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Encephalitis-like episodes with cortical edema and enhancement in patients with neuronal intranuclear inclusion disease.
- Published in:
- Neurological Sciences, 2024, v. 45, n. 9, p. 4501, doi. 10.1007/s10072-024-07492-x
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- Article
The polyG diseases: a new disease entity.
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- Acta Neuropathologica Communications, 2022, v. 10, n. 1, p. 1, doi. 10.1186/s40478-022-01383-y
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- Publication type:
- Article
Effect of Dl-3-n-butylphthalide on mitochondrial Cox7c in models of cerebral ischemia/reperfusion injury.
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- Frontiers in Pharmacology, 2023, v. 14, p. 1, doi. 10.3389/fphar.2023.1084564
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- Article
GGC Repeat Expansion in the NOTCH2NLC Gene Is Associated With a Phenotype of Predominant Motor–Sensory and Autonomic Neuropathy.
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- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.694790
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- Article
A Myb enhancer-guided analysis of basophil and mast cell differentiation.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-34906-1
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- Article
The GGC repeat expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy type 3.
- Published in:
- 2021
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- Publication type:
- journal article
Sporadic adult-onset neuronal intranuclear inclusion disease without high-intensity signal on DWI and T2WI: a case report.
- Published in:
- 2022
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- Publication type:
- journal article
TDP-43 induces mitochondrial damage and activates the mitochondrial unfolded protein response.
- Published in:
- PLoS Genetics, 2019, v. 15, n. 5, p. 1, doi. 10.1371/journal.pgen.1007947
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- Publication type:
- Article
Novel variants, muscle imaging, and myopathological changes in Chinese patients with VCP‐related multisystem proteinopathy.
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- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 7, p. 1, doi. 10.1002/mgg3.2176
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- Publication type:
- Article
Salivary Microbiome Profile of Diabetes and Periodontitis in a Chinese Population.
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- Frontiers in Cellular & Infection Microbiology, 2022, v. 12, p. 1, doi. 10.3389/fcimb.2022.933833
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- Publication type:
- Article
The Th17/Treg cell balance: crosstalk among the immune system, bone and microbes in periodontitis.
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- Journal of Periodontal Research, 2022, v. 57, n. 2, p. 246, doi. 10.1111/jre.12958
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- Publication type:
- Article
Clinical and pathological characteristics of OPDM4 patients in advanced disease.
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- Muscle & Nerve, 2024, v. 70, n. 4, p. 744, doi. 10.1002/mus.28200
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- Article
Neuronal intranuclear inclusion disease presented with recurrent vestibular migraine-like attack: a case presentation.
- Published in:
- 2021
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- Publication type:
- journal article
Skeletal Muscle Involvement Pattern of Hereditary Transthyretin Amyloidosis: A Study Based on Muscle MRI.
- Published in:
- Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.851190
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- Publication type:
- Article
Profiling of Differentially Expressed MicroRNAs in Saliva of Parkinson's Disease Patients.
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- Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.738530
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- Publication type:
- Article
Bioinformatics analysis of HLA-A2 restricted neoantigen epitopes in breast cancer.
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- Chinese Journal of Cancer Biotherapy, 2020, v. 27, n. 4, p. 427, doi. 10.3872/j.issn.1007-385x.2020.04.014
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- Publication type:
- Article
Complex I deficiency in m.3243A>G fibroblasts is alleviated by reducing NADH accumulation.
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- Frontiers in Physiology, 2023, p. 1, doi. 10.3389/fphys.2023.1164287
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- Publication type:
- Article
Urine cytological study in patients with clinicopathologically confirmed neuronal intranuclear inclusion disease.
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- Frontiers in Aging Neuroscience, 2022, v. 14, p. 1, doi. 10.3389/fnagi.2022.977604
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- Publication type:
- Article
Connexin43 promotes angiogenesis through activating the HIF-1α/VEGF signaling pathway under chronic cerebral hypoperfusion.
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- Journal of Cerebral Blood Flow & Metabolism, 2021, v. 41, n. 10, p. 2656, doi. 10.1177/0271678X211010354
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- Publication type:
- Article
A novel SPAST gene mutation identified in a Chinese family with hereditary spastic paraplegia.
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- BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-01053-7
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- Publication type:
- Article
Clinical and biochemical characterization of hereditary transthyretin amyloidosis caused by E61K mutation.
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- Frontiers in Molecular Neuroscience, 2022, v. 15, p. 1, doi. 10.3389/fnmol.2022.1003303
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- Publication type:
- Article
Skin biopsy and neuronal intranuclear inclusion disease.
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- Journal of Dermatology, 2023, v. 50, n. 11, p. 1367, doi. 10.1111/1346-8138.16966
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- Publication type:
- Article
Multiomics analysis reveals serine catabolism as a potential therapeutic target for MELAS.
- Published in:
- FASEB Journal, 2024, v. 38, n. 12, p. 1, doi. 10.1096/fj.202302286RRR
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- Publication type:
- Article
Cilostazol ameliorates ischemia/reperfusion-induced tight junction disruption in brain endothelial cells by inhibiting endoplasmic reticulum stress.
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- FASEB Journal, 2019, v. 33, n. 9, p. 10152, doi. 10.1096/fj.201900326R
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- Publication type:
- Article
Subsarcolemmal and cytoplasmic p62 positivity and rimmed vacuoles are distinctive for PLIN4‐myopathy.
- Published in:
- 2022
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- Publication type:
- Case Study
Patterns of myelinated nerve fibers loss in transthyretin amyloid polyneuropathy and mimics.
- Published in:
- Annals of Clinical & Translational Neurology, 2022, v. 9, n. 7, p. 1059, doi. 10.1002/acn3.51599
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- Publication type:
- Article
Genetic spectrum in a cohort of patients with distal hereditary motor neuropathy.
