Guilhem Sole Selected Research

Scleroatonic muscular dystrophy

1/2021

Clinical and Molecular Spectrum Associated with COL6A3 c.7447A>G p.(Lys2483Glu) Variant: Elucidating its Role in Collagen VI-related Myopathies.

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Guilhem Sole Research Topics

Disease

3	Muscular Diseases (Myopathy) 01/2021 - 01/2018
2	Infections 05/2024 - 09/2023
2	Deglutition Disorders (Dysphagia) 01/2023 - 11/2021
2	Weight Loss (Weight Reduction) 01/2023 - 11/2021
2	Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy) 01/2022 - 01/2021
1	Hemolysis 09/2023
1	Muscular Atrophy (Muscle Atrophy) 01/2023
1	Esophageal Achalasia (Megaesophagus) 11/2021
1	Melanoma (Melanoma, Malignant) 11/2021
1	Neoplasms (Cancer) 11/2021
1	Neurologic Manifestations (Neurological Manifestations) 11/2021
1	Uveitis 11/2021
1	Vitiligo 11/2021
1	Hearing Loss (Hearing Impairment) 01/2021
1	Bethlem myopathy 01/2021
1	Chronic Inflammatory Demyelinating Polyradiculoneuropathy (CIDP) 01/2021
1	Scleroatonic muscular dystrophy 01/2021
1	Laminopathies 01/2019
1	Ventricular Tachycardia 01/2019
1	Cardiac Sudden Death (Sudden Cardiac Arrest) 01/2019
1	Muscular Dystrophies (Muscular Dystrophy) 01/2018
1	Glycogen Storage Disease Type II (Pompe's Disease) 01/2017
1	Respiratory Insufficiency (Respiratory Failure) 01/2017
1	Muscle Weakness 01/2017
1	Spastic Paraparesis 10/2012
1	Optic Nerve Diseases (Optic Neuropathy) 10/2012
1	Atrophy 10/2012
1	Polyneuropathies (Polyneuropathy) 06/2012
1	Familial Amyloidosis (Hereditary Amyloidosis) 06/2012

Drug/Important Bio-Agent (IBA)

3	Proteins (Proteins, Gene)FDA Link 05/2024 - 01/2021
1	AntibodiesIBA 05/2024
1	EnzymesIBA 09/2023
1	Intravenous Immunoglobulins (IVIG)FDA Link 01/2023
1	NivolumabIBA 11/2021
1	IpilimumabIBA 11/2021
1	Immune Checkpoint InhibitorsIBA 11/2021
1	Programmed Cell Death 1 ReceptorIBA 11/2021
1	Extracellular Matrix ProteinsIBA 01/2021
1	CollagenIBA 01/2021
1	sephin1IBA 01/2021
1	Carnitine O-Palmitoyltransferase (Carnitine Palmitoyltransferase II)IBA 01/2018
1	Fatty Acids (Saturated Fatty Acids)IBA 01/2018
1	Carnitine palmitoyl transferase 2 deficiencyIBA 01/2018
1	ConnectinIBA 01/2018
1	nebulinIBA 01/2018
1	Biomarkers (Surrogate Marker)IBA 10/2012
1	Prealbumin (Transthyretin)IBA 06/2012

Therapy/Procedure

1	Cesarean Section (Caesarean Section) 09/2023
1	Immunotherapy 11/2021
1	Therapeutics 11/2021
1	Implantable Defibrillators (Implantable Cardioverter-Defibrillator) 01/2019
1	Enzyme Replacement Therapy 01/2017
1	Ligation 10/2012