Jack Puymirat Selected Research

Myotonic Dystrophy (Dystrophia Myotonica)

10/2023	Generation of induced pluripotent stem cell lines from pediatric patients with congenital myotonic dystrophy (CBRCULi012-A and CBRCULi013-A) and age-matched controls (CBRCULi010-A and CBRCULi011-A)
1/2023	Cardiac involvement in patient-specific induced pluripotent stem cells of myotonic dystrophy type 1: unveiling the impact of voltage-gated sodium channels.
1/2023	Electrophysiological basis of cardiac arrhythmia in a mouse model of myotonic dystrophy type 1.
12/2022	Antisense oligonucleotides as a potential treatment for brain deficits observed in myotonic dystrophy type 1.
11/2022	Recent Progress and Challenges in the Development of Antisense Therapies for Myotonic Dystrophy Type 1.
7/2022	Tau positron emission tomography, cerebrospinal fluid and plasma biomarkers of neurodegeneration, and neurocognitive testing: an exploratory study of participants with myotonic dystrophy type 1.
1/2022	Enhanced Delivery of Ligand-Conjugated Antisense Oligonucleotides (C16-HA-ASO) Targeting Dystrophia Myotonica Protein Kinase Transcripts for the Treatment of Myotonic Dystrophy Type 1.
12/2021	Deciphering the mechanisms underlying brain alterations and cognitive impairment in congenital myotonic dystrophy.
1/2021	iPSC-derived cardiomyocytes from patients with myotonic dystrophy type 1 have abnormal ion channel functions and slower conduction velocities.
1/2020	Towards development of a statistical framework to evaluate myotonic dystrophy type 1 mRNA biomarkers in the context of a clinical trial.

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Jack Puymirat Research Topics

Disease

26	Myotonic Dystrophy (Dystrophia Myotonica) 10/2023 - 05/2003
3	Inborn Genetic Diseases (Disease, Hereditary) 01/2023 - 11/2019
2	Myotonia 01/2023 - 06/2012
2	Rare Diseases (Rare Disease) 01/2020 - 09/2015
2	Neuromuscular Diseases (Neuromuscular Disease) 01/2018 - 01/2017
2	Muscular Dystrophies (Muscular Dystrophy) 06/2017 - 01/2008
1	Neurodevelopmental Disorders 12/2021
1	Cognitive Dysfunction 12/2021
1	Epidermolysis Bullosa Simplex (Epidermolysis Bullosa Herpetiformis Dowling Meara) 01/2020
1	Body Weight (Weight, Body) 06/2017
1	Muscle Weakness 06/2017
1	Nausea 05/2012
1	Sleepiness 05/2012
1	Diarrhea 05/2012
1	Disorders of Excessive Somnolence (Hypersomnia) 05/2012
1	Disease Progression 03/2012
1	Insulin Resistance 10/2009
1	Myotonia Congenita (Thomsen Disease) 02/2008
1	Cardiac Conduction System Disease 01/2008

Drug/Important Bio-Agent (IBA)

7	3' Untranslated Regions (3' UTR)IBA 01/2023 - 05/2003
7	RNA (Ribonucleic Acid)IBA 11/2022 - 01/2008
6	Myotonin-Protein KinaseIBA 10/2023 - 05/2003
5	Protein Kinases (Protein Kinase)IBA 01/2023 - 01/2005
5	Antisense OligonucleotidesIBA 12/2022 - 11/2015
5	Biomarkers (Surrogate Marker)IBA 07/2022 - 04/2010
2	DNA (Deoxyribonucleic Acid)IBA 01/2020 - 09/2015
2	Messenger RNA (mRNA)IBA 01/2020 - 10/2009
1	Voltage-Gated Sodium ChannelsIBA 01/2023
1	LigandsIBA 01/2022
1	CytosineIBA 01/2022
1	GuanineIBA 01/2022
1	ThymineIBA 01/2022
1	Ion Channels (Ion Channel)IBA 01/2021
1	Keratin-14 (Keratin 14)IBA 01/2020
1	Peptides (Polypeptides)IBA 11/2019
1	OligonucleotidesIBA 11/2019
1	milk-derived factorIBA 12/2018
1	Carrier Proteins (Binding Protein)IBA 01/2018
1	RNA-Binding Proteins (RNA-Binding Protein)IBA 01/2018
1	Proteins (Proteins, Gene)FDA Link 01/2018
1	ISIS 486178IBA 06/2017
1	Nuclear RNAIBA 01/2017
1	Sodium Channels (Sodium Channel)IBA 06/2012
1	Methylphenidate (Ritalin)FDA LinkGeneric 05/2012
1	Dinoprostone (PGE2)FDA Link 01/2012
1	Insulin ReceptorIBA 10/2009
1	Chloride Channels (Chloride Channel)IBA 02/2008
1	Transcription Factors (Transcription Factor)IBA 01/2008
1	Connexin 43 (Connexin43)IBA 01/2008
1	Gap Junction alpha-5 ProteinIBA 01/2008
1	Catalytic RNA (Ribozymes)IBA 05/2003
1	hammerhead ribozymeIBA 05/2003

Therapy/Procedure

3	Therapeutics 11/2022 - 01/2020