Mice carrying an analogous heterozygous Dynamin 2 K562E mutation that causes neuropathy in humans develop predominant characteristics of a primary myopathy (Q90026394)

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scientific article published on 04 March 2020

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English	Mice carrying an analogous heterozygous Dynamin 2 K562E mutation that causes neuropathy in humans develop predominant characteristics of a primary myopathy	scientific article published on 04 March 2020

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10 April 2020

Mice carrying an analogous heterozygous Dynamin 2 K562E mutation that causes neuropathy in humans develop predominant characteristics of a primary myopathy (English)

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10 April 2020

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Ueli Suter

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10 April 2020

Klaus Viktor Toyka

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Klaus V Toyka

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10 April 2020

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Jorge A Pereira

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10 April 2020

Joanne Gerber

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10 April 2020

Monica Ghidinelli

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10 April 2020

Daniel Gerber

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10 April 2020

Luigi Tortola

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10 April 2020

Andrea Ommer

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10 April 2020

Sven Bachofner

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10 April 2020

Francesco Santarella

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10 April 2020

Elisa Tinelli

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10 April 2020

Shuo Lin

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10 April 2020

Markus A Rüegg

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10 April 2020

Manfred Kopf

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10 April 2020

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4 March 2020

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10 April 2020

Human Molecular Genetics

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10 April 2020

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Creative Commons Attribution 4.0 International

4 March 2020

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April 2022 Public Data File from Crossref

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describes a project that uses

object named as

EdgeR

1 reference

CZ Software Mentions: A large dataset of software mentions in the biomedical literature

Clinical syndromes associated with tomacula or myelin swellings in sural nerve biopsies

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https://pubmed.ncbi.nlm.nih.gov/32129442

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cre reporter strains produced by targeted insertion of EYFP and ECFP into the ROSA26 locus

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https://pubmed.ncbi.nlm.nih.gov/32129442

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dominant intermediate Charcot-Marie-Tooth neuropathy maps to chromosome 19p12-p13.2.

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https://pubmed.ncbi.nlm.nih.gov/32129442

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Disease mechanisms in inherited neuropathies

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https://pubmed.ncbi.nlm.nih.gov/32129442

12 December 2020

based on heuristic

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Multiple types of skeletal muscle atrophy involve a common program of changes in gene expression

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https://pubmed.ncbi.nlm.nih.gov/32129442

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/32129442

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy

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https://pubmed.ncbi.nlm.nih.gov/32129442

12 December 2020

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inferred from PubMed ID database lookup

Rapid disuse and denervation atrophy involve transcriptional changes similar to those of muscle wasting during systemic diseases

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https://pubmed.ncbi.nlm.nih.gov/32129442

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A selective activity-dependent requirement for dynamin 1 in synaptic vesicle endocytosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/32129442

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/32129442

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy

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https://pubmed.ncbi.nlm.nih.gov/32129442

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dynamin 2 mutations associated with human diseases impair clathrin-mediated receptor endocytosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/32129442

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

edgeR: a Bioconductor package for differential expression analysis of digital gene expression data

1 reference

https://pubmed.ncbi.nlm.nih.gov/32129442

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Coordinated actions of actin and BAR proteins upstream of dynamin at endocytic clathrin-coated pits

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https://pubmed.ncbi.nlm.nih.gov/32129442

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dynamin 2 and human diseases.

1 reference

https://pubmed.ncbi.nlm.nih.gov/32129442

12 December 2020

based on heuristic

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Regulatory interactions between muscle and the immune system during muscle regeneration

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https://pubmed.ncbi.nlm.nih.gov/32129442

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Expression of mitofusin 2(R94Q) in a transgenic mouse leads to Charcot-Marie-Tooth neuropathy type 2A.

