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J

Julie Brocard

univ. grenoble alpes, inserm, u1216, chu grenoble alpes, grenoble institut neurosciences, grenoble, france

H指数:17

被引数:915

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Limited pre-clinical relevance of the heterozygous RYR1-I4895T/+ mouse model due to its mild phenotype

杂合子RYR1-I4895T/+小鼠模型的临床前相关性有限，因其表型轻微。

Journal of Neuromuscular Diseases

IF3.4

2025-09-190

PRE

RyR1 Is Involved in the Control of Myogenesis

IF5.2

2025-01-210

OAAI

Functional benefit of CRISPR-Cas9-induced allele deletion for RYR1 dominant mutation

MOLECULAR THERAPY NUCLEIC ACIDS

IF6.1

2024-09-012

OAAI

Huntingtin regulates calcium fluxes in skeletal muscle

JOURNAL OF GENERAL PHYSIOLOGY

IF2.9

2022-11-216

OAAI

In vivo RyR1 reduction in muscle triggers a core-like myopathy

ACTA NEUROPATHOLOGICA COMMUNICATIONS

IF5.7

2020-11-1112

OAAI

Variations in the TRPV1 gene are associated to exertional heat stroke

JOURNAL OF SCIENCE AND MEDICINE IN SPORT

IF3.4

2020-11-019

OAAI

Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy

JOURNAL OF MEDICAL GENETICS

IF3.7

2020-09-2913

OAAI

Dynamics of triadin, a muscle-specific triad protein, within sarcoplasmic reticulum subdomains

MOLECULAR BIOLOGY OF THE CELL

IF2.7

2020-02-152

OAAI

Interplay between Triadin and Calsequestrin in the Pathogenesis of CPVT in the Mouse

MOLECULAR THERAPY

IF12

2020-01-0123

OAAI

Familial deep cavitating state with a glutathione metabolism defect

ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY

IF3.9

2019-11-092

OAAI

Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies

ACTA NEUROPATHOLOGICA COMMUNICATIONS

IF5.7

2019-01-0532

OAAI

Interplay between Triadin and Calsequestrin in the Pathogenesis of CPVT

BIOPHYSICAL JOURNAL

IF3.1

2018-02-010

OAAI

Functional Characterization and Rescue of a Deep Intronic Mutation in OCRL Gene Responsible for Lowe Syndrome

IF3.7

2016-11-2114

OAAI

Exon Skipping as a Therapeutic Strategy Applied to a RyR1 Mutation Causing Severe Core Myopathy

BIOPHYSICAL JOURNAL

IF3.1

2013-01-010

OAAI

Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human

HUMAN MOLECULAR GENETICS

IF3.2

2012-03-14213

OAAI

Identification of the First Mutations in the Human Triadin Gene, Associated to Catecholaminergic Tachycardia, a Pathology of the Cardiac Calcium Release Complex

BIOPHYSICAL JOURNAL

IF3.1

2012-01-010

OAAI

Role of triadin in the organization of reticulum membrane at the muscle triad

JOURNAL OF CELL SCIENCE

IF3.6

2012-01-0121

OAAI

Role of Triadin in the Organization of Reticulum Membrane at the Muscle Triad

BIOPHYSICAL JOURNAL

IF3.1

2012-01-010

OAAI

Triadin Deletion Induces Impaired Skeletal Muscle Function

JOURNAL OF BIOLOGICAL CHEMISTRY

IF3.9

2009-12-0171

OAAI

Triadin Function In Sarcoplasmic Reticulum Structure?

BIOPHYSICAL JOURNAL

IF3.1

2009-02-010

OAAI