Related Experiment Video

Updated: Jul 1, 2025

Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells
09:39

Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells

Published on: July 29, 2016

15.4K

Corrigendum to "Expanding the phenotype of RBCK1-associated polyglucosan body myopathy type 1"

Manuel Pühringer1, Astrid Eisenkölbl1, Gudrun Gröppel1,2

  • 1Department of Paediatrics and Adolescent Medicine, Kepler University Hospital, Linz, Austria.

Molecular Genetics and Metabolism Reports
|March 12, 2024
PubMed

Abstract:

[This corrects the article DOI: 10.1016/j.ymgmr.2023.101031.].

More Related Videos

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

33.8K
Functional Characterization of Endogenously Expressed Human RYR1 Variants
07:59

Functional Characterization of Endogenously Expressed Human RYR1 Variants

Published on: June 9, 2021

2.5K

Related Experiment Videos

Last Updated: Jul 1, 2025

Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells
09:39

Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells

Published on: July 29, 2016

15.4K
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

33.8K
Functional Characterization of Endogenously Expressed Human RYR1 Variants
07:59

Functional Characterization of Endogenously Expressed Human RYR1 Variants

Published on: June 9, 2021

2.5K

Related Concept Videos

Lysosomal Hydrolases01:22

Lysosomal Hydrolases

3.8K
Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
3.8K

Articles linked to this work by shared authors, journal, and citation graph.

Combined Histological and Proteomic Analysis Reveals Muscle Denervation in KMT5B-Related Neurodevelopmental Disorder: A Case Report.

Journal of clinical medicine·2025

Delphi consensus on gene therapy of spinal muscular atrophy with onasemnogene abeparvovec in Germany, Austria and Switzerland-part I-systematic literature review and existing evidence.

Journal of neuromuscular diseases·2025

One Size Does Not Fit All: Novel Individualized Use of Dexamethasone in Infantile Epileptic Spasms Syndrome.

Neurology and therapy·2025

Phenotypic intrafamilial variability of 5q-associated spinal muscular atrophy: A systematic multicentre sibling study.

Journal of neuromuscular diseases·2025

A20 (TNFAIP3) Distinguishes Attack From Remission in Pediatric Patients With Monophasic MOGAD.

Neurology(R) neuroimmunology & neuroinflammation·2025

Congenital-onset MLASA2 from a novel YARS2 variant: A literature review.

Journal of neuromuscular diseases·2025

DNAJC12 p.Asp44Gly associated with mild hyperphenylalaninemia and migraine-like headaches: Structural and deep learning analyses.

Molecular genetics and metabolism reports·2026

A blended phenotype of primary immunodeficiency and Temtamy syndrome: Dual homozygosity for STK4 and C12orf57 gene variants in a Tunisian infant.

Molecular genetics and metabolism reports·2026

Empagliflozin in GSD-Ib: Long-term safety and sustained recovery of neutrophil function including NET formation.

Molecular genetics and metabolism reports·2026

Molecular and clinical heterogeneity in an Iranian case series of Joubert syndrome.

Molecular genetics and metabolism reports·2026

Plasma KL-6 reflects pulmonary severity and longitudinal response to enzyme replacement therapy in acid sphingomyelinase deficiency type B.

Molecular genetics and metabolism reports·2026

Mucopolysaccharidosis type IIIA and IIIC phenotypic progression: A case series.

Molecular genetics and metabolism reports·2026

Implementing Pharmacogenomics in Contemporary Hospital Care: Insights from Multidisciplinary Knowledge Exchange.

Pharmacogenomics and personalized medicine·2026

Reprogramming pain signaling through photopharmacology.

Trends in pharmacological sciences·2026

The impact of virtual reality simulation on developing competence and confidence in non-technical skills in nursing. A scoping review.

Nurse education today·2026

Label-free electrochemical aptasensor for sensitive and selective recognition of N6-Methyladenosine: Applicability in human urine.

Talanta·2026

Single-Fiber Hair Holder: a hair fiber mounting tool for advanced cuticle surface analysis.

Journal of the mechanical behavior of biomedical materials·2026

BEYOND THE GENETIC CODE: SYSTEMIC REGULATORY MELTDOWN AS A FRAMEWORK FOR PRIMARY EPIGENETIC DISEASES.

Georgian medical news·2026
See all related articles
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies
Jove
Visualize
Contact Us