1 reference

https://pubmed.ncbi.nlm.nih.gov/32129442

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dynamin 2 mutants linked to centronuclear myopathies form abnormally stable polymers

1 reference

https://pubmed.ncbi.nlm.nih.gov/32129442

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dynamin GTPase regulation is altered by PH domain mutations found in centronuclear myopathy patients

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https://pubmed.ncbi.nlm.nih.gov/32129442

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Increased expression of wild-type or a centronuclear myopathy mutant of dynamin 2 in skeletal muscle of adult mice leads to structural defects and muscle weakness

1 reference

https://pubmed.ncbi.nlm.nih.gov/32129442

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Peripheral neuropathies: Molecular diagnosis of Charcot-Marie-Tooth disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/32129442

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Overlapping role of dynamin isoforms in synaptic vesicle endocytosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/32129442

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mild functional differences of dynamin 2 mutations associated to centronuclear myopathy and Charcot-Marie Tooth peripheral neuropathy.

1 reference

https://pubmed.ncbi.nlm.nih.gov/32129442

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dynamin, a membrane-remodelling GTPase

1 reference

https://pubmed.ncbi.nlm.nih.gov/32129442

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dynamin 2 mutations in Charcot-Marie-Tooth neuropathy highlight the importance of clathrin-mediated endocytosis in myelination

1 reference

https://pubmed.ncbi.nlm.nih.gov/32129442

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Macrophages in injured skeletal muscle: a perpetuum mobile causing and limiting fibrosis, prompting or restricting resolution and regeneration

1 reference

https://pubmed.ncbi.nlm.nih.gov/32129442

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

STAR: ultrafast universal RNA-seq aligner

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https://pubmed.ncbi.nlm.nih.gov/32129442

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Myelin is dependent on the Charcot-Marie-Tooth Type 4H disease culprit protein FRABIN/FGD4 in Schwann cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/32129442

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Electrodiagnostic evaluation of myopathies

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https://pubmed.ncbi.nlm.nih.gov/32129442

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The Subread aligner: fast, accurate and scalable read mapping by seed-and-vote

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https://pubmed.ncbi.nlm.nih.gov/32129442

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Inherited peripheral neuropathies.

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https://pubmed.ncbi.nlm.nih.gov/32129442

12 December 2020

based on heuristic

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Muscle-specific function of the centronuclear myopathy and Charcot-Marie-Tooth neuropathy-associated dynamin 2 is required for proper lipid metabolism, mitochondria, muscle fibers, neuromuscular junctions and peripheral nerves

1 reference

https://pubmed.ncbi.nlm.nih.gov/32129442

12 December 2020

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The nerve biopsy: indications, technical aspects, and contribution

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https://pubmed.ncbi.nlm.nih.gov/32129442

12 December 2020

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Effects of isoflurane anesthesia on F-waves in the sciatic nerve of the adult rat.

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https://pubmed.ncbi.nlm.nih.gov/32129442

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Reducing dynamin 2 expression rescues X-linked centronuclear myopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/32129442

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Polyethylene glycol-coupled IGF1 delays motor function defects in a mouse model of spinal muscular atrophy with respiratory distress type 1.

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https://pubmed.ncbi.nlm.nih.gov/32129442

12 December 2020

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inferred from PubMed ID database lookup

Trimmomatic: a flexible trimmer for Illumina sequence data

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https://pubmed.ncbi.nlm.nih.gov/32129442

12 December 2020

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Lack of neuropathy-related phenotypes in hint1 knockout mice.

