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Lack of C9orf72 expansion in 406 sporadic and familial cases of idiopathic dystonia in Japan.
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- Movement Disorders, 2015, v. 30, n. 10, p. 1430, doi. 10.1002/mds.26310
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- Publication type:
- Article
DYT6 in Japan-genetic screening and clinical characteristics of the patients.
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- Movement Disorders, 2014, v. 29, n. 2, p. 278, doi. 10.1002/mds.25745
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- Publication type:
- Article
Oromandibular dystonia associated with SCA36.
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- Movement Disorders, 2013, v. 28, n. 4, p. 558, doi. 10.1002/mds.25304
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- Publication type:
- Article
Broad spectrum of dystonia associated with a novel thanatosis-associated protein domain-containing apoptosis-associated protein 1 mutation in a Japanese family with dystonia 6, torsion.
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- Movement Disorders, 2012, v. 27, n. 10, p. 1324, doi. 10.1002/mds.25106
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- Publication type:
- Article
Generalized dystonia in a patient with a novel mutation in the GLUD1 gene.
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- Movement Disorders, 2012, v. 27, n. 9, p. 1198, doi. 10.1002/mds.25081
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- Publication type:
- Article
The clinical characteristics of spinocerebellar ataxia 36: A study of 2121 Japanese ataxia patients.
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- Movement Disorders, 2012, v. 27, n. 9, p. 1158, doi. 10.1002/mds.25092
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- Publication type:
- Article
Neuropsychiatric systemic lupus erythematosus with cerebellar vasculitis and obstructive hydrocephalus requiring decompressive craniectomy.
- Published in:
- 2021
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- Publication type:
- Case Study
"Burnt‐out" progressive multifocal leukoencephalopathy in idiopathic CD4<sup>+</sup> lymphocytopenia.
- Published in:
- Neuropathology, 2021, v. 41, n. 6, p. 484, doi. 10.1111/neup.12773
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- Publication type:
- Article
An autopsy report of a familial amyotrophic lateral sclerosis case carrying VCP Arg487His mutation with a unique TDP‐43 proteinopathy.
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- Neuropathology, 2021, v. 41, n. 2, p. 118, doi. 10.1111/neup.12710
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- Publication type:
- Article
Extranodal NK/T-cell lymphoma, nasal type, manifesting as rapidly progressive dementia without any mass or enhancing brain lesion.
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- Neuropathology, 2016, v. 36, n. 5, p. 456, doi. 10.1111/neup.12285
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- Publication type:
- Article
Ataxia with vitamin E deficiency in the Philippines : A case report of two siblings.
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- Journal of Medical Investigation, 2021, v. 68, n. 3/4, p. 400, doi. 10.2152/jmi.68.400
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- Publication type:
- Article
The Relationship Between Dynamic Balance Ability and Shoulder Pain in High School Baseball Pitchers.
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- Sports Health: A Multidisciplinary Approach, 2022, v. 14, n. 3, p. 397, doi. 10.1177/19417381211019682
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- Publication type:
- Article
Infective Endocarditis from Furuncle with Meningitis Complication Caused by Methicillin-resistant Staphylococcus aureus.
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- Internal Medicine, 2021, v. 60, n. 21, p. 3251, doi. 10.2169/internalmedicine.6902-20
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- Publication type:
- Article
Infective Endocarditis from Furuncle with Meningitis Complication Caused by Methicillin-resistant Staphylococcus aureus.
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- Internal Medicine, 2021, v. 60, n. 20, p. 3251, doi. 10.2169/internalmedicine.6902-20
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- Publication type:
- Article
White Blood Cell and Neutrophil Counts and Response to Intravenous Immunoglobulin in Kawasaki Disease.
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- Global Pediatric Health, 2019, v. 6, p. 1, doi. 10.1177/2333794X19884826
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- Publication type:
- Article
White Blood Cell and Neutrophil Counts and Response to Intravenous Immunoglobulin in Kawasaki Disease.
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- Global Pediatric Health, 2019, v. 6, p. N.PAG, doi. 10.1177/2333794X19884826
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- Publication type:
- Article
Multiple Magnets Ingestion Followed by Intestinal Fistula With Mild Symptoms.
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- Global Pediatric Health, 2019, v. 6, p. 1, doi. 10.1177/2333794X19855805
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- Publication type:
- Article
Multiple Magnets Ingestion Followed by Intestinal Fistula With Mild Symptoms.
- Published in:
- Global Pediatric Health, 2019, v. 6, p. N.PAG, doi. 10.1177/2333794X19855805
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- Publication type:
- Article
Gait apraxia as a presenting sign of Gerstmann‐Sträussler‐Scheinker disease.
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- Neurology & Clinical Neuroscience, 2021, v. 9, n. 4, p. 339, doi. 10.1111/ncn3.12511
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- Publication type:
- Article
Efficacy of Istradefylline for the Treatment of ADCY5‐Related Disease.
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- Movement Disorders Clinical Practice, 2020, v. 7, n. 7, p. 852, doi. 10.1002/mdc3.13067
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- Publication type:
- Article
Treatment of Isolated Dystonia with Zolpidem.
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- Movement Disorders Clinical Practice, 2016, v. 3, n. 3, p. 309, doi. 10.1002/mdc3.12280
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- Publication type:
- Article
Asymptomatic Medial Elbow Ultrasound Abnormality in Youth Baseball Players Is an Independent Risk Factor for Elbow Injury.
