Found: 55
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Adult-onset nemaline myopathy due to a novel homozygous variant in the TNNT1 gene.
- Published in:
- 2022
- By:
- Publication type:
- Letter
Muscle fiber type proportion and size is not altered in mcardle disease.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Myopathic mtDNA Depletion Syndrome Due to Mutation in TK2 Gene.
- Published in:
- 2017
- By:
- Publication type:
- Case Study
Spinal tanycytic ependymoma associated with neurofibromatosis type 2.
- Published in:
- Clinical Neuropathology, 2014, v. 33, n. 4, p. 311, doi. 10.5414/NP300704
- By:
- Publication type:
- Article
Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy.
- Published in:
- 2012
- By:
- Publication type:
- journal article
Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy.
- Published in:
- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 82, doi. 10.1186/1750-1172-7-82
- By:
- Publication type:
- Article
Biallelic variants in SNUPN cause a limb girdle muscular dystrophy with myofibrillar-like features.
- Published in:
- Brain: A Journal of Neurology, 2024, v. 147, n. 8, p. 2867, doi. 10.1093/brain/awae046
- By:
- Publication type:
- Article
Ablation of the carboxy-terminal end of MAMDC2 causes a distinct muscular dystrophy.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 12, p. 5235, doi. 10.1093/brain/awad256
- By:
- Publication type:
- Article
A novel MLIP truncating variant in an 80-year-old patient with late-onset progressive weakness.
- Published in:
- 2022
- By:
- Publication type:
- journal article
MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated serum creatine kinase.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Adult-onset distal spinal muscular atrophy: a new phenotype associated with KIF5A mutations.
- Published in:
- 2019
- By:
- Publication type:
- Letter
Glycogenin is Dispensable for Glycogen Synthesis in Human Muscle, and Glycogenin Deficiency Causes Polyglucosan Storage.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Clinical, Histopathologic and Genetic Features of Rhabdoid Meningiomas.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 2, p. 1116, doi. 10.3390/ijms24021116
- By:
- Publication type:
- Article
Heterozygous and Homozygous Variants in SORL1 Gene in Alzheimer's Disease Patients: Clinical, Neuroimaging and Neuropathological Findings.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 8, p. 4230, doi. 10.3390/ijms23084230
- By:
- Publication type:
- Article
Preferent Diaphragmatic Involvement in TK2 Deficiency: An Autopsy Case Study.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 11, p. 5598, doi. 10.3390/ijms22115598
- By:
- Publication type:
- Article
Inhibition of DYRK1A destabilizes EGFR and reduces EGFR-dependent glioblastoma growth.
- Published in:
- Journal of Clinical Investigation, 2013, v. 123, n. 7, p. 2475, doi. 10.1172/JCI63623
- By:
- Publication type:
- Article
Inhibition of DYRK1A destabilizes EGFR and reduces EGFR-dependent glioblastoma growth.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Inhibition of DYRK1A destabilizes EGFR and reduces EGFR-dependent glioblastoma growth.
- Published in:
- Journal of Clinical Investigation, 2013, v. 123, n. 6, p. 2475, doi. 10.1172/JCI63623
- By:
- Publication type:
- Article
Concurrent progressive multifocal leukoencephalopathy and central nervous system infiltration by multiple myeloma: A case report.
- Published in:
- Journal of Oncology Pharmacy Practice, 2019, v. 25, n. 4, p. 998, doi. 10.1177/1078155218769367
- By:
- Publication type:
- Article
Integrated Analysis of Mismatch Repair System in Malignant Astrocytomas.
- Published in:
- PLoS ONE, 2013, v. 8, n. 9, p. 1, doi. 10.1371/journal.pone.0076401
- By:
- Publication type:
- Article
Late-onset thymidine kinase 2 deficiency: a review of 18 cases.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Myosin myopathy with external ophthalmoplegia associated with a novel homozygous mutation in MYH2.
