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Rationale and Design of the Orencia Atherosclerosis and Rheumatoid Arthritis Study (ORACLE Arthritis Study): Implications of Biologics against Rheumatoid Arthritis and the Vascular Complications, Subclinical Atherosclerosis.
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- Methods & Protocols, 2021, v. 4, n. 4, p. 83, doi. 10.3390/mps4040083
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- Article
Biallelic expansion in RFC1 as a rare cause of Parkinson's disease.
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- NPJ Parkinson's Disease, 2022, v. 8, n. 1, p. 1, doi. 10.1038/s41531-021-00275-7
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- Article
Crowned dens syndrome mimicking meningitis: Report of two cases.
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- Neurology & Clinical Neuroscience, 2017, v. 5, n. 1, p. 39, doi. 10.1111/ncn3.12101
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- Article
A Case of McLeod Syndrome with A Novel XK Missense Mutation.
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- 2018
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- Publication type:
- Case Study
Ultrasonographic evaluation reveals thinning of cervical nerve roots and peripheral nerves in spinal and bulbar muscular atrophy.
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- 2022
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- Publication type:
- journal article
Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions.
- Published in:
- Acta Neuropathologica Communications, 2022, v. 10, n. 1, p. 1, doi. 10.1186/s40478-022-01333-8
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- Publication type:
- Article
CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestations.
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- Acta Neuropathologica Communications, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1186/s40478-020-01084-4
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- Publication type:
- Article
Risk factors for radiation pneumonitis after rotating gantry intensity-modulated radiation therapy for lung cancer.
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- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-021-04601-0
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- Publication type:
- Article
Non-traumatic Acute Epidural Hematoma in Multiple Sclerosis Treated With Fingolimod.
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- Frontiers in Neurology, 2019, p. 1, doi. 10.3389/fneur.2019.00763
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- Article
Repeat conformation heterogeneity in cerebellar ataxia, neuropathy, vestibular areflexia syndrome.
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- 2022
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- Publication type:
- journal article
Erratum to: Complete sequencing of expanded SAMD12 repeats by long-read sequencing and Cas9-mediated enrichment.
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- 2021
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- Publication type:
- corrected article
Complete sequencing of expanded SAMD12 repeats by long-read sequencing and Cas9-mediated enrichment.
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- 2021
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- Publication type:
- journal article
CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia.
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- Epilepsia (Series 4), 2012, v. 53, n. 8, p. 1441, doi. 10.1111/j.1528-1167.2012.03548.x
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- Publication type:
- Article
An Isoform of Nedd4-2 Plays a Pivotal Role in Electrophysiological Cardiac Abnormalities.
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- International Journal of Molecular Sciences, 2017, v. 18, n. 6, p. 1268, doi. 10.3390/ijms18061268
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- Publication type:
- Article
Eplerenone-Resistant Salt-Sensitive Hypertension in Nedd4-2 C2 KO Mice.
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- International Journal of Molecular Sciences, 2017, v. 18, n. 6, p. 1250, doi. 10.3390/ijms18061250
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- Publication type:
- Article
Microtubule Formation and Activities of Antioxidative Enzymes in PC12 Cells Exposed to Phosphatidylcholine Hydroperoxides.
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- International Journal of Molecular Sciences, 2012, v. 13, n. 12, p. 15510, doi. 10.3390/ijms131215510
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- Publication type:
- Article
Molecular epidemiology of hereditary ataxia in Finland.
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- 2021
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- Publication type:
- journal article
Usefulness of rapid MR angiography using two-point Dixon for evaluating carotid and aortic plaques.
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- Neuroradiology, 2022, v. 64, n. 4, p. 693, doi. 10.1007/s00234-021-02812-w
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- Publication type:
- Article
Dose-volume Histogram Analysis of Knowledge-based Volumetric-modulated Arc Therapy Planning in Postoperative Breast Cancer Irradiation.