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https://pubmed.ncbi.nlm.nih.gov/32129442

12 December 2020

based on heuristic

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Dynamin and endocytosis are required for the fusion of osteoclasts and myoblasts

1 reference

https://pubmed.ncbi.nlm.nih.gov/32129442

12 December 2020

based on heuristic

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Myelination of the nervous system: mechanisms and functions

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https://pubmed.ncbi.nlm.nih.gov/32129442

12 December 2020

based on heuristic

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Neurofilament light polypeptide gene N98S mutation in mice leads to neurofilament network abnormalities and a Charcot-Marie-Tooth Type 2E phenotype

1 reference

https://pubmed.ncbi.nlm.nih.gov/32129442

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Schwann Cells: Development and Role in Nerve Repair

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https://pubmed.ncbi.nlm.nih.gov/32129442

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dynamin-2 mutations associated with centronuclear myopathy are hypermorphic and lead to T-tubule fragmentation

1 reference

https://pubmed.ncbi.nlm.nih.gov/32129442

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Update on Charcot-Marie-Tooth disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/32129442

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease.

1 reference

https://pubmed.ncbi.nlm.nih.gov/32129442

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The genetics of Charcot-Marie-Tooth disease: current trends and future implications for diagnosis and management

1 reference

https://pubmed.ncbi.nlm.nih.gov/32129442

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification and function of conformational dynamics in the multidomain GTPase dynamin

1 reference

https://pubmed.ncbi.nlm.nih.gov/32129442

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons

1 reference

https://pubmed.ncbi.nlm.nih.gov/32129442

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dynamin 1- and 3-Mediated Endocytosis Is Essential for the Development of a Large Central Synapse In Vivo

1 reference

https://pubmed.ncbi.nlm.nih.gov/32129442

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Expression of a dynamin 2 mutant associated with Charcot-Marie-Tooth disease leads to aberrant actin dynamics and lamellipodia formation

1 reference

https://pubmed.ncbi.nlm.nih.gov/32129442

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Generation of human muscle fibers and satellite-like cells from human pluripotent stem cells in vitro

1 reference

https://pubmed.ncbi.nlm.nih.gov/32129442

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multiple dynamin family members collaborate to drive mitochondrial division

1 reference

https://pubmed.ncbi.nlm.nih.gov/32129442

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Niacin-mediated Tace activation ameliorates CMT neuropathies with focal hypermyelination

1 reference

https://pubmed.ncbi.nlm.nih.gov/32129442

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

GAA Deficiency in Pompe Disease Is Alleviated by Exon Inclusion in iPSC-Derived Skeletal Muscle Cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/32129442

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Phenotype variability and histopathological findings in patients with a novel DNM2 mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/32129442

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Axonal Ensheathment in the Nervous System of Lamprey: Implications for the Evolution of Myelinating Glia

1 reference

https://pubmed.ncbi.nlm.nih.gov/32129442

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The Axon-Myelin Unit in Development and Degenerative Disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/32129442

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Reducing dynamin 2 (DNM2) rescues -related dominant centronuclear myopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/32129442

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dynamin 2 (DNM2) as Cause of, and Modifier for, Human Neuromuscular Disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/32129442

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tamoxifen therapy in a murine model of myotubular myopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/32129442

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dynamin-related protein 1 has membrane constricting and severing abilities sufficient for mitochondrial and peroxisomal fission

1 reference

https://pubmed.ncbi.nlm.nih.gov/32129442

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Schwann cells, but not Oligodendrocytes, Depend Strictly on Dynamin 2 Function

1 reference

https://pubmed.ncbi.nlm.nih.gov/32129442

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Grey matter myelination

1 reference

https://pubmed.ncbi.nlm.nih.gov/32129442

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial fission requires DRP1 but not dynamins

1 reference

https://pubmed.ncbi.nlm.nih.gov/32129442

12 December 2020

based on heuristic

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Defects in Axonal Transport in Inherited Neuropathies

1 reference

https://pubmed.ncbi.nlm.nih.gov/32129442

12 December 2020

based on heuristic

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A new patient-derived iPSC model for dystroglycanopathies validates a compound that increases glycosylation of α-dystroglycan

1 reference

https://pubmed.ncbi.nlm.nih.gov/32129442

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Different in vivo impacts of dynamin 2 mutations implicated in Charcot-Marie-Tooth neuropathy or centronuclear myopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/32129442

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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