 04/2010
1	Hypertrophy 04/2010
1	Ophthalmoplegia (External Ophthalmoplegia) 12/2008

Drug/Important Bio-Agent (IBA)

8	Proteins (Proteins, Gene)FDA Link 01/2022 - 04/2010
2	Creatine Kinase (Creatine Phosphokinase)IBA 11/2022 - 10/2020
2	nebulinIBA 01/2020 - 06/2017
2	DNA (Deoxyribonucleic Acid)IBA 01/2018 - 11/2015
2	Ryanodine Receptor Calcium Release Channel (Ryanodine Receptor)IBA 01/2017 - 11/2015
2	Myosins (Myosin)IBA 11/2015 - 01/2012
2	CalciumIBA 02/2013 - 04/2010
2	Actins (F Actin)IBA 09/2010 - 12/2008
1	Neuregulin-1 (Neuregulin 1)IBA 01/2022
1	LaminsIBA 01/2022
1	Myosin Heavy Chains (Myosin Heavy Chain)IBA 01/2022
1	Nonsense Codon (Nonsense Mutation)IBA 01/2020
1	EnzymesIBA 01/2020
1	GlycogenIBA 01/2020
1	Glycogen Phosphorylase (Phosphorylase, Glycogen)IBA 01/2020
1	Nuclear Pore Complex Proteins (Nucleoporins)IBA 12/2018
1	Cofilin 2IBA 09/2014
1	LipidsIBA 08/2014
1	Phosphoric Monoester Hydrolases (Phosphatases)IBA 08/2014
1	myotubularinIBA 08/2014
1	Protein Isoforms (Isoforms)IBA 11/2013
1	Troponin IIBA 07/2013
1	TropomyosinIBA 02/2013
1	1,4-alpha-Glucan Branching Enzyme (Glycogen Branching Enzyme)IBA 02/2013
1	FilaminsIBA 06/2011
1	Mitochondrial Proteins (Mitochondrial Protein)IBA 04/2010

Therapy/Procedure

4	Therapeutics 01/2020 - 11/2013
1	Continuous Positive Airway Pressure 11/2022
1	Noninvasive Ventilation 01/2019