Hanns Lochmüller Selected Research

Muscle Weakness

1/2022	Distinct and Recognisable Muscle MRI Pattern in a Series of Adults Harbouring an Identical GMPPB Gene Mutation.
1/2021	Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa.
1/2020	Long Term Follow-Up on Pediatric Cases With Congenital Myasthenic Syndromes-A Retrospective Single Centre Cohort Study.
1/2020	Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles.
5/2019	Congenital myasthenic syndrome caused by novel COL13A1 mutations.
1/2018	Limb girdle muscular dystrophy 2G in a religious minority of Bulgarian Muslims homozygous for the c.75G>A, p.Trp25X mutation.
1/2016	Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome.
1/2016	A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy.
9/2014	Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy.
11/2013	Dystrophin-deficient pigs provide new insights into the hierarchy of physiological derangements of dystrophic muscle.

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Hanns Lochmüller Research Topics

Disease

30	Muscular Diseases (Myopathy) 01/2022 - 04/2003
28	Muscular Dystrophies (Muscular Dystrophy) 01/2022 - 07/2003
28	Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker) 01/2020 - 05/2003
23	Congenital Myasthenic Syndromes (Myasthenia Gravis, Congenital) 03/2021 - 05/2002
13	Disease Progression 11/2022 - 11/2011
13	Muscle Weakness 01/2022 - 09/2006
12	Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy) 01/2022 - 05/2005
12	Myotonic Dystrophy (Dystrophia Myotonica) 01/2022 - 12/2002
11	Rare Diseases (Rare Disease) 01/2018 - 09/2009
8	Distal Myopathies (Distal Muscular Dystrophy) 01/2018 - 12/2003
7	Mitochondrial Diseases (Mitochondrial Disease) 10/2021 - 02/2011
6	Neuromuscular Diseases (Neuromuscular Disease) 01/2020 - 11/2013
6	Inborn Genetic Diseases (Disease, Hereditary) 03/2019 - 01/2008
5	Spinal Muscular Atrophy (Progressive Muscular Atrophy) 01/2022 - 11/2011
5	Ataxia (Dyssynergia) 01/2018 - 01/2007
5	Cardiomyopathies (Cardiomyopathy) 01/2018 - 11/2010
5	Myofibrillar Myopathy 03/2014 - 08/2005
4	Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy) 11/2022 - 12/2007
4	Dystonia (Limb Dystonia) 01/2022 - 05/2012
4	Limb-girdle muscular dystrophy type 2A 01/2022 - 02/2007
4	Neoplasms (Cancer) 01/2018 - 08/2003
4	Cataract (Cataracts) 05/2017 - 10/2003
4	Myositis (Idiopathic Inflammatory Myopathies) 01/2017 - 05/2003
4	Cerebellar Ataxia (Dysmetria) 12/2016 - 12/2005
4	Respiratory Insufficiency (Respiratory Failure) 11/2016 - 11/2004
4	Bethlem myopathy 04/2016 - 04/2014
4	Infections 07/2010 - 10/2002
3	Atrophy 10/2021 - 02/2004
3	Spinocerebellar Degenerations (Marinesco Sjogren Syndrome) 01/2021 - 12/2005
3	Walker-Warburg Syndrome 01/2020 - 11/2007
3	Type 2I Limb-Girdle Muscular Dystrophy 01/2020 - 05/2005
3	Epilepsy (Aura) 01/2018 - 12/2012
3	Mitochondrial Myopathies (Mitochondrial Myopathy) 01/2018 - 08/2007
3	Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy) 01/2018 - 07/2006
3	Inclusion Body Myositis 01/2017 - 09/2011
3	type 2B Limb-girdle muscular dystrophy 09/2015 - 12/2003
3	Miyoshi myopathy 09/2010 - 12/2003
3	Rhabdomyosarcoma 11/2008 - 10/2003
2	Type 2D Charcot-Marie-Tooth disease 11/2022 - 12/2007
2	Brain Diseases (Brain Disorder) 01/2022 - 01/2020
2	Contracture 01/2021 - 05/2014
2	Muscle Hypotonia (Hypotonia) 01/2021 - 03/2007
2	Carcinogenesis 01/2021 - 01/2018
2	Inflammation (Inflammations) 01/2021 - 01/2020
2	Cognitive Dysfunction 01/2020 - 03/2017
2	Lactic Acidosis 01/2020 - 03/2007
2	Channelopathies 03/2019 - 02/2010
2	Muscular Atrophy (Muscle Atrophy) 01/2019 - 01/2011
2	Tremor (Tremors) 01/2018 - 12/2016
2	Cachexia 03/2017 - 05/2009

