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Lev G Goldfarb Selected Research

Filamins

3/2013Impairment of protein degradation in myofibrillar myopathy caused by FLNC/filamin C mutations.
1/2013Filamin C-related myopathies: pathology and mechanisms.
9/2012Pathophysiology of protein aggregation and extended phenotyping in filaminopathy.
8/2012Novel FLNC mutation in a patient with myofibrillar myopathy in combination with late-onset cerebellar ataxia.
12/2010Dominant-negative effects of a novel mutation in the filamin myopathy.
10/2010DNA sequencing errors in molecular diagnostics of filamin myopathy.
5/2009In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy.

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Lev G Goldfarb Research Topics

Disease

14Muscular Diseases (Myopathy)
03/2014 - 03/2003
8Myofibrillar Myopathy
03/2013 - 07/2005
4Muscle Weakness
09/2012 - 02/2004
4Cardiomyopathies (Cardiomyopathy)
10/2010 - 03/2003
4Restrictive Cardiomyopathy
06/2009 - 04/2005
3Type 2D Charcot-Marie-Tooth disease
01/2010 - 05/2003
3Atrioventricular Block
06/2009 - 02/2004
2Hereditary Myopathy with Early Respiratory Failure
03/2014 - 03/2013
2Pathological Protein Aggregation
03/2013 - 06/2006
2Distal Myopathies (Distal Muscular Dystrophy)
01/2013 - 09/2012
2Communicable Diseases (Infectious Diseases)
01/2009 - 07/2002
2Respiratory Insufficiency (Respiratory Failure)
09/2006 - 06/2003
2Prion Diseases (Transmissible Spongiform Encephalopathies)
07/2006 - 09/2002
1Abnormal Reflex (Hyperreflexia)
10/2015
1Congenital Structural Myopathies (Centronuclear Myopathy)
10/2015
1autosomal dominant Spastic paraplegia 10
10/2015
1Disease Progression
03/2013
1Type 2 Diabetes Mellitus (MODY)
09/2012
1Kuru
02/2012
1Nemaline Myopathies (Nemaline Myopathy)
12/2010
1Paralysis (Palsy)
10/2010
1monomelic Amyotrophy
01/2010
1Spinal Muscular Atrophies of Childhood (Werdnig Hoffman Disease)
01/2010
1Syncope (Fainting)
06/2009
1Ventricular Tachycardia
06/2009
1Leukocytosis (Pleocytosis)
01/2009
1Dilated Cardiomyopathy (Cardiomyopathy, Congestive)
04/2007
1Myotilinopathy
07/2005
1Malignant Hyperthermia
03/2005
1Desmin-Related Myofibrillar Myopathy
02/2004
1Muscular Dystrophies (Muscular Dystrophy)
02/2004
1Alcoholism (Alcohol Abuse)
09/2003
1Flushing
09/2003
1Encephalomyelitis (Myeloencephalitis)
08/2003
1Motor Neuron Disease (Primary Lateral Sclerosis)
05/2003
1Type V Distal Hereditary Motor Neuronopathy
05/2003
1Inborn Genetic Diseases (Disease, Hereditary)
05/2003
1Heart Failure
03/2003
1Cardiac Arrhythmias (Arrythmia)
03/2003

Drug/Important Bio-Agent (IBA)

16DesminIBA
01/2013 - 03/2003
8Proteins (Proteins, Gene)FDA Link
03/2013 - 06/2006
7FilaminsIBA
03/2013 - 05/2009
3Prion ProteinsIBA
02/2012 - 09/2002
3Glycine-tRNA LigaseIBA
01/2010 - 05/2003
3Crystallins (Crystallin)IBA
07/2009 - 07/2005
2ConnectinIBA
03/2014 - 03/2013
2Protein AggregatesIBA
03/2013 - 01/2013
2DNA (Deoxyribonucleic Acid)IBA
10/2010 - 09/2003
1Dynamin IIIBA
10/2015
1GTP Phosphohydrolases (GTPases)IBA
10/2015
1Nonsense Codon (Nonsense Mutation)IBA
01/2013
1Potassium Channels (Potassium Channel)IBA
09/2012
1Immunoglobulins (Immunoglobulin)IBA
05/2009
1Gly Transfer RNAIBA
10/2006
1Ligases (Synthetase)IBA
10/2006
1Transfer RNA (tRNA)IBA
10/2006
1Amino AcidsFDA Link
10/2006
1Glycine (Aminoacetic Acid)FDA LinkGeneric
10/2006
1PrPSc ProteinsIBA
07/2006
1Peptide Hydrolases (Proteases)FDA Link
07/2006
1Anesthetics (Anesthetic Agents)IBA
03/2005
1Ryanodine Receptor Calcium Release Channel (Ryanodine Receptor)IBA
03/2005
1AcetaldehydeIBA
09/2003
1Oligoclonal BandsIBA
08/2003
1Proline (L-Proline)FDA Link
06/2003
1EnzymesIBA
05/2003
1Amino Acyl-tRNA Synthetases (Aminoacyl-tRNA Synthetase)IBA
05/2003
1PrionsIBA
07/2002

Therapy/Procedure

1Wheelchairs (Wheel Chair)
10/2015
1Defibrillators (Defibrillator)
06/2009
1Heart Transplantation (Grafting, Heart)
04/2005