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Clinical whole Exome Sequencing Reveals Novel Homozygous Missense Variant in the PMPCA Gene causing Autosomal Recessive Spinocerebellar Ataxia.
- Published in:
- Pakistan Journal of Medical Sciences, 2024, v. 40, n. 10, p. 2243, doi. 10.12669/pjms.40.10.10474
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- Publication type:
- Article
Efficiency of a 3-week multicomponent rehabilitation on improving the function in a patient with Friedreich's ataxia - a case report.
- Published in:
- Vojnosanitetski Pregled: Military Medical & Pharmaceutical Journal of Serbia, 2023, v. 80, n. 2, p. 182, doi. 10.2298/VSP220209027S
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- Publication type:
- Article
Paraneoplastic neurological syndromes associated with ovarian tumors.
- Published in:
- Journal of Cancer Research & Clinical Oncology, 2015, v. 141, n. 1, p. 99, doi. 10.1007/s00432-014-1745-9
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- Publication type:
- Article
Analysis of ataxia-telangiectasia mutated (ATM)- and Nijmegen breakage syndrome (NBS)-regulated gene expression patterns.
- Published in:
- Journal of Cancer Research & Clinical Oncology, 2004, v. 130, n. 4, p. 225, doi. 10.1007/s00432-003-0522-y
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- Publication type:
- Article
Brainstem and cerebellar changes after cerebrovascular accidents: magnetic resonance imaging.
- Published in:
- 2006
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- Publication type:
- journal article
Acute colonic pseudo-obstruction after hysterectomy in a patient with Friedreich ataxia.
- Published in:
- 2014
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- Publication type:
- Case Study
Morphological and Metabolic Alteration of Cerebellum in Patients with Post-Stroke Depression.
- Published in:
- Cellular Physiology & Biochemistry (Karger AG), 2016, v. 40, n. 3/4, p. 420, doi. 10.1159/000452557
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- Publication type:
- Article
Vignette of a Child with Developmental Regression, Seizures, and Combined Disorders of Movement.
- Published in:
- Movement Disorders Clinical Practice, 2024, v. 11, n. 9, p. 1153, doi. 10.1002/mdc3.14127
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- Publication type:
- Article
A Novel Compound Heterozygous Mutation in Aprataxin Causes Slowly Progressive Ataxia without Oculomotor Apraxia.
- Published in:
- Movement Disorders Clinical Practice, 2024, v. 11, n. 9, p. 1156, doi. 10.1002/mdc3.14132
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- Publication type:
- Article
Exploring the Pathogenicity of SETX I1942T Variant in Ataxia with Oculomotor Apraxia Type 2 Through Segregation Analysis.
- Published in:
- Movement Disorders Clinical Practice, 2024, v. 11, n. 8, p. 1041, doi. 10.1002/mdc3.14128
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- Publication type:
- Article
Expanding the Phenotypic Variability of PMPCA‐Related Ataxia.
- Published in:
- Movement Disorders Clinical Practice, 2024, v. 11, n. 7, p. 894, doi. 10.1002/mdc3.14057
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- Publication type:
- Article
RFC1 and FGF14 Repeat Expansions in Serbian Patients with Cerebellar Ataxia.
- Published in:
- Movement Disorders Clinical Practice, 2024, v. 11, n. 6, p. 626, doi. 10.1002/mdc3.14020
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- Publication type:
- Article
Molecular Imaging in CANVAS: A Contribution for Differential Diagnosis?
- Published in:
- Movement Disorders Clinical Practice, 2024, v. 11, n. 7, p. 879, doi. 10.1002/mdc3.14041
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- Publication type:
- Article
Cranial Nerve Thinning Distinguishes RFC1‐Related Disorder from Other Late‐Onset Ataxias.
- Published in:
- Movement Disorders Clinical Practice, 2024, v. 11, n. 1, p. 45, doi. 10.1002/mdc3.13930
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- Publication type:
- Article
Focal Dystonic Tremor as a Prominent Feature in a Child with a CACNA1A‐Related Disorder.
- Published in:
- Movement Disorders Clinical Practice, 2023, v. 10, n. 10, p. 1554, doi. 10.1002/mdc3.13854
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- Publication type:
- Article
Autosomal Recessive Cerebellar Ataxias: New Acronyms, Old Eponyms, and the Butterfly Life Cycle.
- Published in:
- Movement Disorders Clinical Practice, 2023, v. 10, n. 9, p. 1297, doi. 10.1002/mdc3.13835
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- Publication type:
- Article
Ataxia due to a COQ8A Novel Variant in Primary Coenzyme Q10 Deficiency.
