.

.

Bibliographic Details
Main Authors:	Lukacs Zoltan, Paulina Nieves Cobos, Stephan Wenninger, Tracey A. Willis, Michela Guglieri, Marc Roberts, Rosaline Quinlivan, David Hilton-Jones, Teresinha Evangelista, Stephan Zierz, Beate Schlotter-Weigel, Maggie C Walter, Peter Reilich, Thomas Klopstock, Marcus Deschauer, Volker Straub, Wolfgang Müller-Felber, Benedikt Schoser
Format:	Article
Language:	Russian
Published:	ABV-press 2019-04-01
Series:	Нервно-мышечные болезни
Online Access:	https://nmb.abvpress.ru/jour/article/view/168

Similar Items

Core Clinical Phenotypes in Myotonic Dystrophies
by: Stephan Wenninger, et al.
Published: (2018-05-01)

McArdle Disease: Clinical, Biochemical, Histological and Molecular Genetic Analysis of 60 Patients
by: Pushpa Raj Joshi, et al.
Published: (2020-02-01)

Cellular Stress in the Pathogenesis of Muscular Disorders—From Cause to Consequence
by: Alexander Mensch, et al.
Published: (2020-08-01)

Muscle Carnitine Palmitoyltransferase II (CPT II) Deficiency: A Conceptual Approach
by: Pushpa Raj Joshi, et al.
Published: (2020-04-01)

Cardiolipin Stabilizes and Increases Catalytic Efficiency of Carnitine Palmitoyltransferase II and Its Variants S113L, P50H, and Y479F
by: Beate Meinhardt, et al.
Published: (2021-05-01)

HIV-Associated Cerebellar Dysfunction and Improvement with Aminopyridine Therapy: A Case Report
by: Carolin Hoyer, et al.
Published: (2017-05-01)

Editorial: Lessons Learned from Translational Research in Neuromuscular Diseases: Impact on Study Design, Outcome Measures and Managing Expectation
by: Anna G. Mayhew, et al.
Published: (2022-07-01)

A Straightforward Approach to Analyze Skeletal Muscle MRI in Limb-Girdle Muscular Dystrophy for Differential Diagnosis: A Systematic Review
by: Ryo Morishima, et al.
Published: (2023-11-01)

Inside Humans: Creating a Simple Layered Anatomical Model from Human Surface Scans
by: Martin Komaritzan, et al.
Published: (2021-07-01)

Degeneration of muscle spindles in a murine model of Pompe disease
by: Bridgette Watkins, et al.
Published: (2023-04-01)

Normal Thermostability of p.Ser113Leu and p.Arg631Cys Variants of Mitochondrial Carnitine Palmitoyltransferase II (CPT II) in Human Muscle Homogenate
by: Pushpa Raj Joshi, et al.
Published: (2022-11-01)

Foodborne botulism due to ingestion of home-canned green beans: two case reports
by: Dorothea Hellmich, et al.
Published: (2018-01-01)

Attitudes towards complementary and alternative medicine in chronic pain syndromes: a questionnaire-based comparison between primary headache and low back pain
by: Czaja Eva, et al.
Published: (2011-10-01)

Decreased outlet angle of the superior cerebellar artery as indicator for dolichoectasia in late onset Pompe disease
by: Ole Hensel, et al.
Published: (2018-04-01)

Time to diagnosis of Duchenne muscular dystrophy in Austria and Germany
by: Miriam Hiebeler, et al.
Published: (2023-01-01)

Personality factors in patients with myasthenia gravis: A prospective study
by: Berit Jordan, et al.
Published: (2023-11-01)

Editorial: Beyond Borders: Myotonic Dystrophies–A European Perception
by: Benedikt Schoser, et al.
Published: (2018-09-01)

Characterization of Gait and Postural Regulation in Late-Onset Pompe Disease
by: Ilka Schneider, et al.
Published: (2020-10-01)

Nuclear Small Dystrophin Isoforms during Muscle Differentiation
by: Tina Donandt, et al.
Published: (2023-06-01)

Isolation and Characterization of Primary DMD Pig Muscle Cells as an <i>In Vitro</i> Model for Preclinical Research on Duchenne Muscular Dystrophy
by: Tina Donandt, et al.
Published: (2022-10-01)

Editorial: Implementing new technologies for neuromuscular disorders
by: Nicolas Dubuisson, et al.
Published: (2024-02-01)

Use of peripheral electrical stimulation on healthy individual and patients after stroke and its effects on the somatosensory evoked potentials. A systematic review
by: Marko Mijic, et al.
Published: (2022-11-01)

Nuclear envelope transmembrane proteins involved in genome organization are misregulated in myotonic dystrophy type 1 muscle
by: Vanessa Todorow, et al.
Published: (2023-01-01)

Myotonic Dystrophy—A Progeroid Disease?
by: Peter Meinke, et al.
Published: (2018-07-01)

CRISPR-cas gene-editing as plausible treatment of neuromuscular and nucleotide-repeat-expansion diseases: A systematic review.
by: Haris Babačić, et al.
Published: (2019-01-01)

Actionable Persistent Identifier Collections
by: Tobias Weigel, et al.
Published: (2014-01-01)

Affordable But Not Cheap: A Case Study of the Effects of Two 3D-Reconstruction Methods of Virtual Humans
by: Andrea Bartl, et al.
Published: (2021-09-01)

Palmitate but Not Oleate Exerts a Negative Effect on Oxygen Utilization in Myoblasts of Patients with the m.3243A>G Mutation: A Pilot Study
by: Leila Motlagh Scholle, et al.
Published: (2020-09-01)

Immune-mediated rippling muscle disease with myasthenia gravis: a report of seven patients with long-term follow-up in two.
by: Schoser, B, et al.
Published: (2009)

At-Risk Testing for Pompe Disease Using Dried Blood Spots: Lessons Learned for Newborn Screening
by: Zoltan Lukacs, et al.
Published: (2020-12-01)

Differential Diagnosis of Acquired and Hereditary Neuropathies in Children and Adolescents—Consensus-Based Practice Guidelines
by: Rudolf Korinthenberg, et al.
Published: (2021-08-01)

Physical training for McArdle disease.
by: Quinlivan, R, et al.
Published: (2011)

Physical training for McArdle disease.
by: Quinlivan, R, et al.
Published: (2011)

Jean Starobinski y la melancolía: un paradigma hermenéutico
by: Nieves Marín Cobos
Published: (2023-11-01)

La autoficción como contrapunto a la "novela histórica" de los vencedores: hibridismo y metaficción en <i>La casa del dolor ajeno</i> (2015), de Julián Herbert
by: Nieves Marín Cobos
Published: (2017-12-01)

Nuclear Envelope Transmembrane Proteins in Myotonic Dystrophy Type 1
by: Stefan Hintze, et al.
Published: (2018-10-01)

CTG-Repeat Detection in Primary Human Myoblasts of Myotonic Dystrophy Type 1
by: Stefan Hintze, et al.
Published: (2021-06-01)

"Antibiotics are not automatic anymore"--the French national campaign to cut antibiotic overuse.
by: Benedikt Huttner, et al.
Published: (2009-06-01)

Emerging Disease-Modifying Therapies in Neurodegeneration With Brain Iron Accumulation (NBIA) Disorders
by: Vassilena Iankova, et al.
Published: (2021-04-01)

Comunidad Europea: los reglamentos y leyes sobre la competencia y el proteccionismo
by: Franz Schoser
Published: (1989-06-01)