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  1. Article ; Online: A subtle presentation of a treatable cause of predominant hemidystonia with minimal ataxia: Expert commentary.

    Teive, Hélio A G

    Parkinsonism & related disorders

    2023  Volume 107, Page(s) 105275

    MeSH term(s) Humans ; Dystonia/etiology ; Ataxia/diagnosis ; Ataxia/etiology ; Cerebellar Ataxia/complications ; Dystonic Disorders/complications
    Language English
    Publishing date 2023-01-05
    Publishing country England
    Document type Journal Article
    ZDB-ID 1311489-x
    ISSN 1873-5126 ; 1353-8020
    ISSN (online) 1873-5126
    ISSN 1353-8020
    DOI 10.1016/j.parkreldis.2022.105275
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: New Horizons on the Diagnosis of Hereditary Ataxia.

    Novis, Luiz Eduardo / Raskin, Salmo / Teive, Helio A G

    Movement disorders clinical practice

    2023  Volume 10, Issue 11, Page(s) 1597–1598

    Language English
    Publishing date 2023-09-08
    Publishing country United States
    Document type Journal Article
    ISSN 2330-1619
    ISSN (online) 2330-1619
    DOI 10.1002/mdc3.13877
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Brazilian Academy of Neurology: 60 Years.

    Massaro, Ayrton / Teive, Hélio A G / Caramelli, Paulo

    Arquivos de neuro-psiquiatria

    2022  Volume 80, Issue 12, Page(s) 1187–1188

    Title translation Academia Brasileira de Neurologia: 60 anos.
    MeSH term(s) Humans ; Brazil ; Neurology ; Academies and Institutes
    Language English
    Publishing date 2022-12-29
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 418916-4
    ISSN 1678-4227 ; 0004-282X
    ISSN (online) 1678-4227
    ISSN 0004-282X
    DOI 10.1055/s-0042-1760108
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  4. Article ; Online: Jaw-Opening Dystonia Associated With Spinocerebellar Ataxia Type 48.

    Froehner, Gabriel S / Franklin, Gustavo L / Meira, Alex T / Teive, Hélio A G

    Neurology

    2023  Volume 101, Issue 17, Page(s) 764–765

    MeSH term(s) Humans ; Dystonia/complications ; Dystonia/genetics ; Spinocerebellar Ataxias/complications ; Spinocerebellar Ataxias/diagnostic imaging ; Spinocerebellar Ataxias/genetics ; Disease Progression
    Language English
    Publishing date 2023-07-25
    Publishing country United States
    Document type Journal Article
    ZDB-ID 207147-2
    ISSN 1526-632X ; 0028-3878
    ISSN (online) 1526-632X
    ISSN 0028-3878
    DOI 10.1212/WNL.0000000000207506
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    Zs.MO 374: Show issues

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  5. Article ; Online: Nobel and Charcot in Paris: A Brazilian Connection?

    Camargo, Carlos Henrique F / Teive, Hélio A G

    European neurology

    2021  Volume 84, Issue 2, Page(s) 132–134

    MeSH term(s) Brazil ; Humans ; Neurology ; Paris
    Language English
    Publishing date 2021-03-17
    Publishing country Switzerland
    Document type Letter ; Comment
    ZDB-ID 209426-5
    ISSN 1421-9913 ; 0014-3022
    ISSN (online) 1421-9913
    ISSN 0014-3022
    DOI 10.1159/000514245
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  6. Article ; Online: It Is Time to Define Huntington's Disease Onset more Clearly.

    Franklin, Gustavo L / Ferreira, Carlos Henrique / Teive, Hélio A G

    Movement disorders clinical practice

    2021  Volume 8, Issue 3, Page(s) 493–494

    Language English
    Publishing date 2021-03-08
    Publishing country United States
    Document type Journal Article
    ISSN 2330-1619
    ISSN (online) 2330-1619
    DOI 10.1002/mdc3.13174
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  7. Article ; Online: Charcot's Anglophilia.

    Coutinho, Léo / Walusinski, Olivier / Lees, Andrew J / Teive, Hélio A G

    European neurology

    2022  Volume 85, Issue 4, Page(s) 328–332

    Abstract: Jean-Martin Charcot was one of the most influential physicians of the nineteenth century and is now rightly considered the father of Neurology. The aim of this paper was to review and describe Charcot's close relationships to Britain and the influence of ...

    Abstract Jean-Martin Charcot was one of the most influential physicians of the nineteenth century and is now rightly considered the father of Neurology. The aim of this paper was to review and describe Charcot's close relationships to Britain and the influence of this particular affinity on his career.
    MeSH term(s) France ; History, 19th Century ; Humans ; Neurology/history ; Physicians/history
    Language English
    Publishing date 2022-03-02
    Publishing country Switzerland
    Document type Historical Article ; Journal Article
    ZDB-ID 209426-5
    ISSN 1421-9913 ; 0014-3022
    ISSN (online) 1421-9913
    ISSN 0014-3022
    DOI 10.1159/000522188
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  8. Article ; Online: The history behind ALS type 8: from the first phenotype description to the discovery of VAPB mutation.

