Thomas O Crawford Selected Research

Nemaline myopathy 5

4/2005	Cellular fate of truncated slow skeletal muscle troponin T produced by Glu180 nonsense mutation in amish nemaline myopathy.
7/2003	Truncation by Glu180 nonsense mutation results in complete loss of slow skeletal muscle troponin T in a lethal nemaline myopathy.

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Thomas O Crawford Research Topics

Disease

19	Spinal Muscular Atrophy (Progressive Muscular Atrophy) 01/2021 - 08/2007
11	Ataxia Telangiectasia (Louis Bar Syndrome) 10/2021 - 04/2010
3	Neurodegenerative Diseases (Neurodegenerative Disease) 04/2015 - 01/2011
2	Muscular Dystrophies (Muscular Dystrophy) 01/2022 - 07/2002
2	Neuromuscular Diseases (Neuromuscular Disease) 01/2021 - 01/2013
2	Mitochondrial Diseases (Mitochondrial Disease) 10/2016 - 01/2003
2	Neoplasms (Cancer) 01/2011 - 04/2004
2	Weight Gain 08/2010 - 01/2009
2	Nemaline Myopathies (Nemaline Myopathy) 04/2005 - 07/2003
2	Nemaline myopathy 5 04/2005 - 07/2003
2	Respiratory Insufficiency (Respiratory Failure) 07/2002 - 06/2002
1	Channelopathies 01/2022
1	Sarcoglycanopathies 01/2022
1	Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker) 01/2022
1	Adult Form Polyglucosan Body Disease 11/2021
1	Optic Nerve Diseases (Optic Neuropathy) 11/2021
1	Cerebrotendinous Xanthomatosis 11/2021
1	Congenital Myasthenic Syndromes (Myasthenia Gravis, Congenital) 11/2021
1	Ataxia (Dyssynergia) 01/2021
1	Agammaglobulinemia (Hypogammaglobulinemia) 01/2021
1	Breast Neoplasms (Breast Cancer) 01/2021
1	Fever (Fevers) 01/2021
1	Hydrocephalus (Hydrocephaly) 01/2021
1	Neurologic Manifestations (Neurological Manifestations) 01/2021
1	Telangiectasis (Telangiectasia) 01/2021
1	Chromosome Breakage 01/2021
1	Rare Diseases (Rare Disease) 01/2021
1	Precursor Cell Lymphoblastic Leukemia-Lymphoma (Acute Lymphoblastic Leukemia) 01/2021
1	Muscular Atrophy (Muscle Atrophy) 11/2019
1	Motor Neuron Disease (Primary Lateral Sclerosis) 01/2018
1	Spinal Muscular Atrophies of Childhood (Werdnig Hoffman Disease) 01/2018
1	Lymphopenia (Lymphocytopenia) 11/2016
1	IgA Deficiency 11/2016
1	Critical Illness (Critically Ill) 10/2016
1	Paraplegia (Spastic Paraplegia) 10/2016
1	Muscular Diseases (Myopathy) 01/2015
1	Incontinentia Pigmenti (Bloch Sulzberger Syndrome) 01/2015
1	Bethlem myopathy 01/2015
1	Scleroatonic muscular dystrophy 01/2015
1	Blister (Bulla) 01/2015
1	Brain Diseases (Brain Disorder) 01/2015
1	Seizures (Absence Seizure) 01/2015
1	Strabismus (Squint) 02/2013
1	congenital fibrosis of the extraocular muscles 02/2013
1	Kallmann Syndrome (Kallmann's Syndrome) 02/2013
1	Hypothermia 03/2012
1	Scoliosis 07/2011
1	Cicatrix (Scar) 03/2011
1	Disease Progression 01/2011
1	Catatonia 12/2010
1	Inflammation (Inflammations) 04/2010
1	Precursor T-Cell Lymphoblastic Leukemia-Lymphoma (T-ALL) 08/2007

Drug/Important Bio-Agent (IBA)

11	Proteins (Proteins, Gene)FDA Link 01/2022 - 01/2011
5	Valproic Acid (Depakote)FDA LinkGeneric 01/2018 - 01/2009
4	Biomarkers (Surrogate Marker)IBA 05/2019 - 01/2011
4	Carnitine (L-Carnitine)FDA LinkGeneric 01/2018 - 01/2009
3	DNA (Deoxyribonucleic Acid)IBA 01/2022 - 09/2010
2	RNA Precursors (Precursor, mRNA)IBA 01/2021 - 12/2020
2	alpha-Fetoproteins (alpha-Fetoprotein)IBA 01/2021 - 11/2016
2	nusinersenIBA 01/2021 - 11/2019
2	KinesinsIBA 10/2016 - 02/2013
2	Nonsense Codon (Nonsense Mutation)IBA 04/2005 - 07/2003
2	Codon (Codons)IBA 04/2005 - 07/2003
2	Troponin T (Troponin T1)IBA 04/2005 - 07/2003
2	Trinitrotoluene (TNT)IBA 04/2005 - 07/2003
1	CalciumIBA 01/2022
1	Sarcoglycans (beta Sarcoglycan)IBA 01/2022
1	SteroidsIBA 11/2021
1	A-Form DNA (A-DNA)IBA 10/2021
1	ZolgensmaIBA 01/2021
1	Transaminases (Aminotransferases)IBA 01/2021
1	gamma-Globulins (gamma-Globulin)IBA 01/2021
1	Ataxia Telangiectasia Mutated ProteinsIBA 01/2021
1	Immunoglobulins (Immunoglobulin)IBA 11/2016
1	diacereinIBA 10/2016
1	Cyclin-Dependent Kinase 5IBA 04/2015
1	Microtubule-Associated Proteins (Microtubule-Associated Protein 2)IBA 04/2015
1	CollagenIBA 01/2015
1	GlucocorticoidsIBA 01/2015
1	Dexamethasone (Maxidex)FDA LinkGeneric 01/2015
1	Glucose (Dextrose)FDA LinkGeneric 06/2014
1	4-Aminopyridine (4 Aminopyridine)FDA Link 11/2013
1	TubulinIBA 02/2013
1	Blood Proteins (Serum Proteins)IBA 01/2013
1	Anesthetics (Anesthetic Agents)IBA 03/2012
1	GadoliniumIBA 03/2011
1	Biological ProductsIBA 01/2011
1	Lorazepam (Ativan)FDA LinkGeneric 12/2010
1	Pharmaceutical PreparationsIBA 08/2010
1	InterleukinsIBA 04/2010
1	Interleukin-8 (Interleukin 8)IBA 04/2010
1	1,2- di- (4- sulfamidophenyl)- 4- butylpyrazolidine- 3,5- dione (DSB)IBA 08/2007
1	Peptides (Polypeptides)IBA 04/2005

Therapy/Procedure

7	Therapeutics 01/2021 - 01/2012
1	Perioperative Care 03/2012
1	Critical Care (Surgical Intensive Care) 03/2012
1	Length of Stay 07/2011
1	Gastrostomy 05/2011
1	Duration of Therapy 08/2010
1	Palliative Care (Palliative Therapy) 08/2007