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Gian Maria Fabrizi Selected Research

1 X-linked Charcot-Marie-Tooth disease

12/2020Aberrant Splicing in GJB1 and the Relevance of 5' UTR in CMTX1 Pathogenesis.

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Gian Maria Fabrizi Research Topics

Disease

11Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy)
11/2023 - 12/2006
5Transthyretin-Related Hereditary Amyloidosis
04/2024 - 02/2011
5Amyloidosis
04/2024 - 02/2011
3Polyneuropathies (Polyneuropathy)
04/2024 - 06/2004
2Fatigue
11/2023 - 01/2023
2COVID-19
05/2021 - 01/2020
2Chronic Inflammatory Demyelinating Polyradiculoneuropathy (CIDP)
03/2021 - 06/2011
2Peripheral Nervous System Diseases (PNS Diseases)
04/2020 - 01/2010
1Rare Diseases (Rare Disease)
04/2024
1Acquired Immunodeficiency Syndrome (AIDS)
11/2023
1Obesity
01/2023
1Sleepiness
01/2023
1Disease Progression
04/2022
1Motor Neuron Disease (Primary Lateral Sclerosis)
01/2022
1Vestibular Neuronitis (Vestibular Neuritis)
11/2021
1Cerebellar Ataxia (Dysmetria)
11/2021
1Infections
05/2021
11 X-linked Charcot-Marie-Tooth disease
12/2020
1Spontaneous Abortion (Miscarriage)
12/2020
1Familial Amyloid Neuropathies (Familial Amyloid Polyneuropathy)
04/2020
1Diabetic Neuropathies (Diabetic Neuropathy)
04/2020
1Type 2B Charcot-Marie-Tooth disease
01/2020
1Hereditary Sensory and Autonomic Neuropathies (HSAN)
12/2019
1Dementia (Dementias)
01/2017
1Frontotemporal Dementia (Semantic Dementia)
01/2017
1Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease)
01/2017
1Disease Susceptibility (Diathesis)
09/2014
1Frontotemporal Lobar Degeneration (Degeneration, Frontotemporal Lobar)
09/2014
1Type 1e Demyelinating Charcot-Marie-Tooth Disease
12/2012
1Cognitive Dysfunction
12/2012
1Tremor (Tremors)
01/2012
1Memory Disorders (Memory Loss)
01/2012
1Alzheimer Disease (Alzheimer's Disease)
01/2012
1Ophthalmoplegia (External Ophthalmoplegia)
12/2011
1Leukoencephalopathies
12/2011
1Tomaculous neuropathy
02/2011
1Paraproteinemias (Monoclonal Gammopathy)
02/2011
1Tetanus
01/2010
1Whooping Cough (Pertussis)
01/2010
1Diphtheria
01/2010
1Hypertrophy
12/2009

Drug/Important Bio-Agent (IBA)

5Prealbumin (Transthyretin)IBA
04/2024 - 06/2004
5Myelin P0 Protein (Myelin Protein Zero)IBA
01/2022 - 12/2009
4Biomarkers (Surrogate Marker)IBA
10/2023 - 12/2019
3Amyloid (Amyloid Fibrils)IBA
04/2024 - 10/2020
2patisiranIBA
04/2024 - 04/2020
2ConnexinsIBA
12/2020 - 12/2012
2Gap Junction beta-1 ProteinIBA
12/2020 - 12/2012
2Small Heat-Shock ProteinsIBA
06/2015 - 01/2010
2Proteins (Proteins, Gene)FDA Link
09/2014 - 02/2011
2Myelin ProteinsIBA
12/2012 - 04/2011
2Ascorbic Acid (Vitamin C)FDA LinkGeneric
04/2011 - 12/2006
14-amino-4'-hydroxylaminodiphenylsulfone (HADS)IBA
11/2023
1Analgesics (Analgesic Drugs)IBA
01/2023
1Antidepressive Agents (Antidepressants)IBA
01/2023
1Anti-Anxiety Agents (Anxiolytics)IBA
01/2023
1Replication Protein C (Replication Factor C)IBA
11/2021
1Immunoglobulins (Immunoglobulin)IBA
05/2021
15' Untranslated Regions (5' UTR)IBA
12/2020
1Diflunisal (Dolobid)FDA Link
04/2020
1tafamidisIBA
04/2020
1InotersenIBA
04/2020
1PeripherinsIBA
01/2020
1bis(tri- n- hexylsiloxy)(2,3- naphthalocyaninato)silicon (SINC)IBA
01/2020
1GTP Phosphohydrolases (GTPases)IBA
01/2020
1Phosphotransferases (Kinase)IBA
01/2017
1Flavin-Adenine Dinucleotide (FAD)IBA
01/2012
1Presenilin-2IBA
01/2012
1Thymidine PhosphorylaseIBA
12/2011
1Cerebrospinal Fluid ProteinsIBA
06/2011
1Vascular Endothelial Growth Factor A (Vascular Endothelial Growth Factor)IBA
02/2011
1Nonsense Codon (Nonsense Mutation)IBA
02/2011
1Terminator Codon (Termination Codon)IBA
02/2011
1RNA Splice SitesIBA
02/2011
1A 7 (A-7)IBA
02/2011
1Tetanus Toxoid (Vaccine, Tetanus)FDA Link
01/2010

Therapy/Procedure

2Therapeutics
10/2023 - 05/2021
1Foot Orthoses
11/2023
1Orthotic Devices (Orthosis)
11/2023
1Cesarean Section (Caesarean Section)
12/2020