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B Udd Selected Research

Distal Myopathies (Distal Muscular Dystrophy)

10/2016Myofibrillar and distal myopathies.
10/2015Myofibrillar myopathies: State of the art, present and future challenges.
5/2012Spanish MYH7 founder mutation of Italian ancestry causing a large cluster of Laing myopathy patients.
3/2012Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5.
6/2007Zaspopathy in a large classic late-onset distal myopathy family.
2/2006Laing early onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy.
2/2005Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J.
4/2001Secondary calpain3 deficiency in 2q-linked muscular dystrophy: titin is the candidate gene.

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B Udd Research Topics

Disease

8Distal Myopathies (Distal Muscular Dystrophy)
10/2016 - 04/2001
7Muscular Diseases (Myopathy)
01/2016 - 10/2004
4Myotonic Dystrophy (Dystrophia Myotonica)
06/2013 - 04/2004
4Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy)
03/2012 - 02/2005
3Muscular Dystrophies (Muscular Dystrophy)
01/2018 - 04/2001
3Myofibrillar Myopathy
10/2016 - 06/2007
2Cardiomyopathies (Cardiomyopathy)
10/2015 - 10/2004
2Frontotemporal Lobar Degeneration (Degeneration, Frontotemporal Lobar)
11/2010 - 01/2009
1Myotilinopathy
10/2016
1Hereditary Myopathy with Early Respiratory Failure
10/2015
1Incontinentia Pigmenti (Bloch Sulzberger Syndrome)
02/2010
1Demyelinating Diseases (Demyelinating Disease)
09/2008
1Drug Resistant Epilepsy
09/2008
1Dermatomyositis (Dermatopolymyositis)
09/2008
1Myasthenia Gravis
09/2008
1Stiff-Person Syndrome (Stiff Man Syndrome)
09/2008
1Polymyositis
09/2008
1Guillain-Barre Syndrome
09/2008
1Chronic Inflammatory Demyelinating Polyradiculoneuropathy (CIDP)
09/2008
1Paraneoplastic Polyneuropathy
09/2008
1Mononeuropathies (Mononeuritis Multiplex)
09/2008
1Relapsing-Remitting Multiple Sclerosis
09/2008
1Ataxia Neuropathy Spectrum
12/2007
1Type 2J Limb-Girdle Muscular Dystrophy
02/2005
1Sarcoglycanopathies
02/2005
1Chronic Progressive External Ophthalmoplegia (Progressive External Ophthalmoplegia)
10/2004
1Mitochondrial Diseases (Mitochondrial Disease)
10/2004
1Weight Loss (Weight Reduction)
10/2004
1Sudden Infant Death (SID)
08/2002
1Myositis (Idiopathic Inflammatory Myopathies)
04/2001
1Limb-girdle muscular dystrophy type 2A
04/2001
1Apnea
02/2001
1X-Linked Bulbo-Spinal Atrophy
08/2000

Drug/Important Bio-Agent (IBA)

5Proteins (Proteins, Gene)FDA Link
01/2018 - 06/2013
5ConnectinIBA
10/2015 - 04/2001
4DNA (Deoxyribonucleic Acid)IBA
03/2012 - 08/2002
2DesminIBA
10/2015 - 06/2007
2ProgranulinsIBA
11/2010 - 01/2009
2Myosins (Myosin)IBA
06/2007 - 02/2006
2Choline O-Acetyltransferase (Choline Acetyltransferase)IBA
08/2002 - 02/2001
1alpha-Crystallin B ChainIBA
10/2016
1Ventricular MyosinsIBA
05/2012
1Creatine Kinase (Creatine Phosphokinase)IBA
03/2012
1Microtubule-Associated Proteins (Microtubule-Associated Protein 2)IBA
11/2010
1NF-kappa B (NF-kB)IBA
02/2010
1Chloride Channels (Chloride Channel)IBA
11/2008
1Prednisone (Sone)FDA LinkGeneric
09/2008
1Intravenous Immunoglobulins (IVIG)FDA Link
09/2008
1Glucose (Dextrose)FDA LinkGeneric
12/2007
1FilaminsIBA
06/2007
1DysferlinIBA
06/2007
1Crystallins (Crystallin)IBA
06/2007
1Myosin Heavy Chains (Myosin Heavy Chain)IBA
02/2006
1N-formyl-13-dihydrocarminomycin (NFD)IBA
11/2005
1Sarcoglycans (beta Sarcoglycan)IBA
02/2005
1Valproic Acid (Depakote)FDA LinkGeneric
10/2004
1Mitochondrial DNA (mtDNA)IBA
10/2004
13' Untranslated Regions (3' UTR)IBA
04/2004
1Androgen Receptors (Androgen Receptor)IBA
08/2000

Therapy/Procedure

1Therapeutics
09/2008
1Immunomodulation
09/2008