    Novis, Luiz Eduardo / Spitz, Mariana / Teive, Hélio A G

    Arquivos de neuro-psiquiatria

    2021  Volume 79, Issue 8, Page(s) 743–747

    Abstract: Over the past 68 years, the Finkel type late-onset adult autosomal dominant spinal muscular atrophy (SMA) that is allelic with amyotrophic lateral sclerosis-8 (ALS8) gained a genotype-phenotype correlation among the motor neuron diseases through the work ...

    Abstract Over the past 68 years, the Finkel type late-onset adult autosomal dominant spinal muscular atrophy (SMA) that is allelic with amyotrophic lateral sclerosis-8 (ALS8) gained a genotype-phenotype correlation among the motor neuron diseases through the work of groups led by Zatz and Marques Jr.
    MeSH term(s) Amyotrophic Lateral Sclerosis/genetics ; Humans ; Muscular Atrophy, Spinal/genetics ; Mutation ; Phenotype ; Vesicular Transport Proteins/genetics
    Chemical Substances VAPB protein, human ; Vesicular Transport Proteins
    Language English
    Publishing date 2021-06-16
    Publishing country Brazil
    Document type Journal Article
    ZDB-ID 418916-4
    ISSN 1678-4227 ; 0004-282X
    ISSN (online) 1678-4227
    ISSN 0004-282X
    DOI 10.1590/0004-282X-ANP-2020-0548
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  9. Article ; Online: Cerebellar ataxia associated with anti-glutamic acid decarboxylase (anti-GAD) autoantibodies: a rare and puzzling disease.

    Teive, Hélio A G

    Arquivos de neuro-psiquiatria

    2017  Volume 75, Issue 3, Page(s) 137–138

    MeSH term(s) Autoantibodies ; Cerebellar Ataxia ; Diabetes Mellitus, Type 1 ; Glutamate Decarboxylase ; Humans ; Stiff-Person Syndrome
    Chemical Substances Autoantibodies ; Glutamate Decarboxylase (EC 4.1.1.15)
    Language English
    Publishing date 2017-03-28
    Publishing country Brazil
    Document type Editorial ; Comment
    ZDB-ID 418916-4
    ISSN 1678-4227 ; 0004-282X
    ISSN (online) 1678-4227
    ISSN 0004-282X
    DOI 10.1590/0004-282X20170020
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  10. Article ; Online: Diagnostic Yield of NGS Tests for Hereditary Ataxia: a Systematic Review.

    Tenorio, Renata Barreto / Camargo, Carlos Henrique F / Donis, Karina Carvalho / Almeida, Claudia Choma Bettega / Teive, Hélio A G

    Cerebellum (London, England)

    2023  

    Abstract: Next-generation sequencing (NGS), comprising targeted panels (TP), exome sequencing (ES), and genome sequencing (GS) became robust clinical tools for diagnosing hereditary ataxia (HA). Determining their diagnostic yield (DY) is crucial for optimal ... ...

    Abstract Next-generation sequencing (NGS), comprising targeted panels (TP), exome sequencing (ES), and genome sequencing (GS) became robust clinical tools for diagnosing hereditary ataxia (HA). Determining their diagnostic yield (DY) is crucial for optimal clinical decision-making. We conducted a comprehensive systematic literature review on the DY of NGS tests for HA. We searched PubMed and Embase databases for relevant studies between 2016 and 2022 and manually examined reference lists of relevant reviews. Eligible studies described the DY of NGS tests in patients with ataxia as a significant feature. Data from 33 eligible studies showed a median DY of 43% (IQR = 9.5-100%). The median DY for TP and ES was 46% and 41.9%, respectively. Higher DY was associated with specific phenotype selection, such as episodic ataxia at 68.35% and early and late onset of ataxia at 46.4% and 54.4%. Parental consanguinity had a DY of 52.4% (p = 0.009), and the presumed autosomal recessive (AR) inheritance pattern showed 62.5%. There was a difference between the median DY of studies that performed targeted sequencing (tandem repeat expansion, TRE) screening and those that did not (p = 0.047). A weak inverse correlation was found between DY and the extent of previous genetic investigation (rho = - 0.323; p = 0.065). The most common genes were CACNA1A and SACS. DY was higher for presumed AR inheritance pattern, positive family history, and parental consanguinity. ES appears more advantageous due to the inclusion of rare genes that might be excluded in TP.
    Language English
    Publishing date 2023-11-11
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 2112586-7
    ISSN 1473-4230 ; 1473-4222
    ISSN (online) 1473-4230
    ISSN 1473-4222
    DOI 10.1007/s12311-023-01629-y
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