- Published in:
- Movement Disorders Clinical Practice, 2023, v. 10, p. S41, doi. 10.1002/mdc3.13781
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- Publication type:
- Article
Cockayne syndrome type 3 with dystonia‐ataxia and clicking blinks.
- Published in:
- Movement Disorders Clinical Practice, 2023, v. 10, p. S48, doi. 10.1002/mdc3.13778
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- Publication type:
- Article
ATP8A2‐Related Disorder: Beyond Cerebellar Ataxia.
- Published in:
- Movement Disorders Clinical Practice, 2023, v. 10, n. 8, p. 1215, doi. 10.1002/mdc3.13820
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- Publication type:
- Article
Cerebellar Ataxia without Deafness or Narcolepsy and the Hot Cross Bun Sign—an Unusual Ensemble in DNMT1 Mutation.
- Published in:
- Movement Disorders Clinical Practice, 2023, v. 10, n. 8, p. 1219, doi. 10.1002/mdc3.13791
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- Publication type:
- Article
Levodopa Responsive Dystonia Parkinsonism, Intellectual Disability, and Optic Atrophy Due to a Heterozygous Missense Variant in AFG3L2.
- Published in:
- Movement Disorders Clinical Practice, 2022, v. 9, p. S32, doi. 10.1002/mdc3.13538
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- Publication type:
- Article
Levodopa Responsive Dystonia Parkinsonism, Intellectual Disability, and Optic Atrophy Due to a Heterozygous Missense Variant in AFG3L2.
- Published in:
- Movement Disorders Clinical Practice, 2022, v. 9, p. S32, doi. 10.1002/mdc3.13538
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- Publication type:
- Article
A Novel Co‐existence of Spinocerebellar Ataxia 1 and Spinocerebellar Ataxia 2 Mutations in Indian Patients.
- Published in:
- Movement Disorders Clinical Practice, 2022, v. 9, n. 5, p. 688, doi. 10.1002/mdc3.13464
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- Publication type:
- Article
Oculomasticatory Myorhythmia, an Underrecognized Yet Key Finding for the Topographic and Etiological Diagnosis in Patients with Rhombencephalitis. Videographic Record of a Case.
- Published in:
- Movement Disorders Clinical Practice, 2021, v. 8, n. 8, p. 1258, doi. 10.1002/mdc3.13343
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- Publication type:
- Article
Periodic Alternating Gaze Deviation Due to Paraneoplastic Cerebellar Degeneration.
- Published in:
- Movement Disorders Clinical Practice, 2021, v. 8, n. 5, p. 791, doi. 10.1002/mdc3.13249
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- Publication type:
- Article
Laboratory‐Supported Multiple System Atrophy beyond Autonomic Function Testing and Imaging: A Systematic Review by the MoDiMSA Study Group.
- Published in:
- Movement Disorders Clinical Practice, 2021, v. 8, n. 3, p. 322, doi. 10.1002/mdc3.13158
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- Publication type:
- Article
Beyond Typical Ataxia Telangiectasia: How to Identify the Ataxia Telangiectasia‐Like Disorders.
- Published in:
- Movement Disorders Clinical Practice, 2021, v. 8, n. 1, p. 118, doi. 10.1002/mdc3.13110
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- Publication type:
- Article
Channelopathies Are a Frequent Cause of Genetic Ataxias Associated with Cerebellar Atrophy.
- Published in:
- Movement Disorders Clinical Practice, 2020, v. 7, n. 8, p. 940, doi. 10.1002/mdc3.13086
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- Publication type:
- Article
GTPase Regulator Associated with Focal Adhesion Kinase 1 (GRAF1) Immunoglobulin‐Associated Ataxia and Neuropathy.
- Published in:
- Movement Disorders Clinical Practice, 2020, v. 7, n. 8, p. 904, doi. 10.1002/mdc3.13036
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- Publication type:
- Article
Kinesigenic Triggers in Episodic Ataxia Type 1.
- Published in:
- Movement Disorders Clinical Practice, 2020, v. 7, n. 6, p. 723, doi. 10.1002/mdc3.13008
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- Publication type:
- Article
Some New and Unexpected Tauopathies in Movement Disorders.
- Published in:
- Movement Disorders Clinical Practice, 2020, v. 7, n. 6, p. 616, doi. 10.1002/mdc3.12995
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- Publication type:
- Article
Langerhans Cell Histiocytosis Presenting With Late‐Onset Sporadic Ataxia.