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- In Vivo, 2020, v. 34, n. 3, p. 1095, doi. 10.21873/invivo.11880
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- Publication type:
- Article
Severity by National Institute of Health Stroke Scale Score and Clinical Features of Stroke Patients with Patent Foramen Ovale Stroke and Atrial Fibrillation.
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- Journal of Clinical Medicine, 2021, v. 10, n. 2, p. 332, doi. 10.3390/jcm10020332
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- Publication type:
- Article
A Japanese Family of Spinocerebellar Ataxia Type 21: Clinical and Neuropathological Studies.
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- Cerebellum, 2018, v. 17, n. 5, p. 525, doi. 10.1007/s12311-018-0941-6
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- Publication type:
- Article
The diagnostic utility of exome sequencing in Joubert syndrome and related disorders.
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- Journal of Human Genetics, 2015, v. 60, n. 10, p. 651, doi. 10.1038/jhg.2015.86
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- Publication type:
- Article
A Japanese case of cerebellar ataxia, spastic paraparesis and deep sensory impairment associated with a novel homozygous TTC19 mutation.
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- Journal of Human Genetics, 2015, v. 60, n. 4, p. 187, doi. 10.1038/jhg.2015.7
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- Publication type:
- Article
'Cortical cerebellar atrophy' dwindles away in the era of next-generation sequencing.
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- Journal of Human Genetics, 2014, v. 59, n. 10, p. 589, doi. 10.1038/jhg.2014.75
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- Publication type:
- Article
The diagnostic utility of exome sequencing in Joubert syndrome and related disorders.
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- Journal of Human Genetics, 2013, v. 58, n. 2, p. 113, doi. 10.1038/jhg.2012.117
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- Publication type:
- Article
Sibling cases of moyamoya disease having homozygous and heterozygous c.14576G>A variant in RNF213 showed varying clinical course and severity.
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- Journal of Human Genetics, 2012, v. 57, n. 12, p. 804, doi. 10.1038/jhg.2012.105
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- Publication type:
- Article
A family of oculofaciocardiodental syndrome (OFCD) with a novel BCOR mutation and genomic rearrangements involving NHS.
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- Journal of Human Genetics, 2012, v. 57, n. 3, p. 197, doi. 10.1038/jhg.2012.4
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- Publication type:
- Article
Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features.
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- Journal of Human Genetics, 2012, v. 57, n. 3, p. 207, doi. 10.1038/jhg.2012.7
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- Publication type:
- Article
Breakpoint determination of X;autosome balanced translocations in four patients with premature ovarian failure.
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- Journal of Human Genetics, 2011, v. 56, n. 2, p. 156, doi. 10.1038/jhg.2010.155
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- Publication type:
- Article
De novo 19q13.42 duplications involving NLRP gene cluster in a patient with systemic-onset juvenile idiopathic arthritis.
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- Journal of Human Genetics, 2011, v. 56, n. 5, p. 343, doi. 10.1038/jhg.2011.16
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- Publication type:
- Article
Intracellular localization and splicing regulation of FUS/TLS are variably affected by amyotrophic lateral sclerosis-linked mutations.
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- Nucleic Acids Research, 2011, v. 39, n. 7, p. 2781, doi. 10.1093/nar/gkq1162
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- Publication type:
- Article
Patterns of Local Recurrence and Oncologic Outcomes in T3 Low Rectal Cancer (≤5 cm from the Anal Verge) Treated With Short-Course Radiotherapy With Delayed Surgery.
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- Annals of Surgical Oncology: An Oncology Journal for Surgeons, 2017, v. 24, n. 1, p. 219, doi. 10.1245/s10434-016-5604-6
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- Publication type:
- Article
Whole-exome sequencing identified a homozygous FNBP4 mutation in a family with a condition similar to microphthalmia with limb anomalies.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1543, doi. 10.1002/ajmg.a.35983
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- Publication type:
- Article
Early infantile epileptic encephalopathy associated with the disrupted gene encoding Slit-Robo Rho GTPase activating protein 2 ( SRGAP2).