- Published in:
- Annals of Clinical & Translational Neurology, 2022, v. 9, n. 5, p. 633, doi. 10.1002/acn3.51543
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- Publication type:
- Article
GGC repeat expansions in NOTCH2NLC causing a phenotype of distal motor neuropathy and myopathy.
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- Annals of Clinical & Translational Neurology, 2021, v. 8, n. 6, p. 1330, doi. 10.1002/acn3.51371
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- Publication type:
- Article
Mitochondrial morphology and MAVS‐IFN1 signaling pathway in muscles of anti‐MDA5 dermatomyositis.
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- Annals of Clinical & Translational Neurology, 2021, v. 8, n. 3, p. 677, doi. 10.1002/acn3.51311
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- Publication type:
- Article
Frameshift mutation in SQSTM1 causes proximal myopathy with rimmed vacuoles: A case report.
- Published in:
- Frontiers in Neurology, 2023, v. 14, p. 1, doi. 10.3389/fneur.2023.1043136
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- Publication type:
- Article
Unraveling rare form of adult-onset NIID by characteristic brain MRI features: A single-center retrospective review .
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- Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.1085283
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- Publication type:
- Article
Immediate liposuction could shorten the time for endoscopic axillary lymphadenectomy in breast cancer patients.
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- World Journal of Surgical Oncology, 2017, v. 15, p. 1, doi. 10.1186/s12957-017-1106-7
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- Publication type:
- Article
Clinical, muscle imaging, and genetic characteristics of dystrophinopathies with deep-intronic DMD variants.
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- Journal of Neurology, 2023, v. 270, n. 2, p. 925, doi. 10.1007/s00415-022-11432-0
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- Publication type:
- Article
Circulating cell-free mtDNA release is associated with the activation of cGAS-STING pathway and inflammation in mitochondrial diseases.
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- Journal of Neurology, 2022, v. 269, n. 9, p. 4985, doi. 10.1007/s00415-022-11146-3
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- Publication type:
- Article
Clinical and pathological features in adult-onset NIID patients with cortical enhancement.
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- Journal of Neurology, 2020, v. 267, n. 11, p. 3187, doi. 10.1007/s00415-020-09945-7
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- Publication type:
- Article
Endoscopic axillary lymphadenectomy combined with laparoscopically harvested pedicled omentum for immediate breast reconstruction.
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- Surgical Endoscopy & Other Interventional Techniques, 2015, v. 29, n. 6, p. 1376, doi. 10.1007/s00464-014-3808-z
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- Publication type:
- Article
COASY variant as a new genetic cause of riboflavin-responsive lipid storage myopathy.
- Published in:
- Cell Discovery, 2024, v. 10, n. 1, p. 1, doi. 10.1038/s41421-023-00641-0
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- Publication type:
- Article
PINK1 and Parkin are genetic modifiers for FUS-induced neurodegeneration.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 23, p. 5059, doi. 10.1093/hmg/ddw310
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- Publication type:
- Article
An ALS-mutant TDP-43 neurotoxic peptide adopts an anti-parallel β-structure and induces TDP-43 redistribution.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 25, p. 6863, doi. 10.1093/hmg/ddu409
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- Publication type:
- Article
An ALS-mutant TDP-43 neurotoxic peptide adopts an anti-parallel β-structure and induces TDP-43 redistribution.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 25, p. 1, doi. 10.1093/hmg/ddu409
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- Publication type:
- Article
Subclinical peripheral neuropathy is common in neuronal intranuclear inclusion disease with dominant encephalopathy.
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- European Journal of Neurology, 2023, v. 30, n. 2, p. 527, doi. 10.1111/ene.15606
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- Publication type:
- Article
CAG Repeat Expansion in THAP11 Is Associated with a Novel Spinocerebellar Ataxia.
- Published in:
- Movement Disorders, 2023, v. 38, n. 7, p. 1282, doi. 10.1002/mds.29412
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- Publication type:
- Article
Diagnostic Value of Salivary Real-Time Quaking-Induced Conversion in Parkinson's Disease and Multiple System Atrophy.
- Published in:
- 2022
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- Publication type:
- journal article
Novel mutation of SMPX-related scapuloperoneal myopathy and myofibrillar myopathy.
- Published in:
- Acta Neuropathologica, 2024, v. 148, n. 1, p. 1, doi. 10.1007/s00401-024-02798-8
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- Publication type:
- Article
Ferroptosis: A New Development Trend in Periodontitis.
- Published in:
- Cells (2073-4409), 2022, v. 11, n. 21, p. 3349, doi. 10.3390/cells11213349
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- Publication type:
- Article
Exonization of a deep intronic long interspersed nuclear element in Becker muscular dystrophy.
- Published in:
- 2022
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- Publication type:
- Case Study
Juvenile-onset PSAT1-related neuropathy: A milder phenotype of serine deficiency disorder.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.949038
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- Publication type:
- Article
The role of Nrf2 in periodontal disease by regulating lipid peroxidation, inflammation and apoptosis.
- Published in:
- Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.963451
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- Publication type:
- Article
Novel and Recurrent Mutations in a Cohort of Chinese Patients With Young-Onset Amyotrophic Lateral Sclerosis.
- Published in:
- Frontiers in Neuroscience, 2019, v. 13, p. 1, doi. 10.3389/fnins.2019.01289
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- Publication type:
- Article
The role of AFAP1-AS1 in mitotic catastrophe and metastasis of triple-negative breast cancer cells by activating the PLK1 signaling pathway.
- Published in:
- Oncology Research, 2023, v. 31, n. 3, p. 375, doi. 10.32604/or.2023.028256
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- Publication type:
- Article