- Published in:
- Movement Disorders Clinical Practice, 2019, v. 6, n. 8, p. 716, doi. 10.1002/mdc3.12830
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- Publication type:
- Article
The Geographic Diversity of Spinocerebellar Ataxias (SCAs) in the Americas: A Systematic Review.
- Published in:
- Movement Disorders Clinical Practice, 2019, v. 6, n. 7, p. 531, doi. 10.1002/mdc3.12822
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- Publication type:
- Article
Sensitivity of Volumetric Magnetic Resonance Imaging and Magnetic Resonance Spectroscopy to Progression of Spinocerebellar Ataxia Type 1.
- Published in:
- Movement Disorders Clinical Practice, 2019, v. 6, n. 7, p. 549, doi. 10.1002/mdc3.12804
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- Publication type:
- Article
Subacute Cerebellar Degeneration as the First Manifestation of Sjögren's Syndrome.
- Published in:
- Movement Disorders Clinical Practice, 2017, v. 4, n. 4, p. 637, doi. 10.1002/mdc3.12487
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- Publication type:
- Article
SCA 6 with Writer's Cramp: The Phenotype Expanded.
- Published in:
- Movement Disorders Clinical Practice, 2016, v. 3, n. 1, p. 83, doi. 10.1002/mdc3.12222
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- Publication type:
- Article
Correction to: Cognitive dysfunction, social behavior disorder, cerebellar ataxia, and atypical brain FDG‑PET presentation in spinocerebellar ataxia 17: a case report.
- Published in:
- 2024
- By:
- Publication type:
- Correction Notice
Cognitive dysfunction, social behavior disorder, cerebellar ataxia, and atypical brain FDG-PET presentation in spinocerebellar ataxia 17: a case report.
- Published in:
- Neurological Sciences, 2024, v. 45, n. 6, p. 2877, doi. 10.1007/s10072-024-07453-4
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- Publication type:
- Article
A novel pathogenic variant in TDP2 causes spinocerebellar ataxia autosomal recessive 23 accompanied by pituitary tumor and hyperhidrosis: a case report.
- Published in:
- Neurological Sciences, 2024, v. 45, n. 6, p. 2881, doi. 10.1007/s10072-024-07397-9
- By:
- Publication type:
- Article
Cerebellar ataxia and primary Sjogren's syndrome without cerebellar degeneration: a case report.
- Published in:
- Neurological Sciences, 2024, v. 45, n. 6, p. 2919, doi. 10.1007/s10072-024-07333-x
- By:
- Publication type:
- Article
Autosomal recessive spino-cerebellar ataxia type 10 (SCAR10): clinical presentation associated with c.289delA ANO10 gene variant.
- Published in:
- Neurological Sciences, 2024, v. 45, n. 3, p. 1283, doi. 10.1007/s10072-023-07104-0
- By:
- Publication type:
- Article
Prominent lower motor neuron involvement in patients with intermediate-length CAG repeats in ATXN3 gene.
- Published in:
- 2022
- By:
- Publication type:
- Letter
Fluctuating ataxia caused by mitochondrial tRNA (Lys) gene m.8363G > A variant.
- Published in:
- Neurological Sciences, 2022, v. 43, n. 11, p. 6589, doi. 10.1007/s10072-022-06246-x
- By:
- Publication type:
- Article
Small nerves are a distinguishing feature of spinal and bulbar muscular atrophy (SBMA).
- Published in:
- 2022
- By:
- Publication type:
- Letter
Expanding the spectrum of SOX1-antibodies in neuropathy: the coexistence of anti-SOX1 and Guillain-Barré syndrome-a case report.
- Published in:
- 2022
- By:
- Publication type:
- journal article
A case series of two post-infectious acute cerebellitis an insidious path to the diagnosis and therapy.
- Published in:
- 2021
- By:
- Publication type:
- Letter
Correction to: Paraneoplastic cerebellar degeneration as a presenting manifestation of non-Hodgkin's lymphoma.
- Published in:
- 2021
- By:
- Publication type:
- corrected article
Paraneoplastic cerebellar degeneration as a presenting manifestation of non-Hodgkin's lymphoma.
- Published in:
- Neurological Sciences, 2021, v. 42, n. 6, p. 2523, doi. 10.1007/s10072-021-05046-z
- By:
- Publication type:
- Article
Spinocerebellar ataxia type 48: last but not least.
- Published in:
- 2021
- By:
- Publication type:
- Letter
Spinocerebellar ataxia type 48: last but not least.
- Published in:
- 2021
- By:
- Publication type:
- Letter