Found: 24
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Dopa-Responsive Parkinsonism in a Patient With Homozygous RFC1 Expansions.
- Published in:
- 2020
- By:
- Publication type:
- letter
RFC1 Intronic Repeat Expansions Absent in Pathologically Confirmed Multiple Systems Atrophy.
- Published in:
- 2020
- By:
- Publication type:
- letter
High Prevalence and Gender-Related Differences of Gastrointestinal Manifestations in a Cohort of DM1 Patients: A Perspective, Cross-Sectional Study.
- Published in:
- Frontiers in Neurology, 2020, v. 11, p. 1, doi. 10.3389/fneur.2020.00394
- By:
- Publication type:
- Article
Neurological Erdheim–Chester Disease Manifesting with Subacute or Progressive Cerebellar Ataxia: Novel Case Series and Review of the Literature.
- Published in:
- Brain Sciences (2076-3425), 2023, v. 13, n. 1, p. 26, doi. 10.3390/brainsci13010026
- By:
- Publication type:
- Article
Application of a Clinical Workflow May Lead to Increased Diagnostic Precision in Hereditary Spastic Paraplegias and Cerebellar Ataxias: A Single Center Experience.
- Published in:
- Brain Sciences (2076-3425), 2021, v. 11, n. 2, p. 246, doi. 10.3390/brainsci11020246
- By:
- Publication type:
- Article
Pathological Findings in Chronic Inflammatory Demyelinating Polyradiculoneuropathy: A Single-Center Experience.
- Published in:
- Brain Sciences (2076-3425), 2020, v. 10, n. 6, p. 383, doi. 10.3390/brainsci10060383
- By:
- Publication type:
- Article
Trypanosoma cruzi Necrotizing Meningoencephalitis in a Venezuelan HIV<sup>+</sup> -AIDS Patient: Pathological Diagnosis Confirmed by PCR Using Formalin-Fixed- and Paraffin-Embedded-Tissues.
- Published in:
- Analytical Cellular Pathology: Cellular Oncology, 2014, v. 2014, p. 1, doi. 10.1155/2014/124795
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- Publication type:
- Article
Trypanosoma vivax Adhesion to Red Blood Cells in Experimentally Infected Sheep.
- Published in:
- Pathology Research International, 2016, p. 1, doi. 10.1155/2016/4503214
- By:
- Publication type:
- Article
Muscle magnetic resonance imaging in myotonic dystrophy type 1 (DM1): Refining muscle involvement and implications for clinical trials.
- Published in:
- European Journal of Neurology, 2022, v. 29, n. 3, p. 843, doi. 10.1111/ene.15174
- By:
- Publication type:
- Article
A next generation sequencing‐based analysis of a large cohort of ataxic patients refines the clinical spectrum associated with spinocerebellar ataxia 21.
- Published in:
- European Journal of Neurology, 2021, v. 28, n. 8, p. 2784, doi. 10.1111/ene.14868
- By:
- Publication type:
- Article
Neurofilament light chain as a disease severity biomarker in ATTRv: data from a single-centre experience.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Acute upward gaze palsy: Not always Parinaud syndrome.
- Published in:
- European Journal of Ophthalmology, 2020, v. 30, n. 6, p. NP5, doi. 10.1177/1120672119855845
- By:
- Publication type:
- Article
Society and net economy.
- Published in:
- Sociologia del Lavoro, 2005, n. 98, p. 40
- By:
- Publication type:
- Article
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease.
- Published in:
- Brain: A Journal of Neurology, 2024, v. 147, n. 5, p. 1887, doi. 10.1093/brain/awad436
- By:
- Publication type:
- Article
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Spinocerebellar ataxia 27B: a frequent and slowly progressive autosomal-dominant cerebellar ataxia—experience from an Italian cohort.
- Published in:
- Journal of Neurology, 2024, v. 271, n. 8, p. 5478, doi. 10.1007/s00415-024-12506-x
- By:
- Publication type:
- Article
Elevated serum Neurofilament Light chain (NfL) as a potential biomarker of neurological involvement in Myotonic Dystrophy type 1 (DM1).
- Published in:
- Journal of Neurology, 2022, v. 269, n. 9, p. 5085, doi. 10.1007/s00415-022-11165-0
- By:
- Publication type:
- Article
Clarification on Uveal Melanoma Associated With Myotonic Dystrophy.
- Published in:
- 2018
- By:
- Publication type:
- letter
Dysautonomia as Onset Symptom of Myotonic Dystrophy Type 2.
- Published in:
- European Neurology, 2018, v. 79, n. 3/4, p. 166, doi. 10.1159/000487508
- By:
- Publication type:
- Article
Hereditary spastic paraparesis type 46 (SPG46): new GBA2 variants in a large Italian case series and review of the literature.
- Published in:
- Neurogenetics, 2024, v. 25, n. 2, p. 51, doi. 10.1007/s10048-024-00749-9
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- Publication type:
- Article
Power of NGS-based tests in HSP diagnosis: analysis of massively parallel sequencing in clinical practice.
- Published in:
- Neurogenetics, 2023, v. 24, n. 3, p. 147, doi. 10.1007/s10048-023-00717-9
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- Publication type:
- Article
Compound heterozygosity for an expanded (GAA) and a (GAAGGA) repeat at FXN locus: from a diagnostic pitfall to potential clues to the pathogenesis of Friedreich ataxia.
- Published in:
- Neurogenetics, 2020, v. 21, n. 4, p. 279, doi. 10.1007/s10048-020-00620-7
- By:
- Publication type:
- Article
Triple Genetic Diagnosis in a Patient with Late-Onset Leukodystrophy and Mild Intellectual Disability.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 1, p. 495, doi. 10.3390/ijms25010495
- By:
- Publication type:
- Article
Fluid Biomarkers of Central Nervous System (CNS) Involvement in Myotonic Dystrophy Type 1 (DM1).
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 3, p. 2204, doi. 10.3390/ijms24032204
- By:
- Publication type:
- Article