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Cyril Goizet Selected Research

Intestinal Pseudo-Obstruction (Intestinal Pseudoobstruction)

1/2017Gain-of-Function Mutation in Filamin A Potentiates Platelet Integrin αIIbβ3 Activation.

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Cyril Goizet Research Topics

Disease

7Hereditary Spastic Paraplegia
06/2020 - 08/2007
6Cerebellar Ataxia (Dysmetria)
01/2022 - 12/2010
5Spinocerebellar Ataxias (Spinocerebellar Ataxia)
01/2023 - 04/2012
4Disease Progression
01/2023 - 01/2014
4Huntington Disease (Huntington's Disease)
01/2017 - 10/2013
3Ataxia (Dyssynergia)
01/2023 - 08/2009
3Intellectual Disability (Idiocy)
01/2020 - 04/2009
3Periventricular Nodular Heterotopia
01/2017 - 01/2011
2Atrophy
01/2024 - 08/2009
2Dystonia (Limb Dystonia)
11/2023 - 01/2018
2Optic Atrophy
11/2023 - 01/2015
2Neurodevelopmental Disorders
10/2023 - 01/2020
2Anodontia (Hypodontia)
10/2023 - 07/2015
2Hypogonadism (Hypergonadotropic Hypogonadism)
10/2023 - 07/2015
2Cognitive Dysfunction
01/2023 - 01/2016
2Nervous System Diseases (Neurological Disorders)
02/2022 - 01/2017
2Autosomal Dominant Optic Atrophy (Dominant Optic Atrophy)
06/2020 - 06/2008
2Type C Niemann-Pick Disease (Niemann Pick Disease, Type C)
10/2018 - 01/2016
2Fabry Disease (Fabry's Disease)
05/2018 - 07/2007
2Muscular Dystrophies (Muscular Dystrophy)
01/2018 - 10/2005
2Channelopathies
06/2017 - 04/2010
2Thrombosis (Thrombus)
01/2017 - 01/2013
2Chorea (Rheumatic Chorea)
10/2012 - 06/2009
2Leukoencephalopathies
01/2012 - 08/2009
2Peripheral Nervous System Diseases (PNS Diseases)
10/2011 - 10/2005
1Cytochrome-c Oxidase Deficiency
01/2024
1Mitochondrial Diseases (Mitochondrial Disease)
01/2024
1Parkinsonian Disorders (Parkinsonism)
11/2023
1Hypertension (High Blood Pressure)
01/2023
1Rare Diseases (Rare Disease)
07/2022
1Inborn Genetic Diseases (Disease, Hereditary)
01/2022
1Seizures (Absence Seizure)
01/2022
1Fever (Fevers)
01/2022
1Mental Disorders (Mental Disorder)
11/2020
1Spinocerebellar ataxia 28
06/2020
1GM2 Gangliosidoses (GM2 Gangliosidosis)
01/2020
1Tay-Sachs Disease
01/2020
1Sandhoff Disease (Sandhoff's Disease)
01/2020
1Neurodegeneration with brain iron accumulation (NBIA)
01/2020
1Type 2K Charcot-Marie-Tooth disease
01/2020
1Granulomatosis with Polyangiitis (Wegener's Granulomatosis)
10/2018
1Vasculitis (Vasculitides)
10/2018
1Schwannomatosis
01/2018
1recessive Spastic paraplegia type 5A
01/2018
1autosomal recessive 1 Spinocerebellar ataxia
01/2018
1Apraxias (Dyspraxia)
01/2018
1Chromosome Aberrations (Chromosome Abnormalities)
01/2018
1Muscular Diseases (Myopathy)
01/2018
1Neoplasms (Cancer)
01/2018
1Paraplegia (Spastic Paraplegia)
01/2018
1Sialorrhea
01/2018
1Spinocerebellar Degenerations (Marinesco Sjogren Syndrome)
01/2018
1Hypoalbuminemia
01/2018
1Rheumatoid Arthritis
01/2017

Drug/Important Bio-Agent (IBA)

7Biomarkers (Surrogate Marker)IBA
10/2023 - 08/2015
4IronIBA
01/2024 - 08/2009
4FilaminsIBA
01/2017 - 01/2011
3Mitochondrial DNA (mtDNA)IBA
01/2024 - 06/2008
3DNA (Deoxyribonucleic Acid)IBA
01/2018 - 04/2009
3polyglutamineIBA
06/2017 - 04/2012
2RNA Polymerase IIIIBA
10/2023 - 07/2015
2AlbuminsIBA
01/2023 - 09/2014
2tributyl phosphate (TBP)IBA
01/2023 - 06/2017
2m-AAA proteasesIBA
06/2020 - 01/2015
2LipidsIBA
10/2018 - 01/2016
2alpha-Galactosidase (Beano)IBA
05/2018 - 07/2007
2EnzymesIBA
05/2018 - 12/2012
2CholesterolIBA
01/2018 - 01/2016
2OxysterolsIBA
01/2018 - 09/2014
2CollagenIBA
01/2017 - 01/2013
1Calcium Carbonate (Limestone)FDA Link
07/2022
1RiluzoleFDA LinkGeneric
01/2022
1ResveratrolIBA
01/2020
1Fragile X Mental Retardation ProteinIBA
01/2020
1ChromatinIBA
01/2020
1Glutathione Transferase (Glutathione S-Transferase)IBA
01/2020
1Hexosaminidases (Hexosaminidase)IBA
01/2020
1miglustat (Zavesca)FDA Link
10/2018
1Cathepsin CIBA
10/2018
1AntigensIBA
10/2018
1Myeloblastin (Proteinase 3)IBA
10/2018
1Antineutrophil Cytoplasmic Antibodies (ANCA)IBA
10/2018
1migalastatIBA
05/2018
1Bile Acids and Salts (Bile Acids)IBA
01/2018
1nebulinIBA
01/2018
1Cytochrome P-450 Enzyme System (Cytochrome P450)IBA
01/2018
1ElementsIBA
01/2018
1Fetal Proteins (Fetoprotein)IBA
01/2018
1Pyridinolcarbamate (P23)IBA
01/2018
1Serum AlbuminIBA
01/2018
1ConnectinIBA
01/2018
1Codon (Codons)IBA
01/2017
1Adenosine Diphosphate (ADP)IBA
01/2017
1Proteins (Proteins, Gene)FDA Link
01/2017
1von Willebrand FactorIBA
01/2017
1AcidsIBA
01/2017

Therapy/Procedure

3Enzyme Replacement Therapy
05/2018 - 10/2015
2Therapeutics
05/2018 - 07/2007
1Toothbrushing
01/2022
1Gastrostomy
01/2018