Drug/Important Bio-Agent (IBA)

57	Proteins (Proteins, Gene)FDA Link 11/2022 - 03/2003
21	Biomarkers (Surrogate Marker)IBA 11/2022 - 04/2014
18	DystrophinIBA 01/2020 - 05/2003
10	Creatine Kinase (Creatine Phosphokinase)IBA 01/2022 - 06/2009
10	Mitochondrial DNA (mtDNA)IBA 12/2020 - 08/2004
9	EnzymesIBA 01/2021 - 03/2007
8	Cholinergic ReceptorsIBA 01/2020 - 05/2002
7	DysferlinIBA 05/2013 - 04/2003
6	CollagenIBA 01/2022 - 05/2014
6	Pharmaceutical PreparationsIBA 01/2020 - 08/2002
6	CalciumIBA 01/2020 - 02/2007
5	Phosphotransferases (Kinase)IBA 01/2021 - 03/2014
5	ConnectinIBA 01/2020 - 03/2014
5	Messenger RNA (mRNA)IBA 01/2019 - 05/2003
5	Myosins (Myosin)IBA 01/2019 - 04/2007
5	Dystroglycans (Dystroglycan)IBA 01/2018 - 03/2007
4	MicroRNAs (MicroRNA)IBA 01/2022 - 06/2015
4	RNA (Ribonucleic Acid)IBA 01/2022 - 01/2011
4	Nonsense Codon (Nonsense Mutation)IBA 01/2022 - 08/2005
4	Cholinesterase Inhibitors (Anticholinesterases)IBA 05/2019 - 11/2004
4	N-Acetylneuraminic Acid (Sialic Acid)IBA 01/2019 - 09/2015
3	LipidsIBA 10/2021 - 08/2007
3	Adrenal Cortex Hormones (Corticosteroids)IBA 01/2020 - 01/2017
3	Albuterol (Salbutamol)FDA LinkGeneric 01/2019 - 08/2013
3	Electron Transport Complex IV (Cytochrome c Oxidase)IBA 01/2018 - 07/2009
3	Biocompatible Materials (Biomaterials)IBA 01/2018 - 09/2009
3	CytokinesIBA 01/2017 - 10/2003
3	Synaptotagmin IIIBA 01/2017 - 09/2014
3	CalpainIBA 01/2016 - 01/2005
3	Uridine Diphosphate (UDP)IBA 09/2015 - 12/2003
3	Racemases and Epimerases (Epimerases and Racemases)IBA 09/2015 - 12/2003
3	AcetylglucosamineIBA 09/2015 - 12/2003
3	AnoctaminsIBA 11/2014 - 01/2011
3	coenzyme Q10 (CoQ10)IBA 11/2014 - 08/2007
3	Chloride Channels (Chloride Channel)IBA 11/2014 - 12/2010
3	AntibodiesIBA 07/2014 - 08/2006
3	SteroidsIBA 02/2013 - 03/2007
3	Sarcoglycans (beta Sarcoglycan)IBA 01/2011 - 05/2010
3	Caveolin 3IBA 07/2006 - 04/2003
2	Biological ProductsIBA 01/2022 - 12/2018
2	Leucine (L-Leucine)FDA Link 01/2022 - 03/2008
2	Amino Acids FDA Link 12/2020 - 01/2020
2	Malate Dehydrogenase (Dehydrogenase, Malate)IBA 01/2020 - 07/2014
2	deflazacortIBA 01/2020 - 02/2013
2	Phosphoric Monoester Hydrolases (Phosphatases)IBA 01/2018 - 10/2003
2	Carrier Proteins (Binding Protein)IBA 01/2018 - 12/2003

Therapy/Procedure

25	Therapeutics 01/2021 - 01/2007
3	Activities of Daily Living (ADL) 11/2020 - 01/2017
2	Denervation 11/2022 - 02/2004
2	Noninvasive Ventilation 05/2017 - 11/2016