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F Muntoni Selected Research

Walker-Warburg Syndrome

1/2021Characteristic Cochlear Hypoplasia in Patients with Walker-Warburg Syndrome: A Radiologic Study of the Inner Ear in α-Dystroglycan-Related Muscular Disorders.
2/2009Reduced expression of fukutin related protein in mice results in a model for fukutin related protein associated muscular dystrophies.
12/2007Muscular dystrophies due to defective glycosylation of dystroglycan.
12/2005POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome.
4/2003Occipito-temporal polymicrogyria and subclinical muscular dystrophy.
12/2001Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan.
12/2000Congenital muscular dystrophy associated with calf hypertrophy, microcephaly and severe mental retardation in three Italian families: evidence for a novel CMD syndrome.
8/2000Congenital muscular dystrophy with secondary merosin deficiency and normal brain MRI: a novel entity?

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F Muntoni Research Topics

Disease

19Muscular Dystrophies (Muscular Dystrophy)
08/2012 - 01/2000
16Muscular Diseases (Myopathy)
12/2017 - 01/2000
13Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker)
12/2017 - 02/2000
8Walker-Warburg Syndrome
01/2021 - 08/2000
6Central Core Myopathy (Central Core Disease)
12/2012 - 12/2001
6Scleroatonic muscular dystrophy
02/2012 - 02/2005
6Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy)
02/2009 - 04/2001
5Bethlem myopathy
02/2012 - 02/2005
5Intellectual Disability (Idiocy)
05/2002 - 02/2000
4Cardiomyopathies (Cardiomyopathy)
07/2015 - 11/2000
4Malignant Hyperthermia
08/2014 - 12/2001
4Scoliosis
12/2010 - 05/2002
3Spinal Muscular Atrophy (Progressive Muscular Atrophy)
01/2021 - 08/2002
3Rhabdomyolysis
08/2014 - 01/2005
3Minicore Myopathy with External Ophthalmoplegia
12/2012 - 10/2004
3Congenital Structural Myopathies (Centronuclear Myopathy)
05/2012 - 01/2003
3Nemaline Myopathies (Nemaline Myopathy)
02/2003 - 01/2001
3Autosomal Emery-Dreifuss Muscular Dystrophy
02/2002 - 08/2000
3Hypertrophy
12/2001 - 08/2001
2Neuromuscular Diseases (Neuromuscular Disease)
07/2013 - 06/2010
2Congenital Abnormalities (Deformity)
05/2007 - 10/2004
2Contracture
05/2007 - 05/2002
2Muscle Weakness
08/2006 - 10/2004
2Emery-Dreifuss Muscular Dystrophy (Scapuloperoneal Muscular Dystrophy)
05/2005 - 02/2002
2Dmd-Associated Dilated Cardiomyopathy
08/2004 - 11/2001
2Dilated Cardiomyopathy (Cardiomyopathy, Congestive)
01/2004 - 02/2000
2Type 2I Limb-Girdle Muscular Dystrophy
04/2003 - 03/2003
1Eye Abnormalities (Eye Abnormality)
01/2021
1Hypokinesia (Bradykinesia)
07/2015
1King Denborough syndrome
08/2014
1Myalgia
07/2013
1Ulcer
08/2012
1Hereditary Sensory and Autonomic Neuropathies (HSAN)
08/2012
1merosin negative Muscular dystrophy congenital
06/2012
1Cytochrome-c Oxidase Deficiency
10/2011
1Disease Progression
06/2011
1Congenital Myasthenic Syndromes (Myasthenia Gravis, Congenital)
12/2010
1Respiratory Insufficiency (Respiratory Failure)
12/2010
1Muscle Hypotonia (Hypotonia)
12/2010
1Protein Deficiency
06/2010
1Mitochondrial Diseases (Mitochondrial Disease)
01/2009
1Ophthalmoplegia (External Ophthalmoplegia)
12/2005
1type 1B Limb-girdle muscular dystrophy
05/2005
1Trifunctional Protein Deficiency With Myopathy And Neuropathy
01/2005
1Polyneuropathies (Polyneuropathy)
10/2004
1Episodic Ataxia
10/2004
1Short chain Acyl CoA dehydrogenase deficiency
10/2004
1Isaacs Syndrome (Neuromyotonia)
10/2004
1Channelopathies
10/2004

Drug/Important Bio-Agent (IBA)

16Proteins (Proteins, Gene)FDA Link
06/2010 - 01/2000
10Ryanodine Receptor Calcium Release Channel (Ryanodine Receptor)IBA
08/2014 - 12/2001
10Laminin (Merosin)IBA
04/2003 - 01/2000
9DystrophinIBA
12/2017 - 02/2000
8Dystroglycans (Dystroglycan)IBA
01/2021 - 12/2001
7CollagenIBA
06/2012 - 05/2002
4Creatine Kinase (Creatine Phosphokinase)IBA
08/2006 - 01/2000
4Lamin Type A (Lamin A)IBA
02/2002 - 02/2000
3Selenoproteins (Selenoprotein)IBA
12/2012 - 12/2005
3CalciumIBA
11/2010 - 12/2001
3EnzymesIBA
10/2004 - 08/2001
2myotubularinIBA
05/2012 - 01/2003
2TropomyosinIBA
12/2010 - 01/2001
2Adrenal Cortex Hormones (Corticosteroids)IBA
11/2008 - 09/2004
2GlucocorticoidsIBA
11/2008 - 05/2007
2Prednisolone (Predate)FDA LinkGeneric
05/2007 - 01/2002
2Albuterol (Salbutamol)FDA LinkGeneric
10/2004 - 08/2002
2AntibodiesIBA
10/2004 - 01/2001
2DNA (Deoxyribonucleic Acid)IBA
08/2003 - 02/2003
2Nonsense Codon (Nonsense Mutation)IBA
09/2001 - 09/2001
2nebulinIBA
03/2001 - 01/2001
1nusinersenIBA
01/2021
1GadoliniumIBA
07/2015
1SteroidsIBA
08/2013
1MorpholinosIBA
05/2013
1Dyneins (Dynein)IBA
05/2012
1Cytoplasmic DyneinsIBA
05/2012
1Glu Transfer RNAIBA
10/2011
1Antisense OligonucleotidesIBA
05/2010
1Mitochondrial Permeability Transition PoreIBA
01/2009
1Cyclosporine (Ciclosporin)FDA LinkGeneric
01/2009
1protein O-mannose beta-1,2-N-acetylglucosaminyltransferaseIBA
12/2007
1dimemorfan (AT 17)IBA
05/2007
1Polypeptide N-acetylgalactosaminyltransferaseIBA
12/2005
1AntigensIBA
12/2005
1Extracellular Matrix ProteinsIBA
06/2005
1Collagen Type VIIBA
06/2005
1LaminsIBA
05/2005
1Mitochondrial Trifunctional ProteinIBA
01/2005
13-Hydroxyacyl-CoA DehydrogenaseIBA
01/2005
1Nitric Oxide Synthase Type I (Neuronal Nitric Oxide Synthase)IBA
10/2004
1Volatile Fatty AcidsIBA
10/2004
1PotassiumIBA
10/2004
1AcidsIBA
10/2004
1Potassium Channels (Potassium Channel)IBA
10/2004
1Butyryl-CoA Dehydrogenase (Short-Chain Acyl-CoA Dehydrogenase)IBA
10/2004
1acylcarnitineIBA
10/2004

Therapy/Procedure

2Noninvasive Ventilation
12/2010 - 10/2006
2Therapeutics
05/2010 - 01/2002
1Surgical Amputation (Amputations)
08/2012
1Foot Orthoses
05/2007