CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy

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Large phenotypic variability with severe respiratory involvement in MEGF10-related myopathies: Description of three cases.

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Autosomal Dominant Missense DAG1 Variant Linked to Mild-Moderate LGMD R16.

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Circulating MYOM3 fragments reflect disease severity and therapeutic efficacy in tubular aggregate myopathy and Stormorken syndrome.

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Nicotinamide riboside prevents mitochondrial dysfunction in nemaline myopathy type 6.

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Case Report: a novel PNPLA2 homozygous frameshift variant causing severe neutral lipid storage disease with myopathy (NLSDM) in a Moroccan patient.

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Genetic subtypes of multiple sclerosis severity are uncoupled from inflammatory lesion burden.

Acta neuropathologica·2026

Emerging roles of granzymes in neurodegeneration and neuroinflammation: mechanistic insights and therapeutic opportunities.

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Sellar region neurocytomas exhibit a CIMP and neuroendocrine-like epigenetic signature distinct from other intra-axial neurocytomas.

Acta neuropathologica·2026

Cerebrospinal fluid cell-free DNA sequencing in pediatric CNS tumors: towards liquid molecular neuropathology.

Acta neuropathologica·2026

Activated microglial phenotypes in the hippocampal CA2 subfield are implicated in Lewy body disease progression.

Acta neuropathologica·2026

Microglial 5-LOX-activating protein antagonism alleviates leukotriene-driven neuroinflammation.

Acta neuropathologica·2026

Paraspeckle-Mediated Integration of Nuclear RNA Regulation in Skeletal Homeostasis and Pathological Disorder.

Calcified tissue international·2026

The cavitary corpus luteum: opportunity or threat for bovine reproduction?

The Journal of reproduction and development·2026

Structural determinants of quadriceps atrophy following ACL injury: Evidence for fibre atrophy without fibre loss or overt peripheral denervation.

The Journal of physiology·2026

Intracranial solitary fibrous tumor with multiloculated cystic change: A case report.

Radiology case reports·2026

Caroli cyst presenting as recurrent biliary colic with cholesterol cholelithiasis: A case report and review of the literature.

Radiology case reports·2026

Aged tendons have impaired mechanosensitivity and lower thresholds for injury under dynamic compression.

Journal of biomechanics·2026

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CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy

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Clinical, Histological, and Genetic Characterization of a Large Cohort of 49 Patients With Nebulin-Related Congenital Myopathy.

Large phenotypic variability with severe respiratory involvement in MEGF10-related myopathies: Description of three cases.

Autosomal Dominant Missense DAG1 Variant Linked to Mild-Moderate LGMD R16.

Circulating MYOM3 fragments reflect disease severity and therapeutic efficacy in tubular aggregate myopathy and Stormorken syndrome.

Nicotinamide riboside prevents mitochondrial dysfunction in nemaline myopathy type 6.

Case Report: a novel PNPLA2 homozygous frameshift variant causing severe neutral lipid storage disease with myopathy (NLSDM) in a Moroccan patient.

Genetic subtypes of multiple sclerosis severity are uncoupled from inflammatory lesion burden.

Emerging roles of granzymes in neurodegeneration and neuroinflammation: mechanistic insights and therapeutic opportunities.

Sellar region neurocytomas exhibit a CIMP and neuroendocrine-like epigenetic signature distinct from other intra-axial neurocytomas.

Cerebrospinal fluid cell-free DNA sequencing in pediatric CNS tumors: towards liquid molecular neuropathology.

Activated microglial phenotypes in the hippocampal CA2 subfield are implicated in Lewy body disease progression.

Microglial 5-LOX-activating protein antagonism alleviates leukotriene-driven neuroinflammation.

Paraspeckle-Mediated Integration of Nuclear RNA Regulation in Skeletal Homeostasis and Pathological Disorder.

The cavitary corpus luteum: opportunity or threat for bovine reproduction?

Structural determinants of quadriceps atrophy following ACL injury: Evidence for fibre atrophy without fibre loss or overt peripheral denervation.

Intracranial solitary fibrous tumor with multiloculated cystic change: A case report.

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CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy

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