"Fingerprint inclusions" in muscle fibres in dystrophia myotonica

Cardiac arrhythmia and late-onset muscle weakness caused by a myofibrillar myopathy with unusual histopathological features due to a novel missense mutation in FLNC.

Revue neurologique·2016

[Congenital myasthenic syndromes: difficulties in the diagnosis, course and prognosis, and therapy--The French National Congenital Myasthenic Syndrome Network experience].

Revue neurologique·2013

Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization.

Neuropathology and applied neurobiology·2010

Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7.

Journal of neurology·2009

New morphologic and genetic findings in cap disease associated with beta-tropomyosin (TPM2) mutations.

Neurology·2008

Distinct muscle imaging patterns in myofibrillar myopathies.

Neurology·2008

Deletion or immunotherapeutic blockade of FcγRIIb (CD32b) impairs α-Syn propagation in vivo.

Acta neuropathologica·2026

Functional proteomic and phosphoproteomic profiling of routine FFPE CNS tumor tissue complements genomic and epigenomic characterization.

Acta neuropathologica·2026

Integrative synaptosome multi-omics reveals disrupted synapse organization and localized cryptic transcripts in C9ORF72-frontotemporal dementia.

Acta neuropathologica·2026

Integrated multi-omics identifies lineage-dependent myeloid cells recruitment and the APP-CD74 axis as an immunoregulatory target in pediatric high-grade glioma.

Acta neuropathologica·2026

Life at the interface: Byron Caughey's search for prion disease inhibitors through chemistry, structure, and cell physiology.

Acta neuropathologica·2026

Peripheral TDP-43 pathology in amyotrophic lateral sclerosis: toward a systemic proteinopathy.

Acta neuropathologica·2026

The Tensile Expansion Microscopy (TExM) cell stretcher: an iris expansion device integrated with automated real-time autofocus and tracking to super-resolve cells.

bioRxiv : the preprint server for biology·2026

Mechanosignaling Promotes Macrophage Apoptosis Resistance in Pulmonary Fibrosis via Metabolic Reprogramming.

bioRxiv : the preprint server for biology·2026

Bioinspired Continuous 2.5D Woven Miura-ori Metasurface for Mechanically Tunable Microwave Filtering.

ACS applied materials & interfaces·2026

FS-YOLO: A Lightweight Insulator Defect Detection Method Based on Multi-Level Feature Fusion and Localization Quality Estimation.

Sensors (Basel, Switzerland)·2026

MCL-YOLO: A Multi-Module Collaborative Lightweight Object Detection Method for Bridge Crack Detection.

Sensors (Basel, Switzerland)·2026

AI-Enhanced Directional Pedestrian Sensing Using a Single MEMS Accelerometer.

Sensors (Basel, Switzerland)·2026

Related Experiment Videos

"Fingerprint inclusions" in muscle fibres in dystrophia myotonica

Related Concept Videos

Cardiac arrhythmia and late-onset muscle weakness caused by a myofibrillar myopathy with unusual histopathological features due to a novel missense mutation in FLNC.

[Congenital myasthenic syndromes: difficulties in the diagnosis, course and prognosis, and therapy--The French National Congenital Myasthenic Syndrome Network experience].

Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization.

Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7.

New morphologic and genetic findings in cap disease associated with beta-tropomyosin (TPM2) mutations.

Distinct muscle imaging patterns in myofibrillar myopathies.

Deletion or immunotherapeutic blockade of FcγRIIb (CD32b) impairs α-Syn propagation in vivo.

Functional proteomic and phosphoproteomic profiling of routine FFPE CNS tumor tissue complements genomic and epigenomic characterization.

Integrative synaptosome multi-omics reveals disrupted synapse organization and localized cryptic transcripts in C9ORF72-frontotemporal dementia.

Integrated multi-omics identifies lineage-dependent myeloid cells recruitment and the APP-CD74 axis as an immunoregulatory target in pediatric high-grade glioma.

Life at the interface: Byron Caughey's search for prion disease inhibitors through chemistry, structure, and cell physiology.

Peripheral TDP-43 pathology in amyotrophic lateral sclerosis: toward a systemic proteinopathy.

The Tensile Expansion Microscopy (TExM) cell stretcher: an iris expansion device integrated with automated real-time autofocus and tracking to super-resolve cells.

Mechanosignaling Promotes Macrophage Apoptosis Resistance in Pulmonary Fibrosis via Metabolic Reprogramming.

Bioinspired Continuous 2.5D Woven Miura-ori Metasurface for Mechanically Tunable Microwave Filtering.

FS-YOLO: A Lightweight Insulator Defect Detection Method Based on Multi-Level Feature Fusion and Localization Quality Estimation.

MCL-YOLO: A Multi-Module Collaborative Lightweight Object Detection Method for Bridge Crack Detection.

AI-Enhanced Directional Pedestrian Sensing Using a Single MEMS Accelerometer.

Related Experiment Videos

"Fingerprint inclusions" in muscle fibres in dystrophia myotonica

Related Concept Videos

Related Articles