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 1, p. 199, doi. 10.1002/ajmg.a.34363
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- Publication type:
- Article
De novo 5q14.3 translocation 121.5-kb upstream of MEF2C in a patient with severe intellectual disability and early-onset epileptic encephalopathy.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2879, doi. 10.1002/ajmg.a.34289
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- Publication type:
- Article
Sensory Ataxic Guillain-Barré Syndrome with Dysgeusia after mRNA COVID-19 Vaccination.
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- Internal Medicine, 2022, v. 61, n. 11, p. 1757, doi. 10.2169/internalmedicine.8967-21
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- Publication type:
- Article
Trehalose alleviates polyglutamine-mediated pathology in a mouse model of Huntington disease.
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- Nature Medicine, 2004, v. 10, n. 2, p. 148, doi. 10.1038/nm985
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- Publication type:
- Article
Arterial chemoradiotherapy for carcinomas of the external auditory canal and middle ear.
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- Laryngoscope, 2015, v. 125, n. 3, p. 685, doi. 10.1002/lary.24908
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- Publication type:
- Article
Couch modeling optimization for tomotherapy planning and delivery.
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- Journal of Applied Clinical Medical Physics, 2019, v. 20, n. 8, p. 114, doi. 10.1002/acm2.12686
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- Publication type:
- Article
Clinical course of longer than five years after definitive radiotherapy for nasopharyngeal carcinoma.
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- International Journal of Clinical Oncology, 2023, v. 28, n. 12, p. 1607, doi. 10.1007/s10147-023-02418-7
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- Publication type:
- Article
Stereotactic body radiotherapy in patients with chronic obstructive pulmonary disease and interstitial pneumonia: a review.
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- International Journal of Clinical Oncology, 2019, v. 24, n. 8, p. 899, doi. 10.1007/s10147-019-01432-y
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- Publication type:
- Article
Correction: Successful surgical treatment for primary cardiac angiosarcoma: a case report.
- Published in:
- 2024
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- Publication type:
- Correction Notice
Lateral olfactory tract usher substance (LOTUS), an endogenous Nogo receptor antagonist, ameliorates disease progression in amyotrophic lateral sclerosis model mice.
- Published in:
- Cell Death Discovery, 2023, v. 9, n. 1, p. 1, doi. 10.1038/s41420-023-01758-7
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- Publication type:
- Article
FUS/TLS deficiency causes behavioral and pathological abnormalities distinct from amyotrophic lateral sclerosis.
- Published in:
- Acta Neuropathologica Communications, 2015, v. 3, n. 1, p. 1, doi. 10.1186/s40478-015-0202-6
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- Publication type:
- Article
Development of a Novel Prognostic Risk Classification System for Malignant Pleural Mesothelioma.
- Published in:
- 2020
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- Publication type:
- journal article
FUS/TLS acts as an aggregation-dependent modifier of polyglutamine disease model mice.
- Published in:
- Scientific Reports, 2016, p. 35236, doi. 10.1038/srep35236
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- Publication type:
- Article
Two cases of anaphylactic shock by methylprednisolone in neuromyelitis optica.
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- Multiple Sclerosis Journal, 2018, v. 24, n. 11, p. 1514, doi. 10.1177/1352458518763099
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- Publication type:
- Article
Case Report: Takotsubo Cardiomyopathy in Bickerstaff Brainstem Encephalitis Triggered by COVID-19.
- Published in:
- Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.822247
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- Publication type:
- Article
Dose difference between anisotropic analytical algorithm (AAA) and Acuros XB (AXB) caused by target's air content for volumetric modulated arc therapy of head and neck cancer.
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- Reports of Practical Oncology & Radiotherapy, 2023, v. 28, n. 3, p. 399, doi. 10.5603/RPOR.a2023.0032
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- Publication type:
- Article
Improved error detection using a divided treatment plan in volume modulated arc therapy.
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- Reports of Practical Oncology & Radiotherapy, 2019, v. 24, n. 2, p. 133, doi. 10.1016/j.rpor.2018.12.002
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- Publication type:
- Article