- Published in:
- 2017
- By:
- Publication type:
- journal article
A milder phenotype of megaconial congenital muscular dystrophy due to a novel CHKB mutation.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
Delayed Diagnosis of Congenital Myasthenic Syndromes Erroneously Interpreted as Mitochondrial Myopathies.
- Published in:
- Journal of Clinical Medicine, 2023, v. 12, n. 9, p. 3308, doi. 10.3390/jcm12093308
- By:
- Publication type:
- Article
Clinical, Histological, and Genetic Features of 25 Patients with Autosomal Dominant Progressive External Ophthalmoplegia (ad-PEO)/PEO-Plus Due to TWNK Mutations.
- Published in:
- Journal of Clinical Medicine, 2022, v. 11, n. 1, p. 22, doi. 10.3390/jcm11010022
- By:
- Publication type:
- Article
Safety and Efficacy of Crizotinib in Combination with Temozolomide and Radiotherapy in Patients with Newly Diagnosed Glioblastoma: Phase Ib GEINO 1402 Trial.
- Published in:
- Cancers, 2022, v. 14, n. 10, p. 2393, doi. 10.3390/cancers14102393
- By:
- Publication type:
- Article
Immune Profiling of Gliomas Reveals a Connection with IDH1/2 Mutations, Tau Function and the Vascular Phenotype.
- Published in:
- Cancers, 2020, v. 12, n. 11, p. 3230, doi. 10.3390/cancers12113230
- By:
- Publication type:
- Article
The EGFR-TMEM167A-p53 Axis Defines the Aggressiveness of Gliomas.
- Published in:
- Cancers, 2020, v. 12, n. 1, p. 208, doi. 10.3390/cancers12010208
- By:
- Publication type:
- Article
NFATc3 controls tumour growth by regulating proliferation and migration of human astroglioma cells.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-45731-w
- By:
- Publication type:
- Article
Phase II trial of dacomitinib, a pan‒human EGFR tyrosine kinase inhibitor, in recurrent glioblastoma patients with EGFR amplification.
- Published in:
- Neuro-Oncology, 2017, v. 19, n. 11, p. 1522, doi. 10.1093/neuonc/nox105
- By:
- Publication type:
- Article
Glioblastoma on a microfluidic chip: Generating pseudopalisades and enhancing aggressiveness through blood vessel obstruction events.
- Published in:
- Neuro-Oncology, 2017, v. 19, n. 4, p. 503, doi. 10.1093/neuonc/now230
- By:
- Publication type:
- Article
Normal tissue content impact on the GBM molecular classification.
- Published in:
- Briefings in Bioinformatics, 2021, v. 22, n. 3, p. 1, doi. 10.1093/bib/bbaa129
- By:
- Publication type:
- Article
The IDH-TAU-EGFR triad defines the neovascular landscape of diffuse gliomas.
- Published in:
- Science Translational Medicine, 2020, v. 12, n. 527, p. 1, doi. 10.1126/scitranslmed.aax1501
- By:
- Publication type:
- Article
Ocoxin Modulates Cancer Stem Cells and M2 Macrophage Polarization in Glioblastoma.
- Published in:
- Oxidative Medicine & Cellular Longevity, 2019, p. 1, doi. 10.1155/2019/9719730
- By:
- Publication type:
- Article
A new muscle glycogen storage disease associated with glycogenin-1 deficiency.
- Published in:
- Annals of Neurology, 2014, v. 76, n. 6, p. 891, doi. 10.1002/ana.24284
- By:
- Publication type:
- Article
Distal hereditary motor neuronopathy as a new phenotype associated with variants in BAG3.
- Published in:
- Journal of Neurology, 2024, v. 271, n. 2, p. 986, doi. 10.1007/s00415-023-12039-9
- By:
- Publication type:
- Article
Persistent asymptomatic or mild symptomatic hyperCKemia due to mutations in ANO5: the mildest end of the anoctaminopathies spectrum.