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- Orthopaedic Journal of Sports Medicine, 2021, v. 9, n. 4, p. 1, doi. 10.1177/2325967120986791
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- Publication type:
- Article
A mutation in the low voltage-gated calcium channel CACNA1G alters the physiological properties of the channel, causing spinocerebellar ataxia.
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- Molecular Brain, 2015, v. 8, p. 1, doi. 10.1186/s13041-015-0180-4
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- Publication type:
- Article
Co-morbidity of progressive supranuclear palsy and amyotrophic lateral sclerosis: a clinical-pathological case report.
- Published in:
- 2019
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- Publication type:
- journal article
Deep Brain Stimulation for Dystonia - Pallidal stimulation and thalamic stimulation.
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- Stereotactic & Functional Neurosurgery, 2017, v. 95, p. 235
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- Publication type:
- Article
Deep Brain Stimulation of the Thalamic Ventral Lateral Anterior Nucleus for DYT6 Dystonia.
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- Stereotactic & Functional Neurosurgery, 2014, v. 92, n. 6, p. 393, doi. 10.1159/000365577
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- Publication type:
- Article
Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report.
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- BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-01002-4
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- Publication type:
- Article
Intermediate phenotype between CMT2Z and DIGFAN associated with a novel MORC2 variant: a case report.
- Published in:
- Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00287-8
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- Publication type:
- Article
The APOA1 p.Leu202Arg variant potentially causes autosomal recessive cardiac amyloidosis.
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- Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00288-7
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- Publication type:
- Article
Botulinum toxin injection attenuates nonodontogenic toothache: A case report.
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- Clinical Case Reports, 2022, v. 10, n. 2, p. 1, doi. 10.1002/ccr3.5494
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- Publication type:
- Article
Response to a letter to the editor by Dong et al.
- Published in:
- 2021
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- Publication type:
- letter
A nationwide questionnaire survey on accidental magnet ingestion in children in Japan.
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- Acta Paediatrica, 2021, v. 110, n. 1, p. 314, doi. 10.1111/apa.15428
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- Publication type:
- Article
Gastric cancer in children and adolescents in Japan.
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- Pediatrics International, 2019, v. 61, n. 1, p. 80, doi. 10.1111/ped.13720
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- Publication type:
- Article
Can Pallidal Deep Brain Stimulation Rescue Borderline Dystonia? Possible Coexistence of Functional (Psychogenic) and Organic Components.
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- Brain Sciences (2076-3425), 2020, v. 10, n. 9, p. 636, doi. 10.3390/brainsci10090636
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- Publication type:
- Article
Truncal dystonia with isolated middle cerebral artery ischemia: A case report of revascularization therapy for dystonia.
- Published in:
- 2022
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- Publication type:
- Case Study
Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient.
- Published in:
- BMC Neurology, 2014, v. 14, n. 1, p. 1, doi. 10.1186/1471-2377-14-5
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- Publication type:
- Article
Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient.
- Published in:
- 2014
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- Publication type:
- journal article
A novel COL4A1 variant associated with recurrent epistaxis and glioblastoma.
- Published in:
- Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00150-0
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- Publication type:
- Article
Efficacy and Safety of Ultrahigh-Dose Methylcobalamin in Early-Stage Amyotrophic Lateral Sclerosis: A Randomized Clinical Trial.
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- JAMA Neurology, 2022, v. 79, n. 6, p. 575, doi. 10.1001/jamaneurol.2022.0901
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- Publication type:
- Article
Insulin-like growth factor-1 level is a poor diagnostic indicator of growth hormone deficiency.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-95632-0
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- Publication type:
- Article
Risk factor for elbow symptom manifestation in young baseball players with asymptomatic medial elbow abnormalities: a prospective cohort study.
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- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-92570-9
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- Publication type:
- Article
An analysis of pre-season risk factors for low back injury in high-school baseball pitchers: a prospective study.
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- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-90988-9
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- Publication type:
- Article
Ankle dorsiflexion deficit in the back leg is a risk factor for shoulder and elbow injuries in young baseball players.
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- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-85079-8
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- Publication type:
- Article
Factors affecting the onset and progression of rotator cuff tears in the general population.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-020-79867-x
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- Publication type:
- Article
Relationship between tightness of the hip joint and shoulder/elbow injury in high school baseball pitchers: a prospective study.
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- Scientific Reports, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41598-020-76894-6
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- Publication type:
- Article
Neonatal intrahepatic cholestasis caused by citrin deficiency with no hepatic steatosis: a case report.
- Published in:
- 2021
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- Publication type:
- journal article
Relationship between the Lower Limb Function and Shoulder and Elbow Injuries in Elementary School Baseball Pitchers.
- Published in:
- Progress in Rehabilitation Medicine, 2021, v. 6, p. 1, doi. 10.2490/prm.20210015
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- Publication type:
- Article
Serum Pepsinogen Values in Japanese Junior High School Students With Reference to Helicobacter Pylori Infection.
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- Journal of Epidemiology, 2020, v. 30, n. 1, p. 30, doi. 10.2188/jea.JE20180119
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- Publication type:
- Article
Compound heterozygote mutations in the SIGMAR1 gene in an oldest‐old patient with amyotrophic lateral sclerosis.
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- Geriatrics & Gerontology International, 2018, v. 18, n. 10, p. 1519, doi. 10.1111/ggi.13506
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- Publication type:
- Article
An Exploratory Trial of EPI-589 in Amyotrophic Lateral Sclerosis (EPIC-ALS): Protocol for a Multicenter, Open-Labeled, 24-Week, Single-Group Study.
- Published in:
- JMIR Research Protocols, 2023, v. 12, n. 1, p. 819, doi. 10.2196/42032
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- Publication type:
- Article