- Published in:
- Journal of Neurology, 2020, v. 267, n. 9, p. 2546, doi. 10.1007/s00415-020-09872-7
- By:
- Publication type:
- Article
Bethlem myopathy: a series of 16 patients and description of seven new associated mutations.
- Published in:
- Journal of Neurology, 2019, v. 266, n. 4, p. 934, doi. 10.1007/s00415-019-09217-z
- By:
- Publication type:
- Article
PET-Florbetapir findings in primary cerebral amyloidoma.
- Published in:
- 2015
- By:
- Publication type:
- Letter
Blood-Brain Barrier Disruption: A Common Driver of Central Nervous System Diseases.
- Published in:
- Neuroscientist, 2022, v. 28, n. 3, p. 222, doi. 10.1177/1073858420985838
- By:
- Publication type:
- Article
Paired Primary and Recurrent Rhabdoid Meningiomas: Cytogenetic Alterations, BAP1 Gene Expression Profile and Patient Outcome.
- Published in:
- Biology (2079-7737), 2024, v. 13, n. 5, p. 350, doi. 10.3390/biology13050350
- By:
- Publication type:
- Article
Localized Bilateral Superior and Inferior Orbital Neurofibroma in the Absence of Neurofibromatosis.
- Published in:
- Case Reports in Ophthalmological Medicine, 2021, p. 1, doi. 10.1155/2021/6655134
- By:
- Publication type:
- Article
SOD1 mutations in adult‐onset distal spinal muscular atrophy.
- Published in:
- European Journal of Neurology, 2020, v. 27, n. 11, p. e75, doi. 10.1111/ene.14426
- By:
- Publication type:
- Article
Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure.
- Published in:
- Acta Neuropathologica, 2023, v. 145, n. 1, p. 127, doi. 10.1007/s00401-022-02510-8
- By:
- Publication type:
- Article
Codeletion of 1p and 19q determines distinct gene methylation and expression profiles in IDH-mutated oligodendroglial tumors.
- Published in:
- Acta Neuropathologica, 2013, v. 126, n. 2, p. 277, doi. 10.1007/s00401-013-1130-9
- By:
- Publication type:
- Article
Clinical Features and Molecular Characterization of a Patient With Muscle-Eye-Brain Disease: A Novel Mutation in the POMGNT1 Gene.
- Published in:
- Journal of Child Neurology, 2014, v. 29, n. 2, p. 289, doi. 10.1177/0883073813509119
- By:
- Publication type:
- Article
Phase II Trial of Palbociclib in Recurrent Retinoblastoma-Positive Anaplastic Oligodendroglioma: A Study from the Spanish Group for Research in Neuro-Oncology (GEINO).
- Published in:
- Targeted Oncology, 2020, v. 15, n. 5, p. 613, doi. 10.1007/s11523-020-00754-6
- By:
- Publication type:
- Article
Sexual-biased necroinflammation is revealed as a predictor of bevacizumab benefit in glioblastoma.
- Published in:
- Neuro-Oncology, 2024, v. 26, n. 7, p. 1213, doi. 10.1093/neuonc/noae033
- By:
- Publication type:
- Article
Mitotic count is prognostic in IDH mutant astrocytoma without homozygous deletion of CDKN2A/B. Results of consensus panel review of EORTC trial 26053 (CATNON) and EORTC trial 22033-26033.
- Published in:
- Neuro-Oncology, 2023, v. 25, n. 8, p. 1443, doi. 10.1093/neuonc/noac282
- By:
- Publication type:
- Article
Uncommon Clinical Presentation of Cryoglobulinemia Vasculitis Successfully Treated with Rituximab and Mycophenolate Mofetil.
- Published in:
- Indian Journal of Rheumatology, 2016, v. 11, n. 3, p. 45, doi. 10.4103/0973-3698.187416
- By:
- Publication type:
- Article