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PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Retinal Architecture in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): Insights into Disease Pathogenesis and Biomarkers.
- Published in:
- 2021
- By:
- Publication type:
- journal article
SPG11-related parkinsonism: Clinical profile, molecular imaging and l-dopa response.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Analysis of eigenmodes in a relativistic gas.
- Published in:
- Continuum Mechanics & Thermodynamics, 2012, v. 24, n. 4-6, p. 719, doi. 10.1007/s00161-011-0210-0
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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
SPG15: A Rare Correlation with Atypical Juvenile Parkinsonism Responsive to Levodopa.
- Published in:
- Movement Disorders Clinical Practice, 2020, v. 7, n. 7, p. 842, doi. 10.1002/mdc3.13027
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- Publication type:
- Article
Innovative tracking, active search and follow-up strategies for new leprosy cases in the female prison population.
- Published in:
- PLoS Neglected Tropical Diseases, 2021, v. 15, n. 8, p. 1, doi. 10.1371/journal.pntd.0009716
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- Publication type:
- Article
Leprosy in a prison population: A new active search strategy and a prospective clinical analysis.
- Published in:
- PLoS Neglected Tropical Diseases, 2020, v. 14, n. 12, p. 1, doi. 10.1371/journal.pntd.0008917
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- Publication type:
- Article
Primary neural leprosy: clinical, neurophysiological and pathological presentation and progression.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Prevalence and Diagnostic Journey of Friedreich's Ataxia in the State of São Paulo, Brazil.
- Published in:
- Cerebellum, 2024, v. 23, n. 5, p. 1916, doi. 10.1007/s12311-024-01687-w
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- Publication type:
- Article
Genetic Epidemiology and Clinical Characteristics of Patients with Spinocerebellar Ataxias in an Unexplored Brazilian State, Using Strategies for Resource-Limited Settings.
- Published in:
- Cerebellum, 2024, v. 23, n. 2, p. 609, doi. 10.1007/s12311-023-01581-x
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- Publication type:
- Article
Voxel-Based Morphometry and Relaxometry Demonstrate Macro- and Microstructural Damages in Spinocerebellar Ataxia Type 3.
- Published in:
- Cerebellum, 2023, v. 22, n. 5, p. 818, doi. 10.1007/s12311-022-01452-x
- By:
- Publication type:
- Article
An Exploratory Survey on the Care for Ataxic Patients in the American Continents and the Caribbean.
- Published in:
- Cerebellum, 2023, v. 22, n. 4, p. 708, doi. 10.1007/s12311-022-01442-z
- By:
- Publication type:
- Article
Small-Expanded Allele Spinocerebellar Ataxia Type 17 Leading to Broad Movement Disorder Phenotype in a Brazilian Patient.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Diagnostic Yield of Whole Exome Sequencing for Adults with Ataxia: a Brazilian Perspective.
- Published in:
- Cerebellum, 2022, v. 21, n. 1, p. 49, doi. 10.1007/s12311-021-01268-1
- By:
- Publication type:
- Article
Which Factors in Spinocerebellar Ataxia Type 3 Patients Are Associated with Restless Legs Syndrome/Willis-Ekbom Disease?
- Published in:
- Cerebellum, 2021, v. 20, n. 1, p. 21, doi. 10.1007/s12311-020-01170-2
- By:
- Publication type:
- Article
Frequency and Genetic Profile of Compound Heterozygous Friedreich's Ataxia Patients—the Brazilian Experience.
- Published in:
- Cerebellum, 2019, v. 18, n. 6, p. 1143, doi. 10.1007/s12311-019-01055-z
- By:
- Publication type:
- Article
Exogenous erythropoietin increases hematological status, fat oxidation, and aerobic performance in males following prolonged strenuous training.
- Published in:
- Physiological Reports, 2024, v. 12, n. 10, p. 1, doi. 10.14814/phy2.16038
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- Publication type:
- Article
Severe, short-term sleep restriction reduces gut microbiota community richness but does not alter intestinal permeability in healthy young men.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-27463-0
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- Publication type:
- Article
Serum Branched-Chain Amino Acid Metabolites Increase in Males When Aerobic Exercise Is Initiated with Low Muscle Glycogen.
- Published in:
- Metabolites (2218-1989), 2021, v. 11, n. 12, p. 828, doi. 10.3390/metabo11120828
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- Publication type:
- Article
New mutations in the GLA gene in Brazilian families with Fabry disease.
- Published in:
- Journal of Human Genetics, 2012, v. 57, n. 6, p. 347, doi. 10.1038/jhg.2012.32
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- Publication type:
- Article
Asymmetric Nerve Enlargement: A Characteristic of Leprosy Neuropathy Demonstrated by Ultrasonography.
- Published in:
- PLoS Neglected Tropical Diseases, 2015, v. 9, n. 12, p. 1, doi. 10.1371/journal.pntd.0004276
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- Publication type:
- Article
Ultrasonography of Leprosy Neuropathy: A Longitudinal Prospective Study.
- Published in:
- PLoS Neglected Tropical Diseases, 2016, v. 10, n. 11, p. 1, doi. 10.1371/journal.pntd.0005111
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- Publication type:
- Article
Coexistence of CMT1A and diabetes mellitus in a young woman with a severe and progressive neuropathy and respiratory insufficiency.
- Published in:
- Muscle & Nerve, 2013, v. 47, n. 1, p. 141, doi. 10.1002/mus.23459
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- Publication type:
- Article
Coexistence of two chronic neuropathies in a young child: Charcot-marie-tooth disease type 1A and chronic inflammatory demyelinating polyneuropathy.
- Published in:
- Muscle & Nerve, 2010, v. 42, n. 4, p. 598, doi. 10.1002/mus.21753
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- Publication type:
- Article
Near-nerve potential in lepromatous leprosy.
- Published in:
- Muscle & Nerve, 2003, v. 28, n. 4, p. 460, doi. 10.1002/mus.10464
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- Publication type:
- Article
Truncal sensory loss in acquired demyelinating neuropathies.
- Published in:
- 1997
- By:
- Publication type:
- journal article
Use of the frontal assessment battery in evaluating executive dysfunction in patients with Huntington’s disease.
- Published in:
- Journal of Neurology, 2009, v. 256, n. 11, p. 1809, doi. 10.1007/s00415-009-5197-0
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- Publication type:
- Article
17p duplicated Charcot–Marie–Tooth 1A.
- Published in:
- Journal of Neurology, 2005, v. 252, n. 8, p. 972, doi. 10.1007/s00415-005-0797-9
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- Publication type:
- Article
Eplontersen for Hereditary Transthyretin Amyloidosis With Polyneuropathy.
- Published in:
- JAMA: Journal of the American Medical Association, 2023, v. 330, n. 15, p. 1448, doi. 10.1001/jama.2023.18688
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- Publication type:
- Article
Clinical and genetic profiles of patients with hereditary and wild-type transthyretin amyloidosis: the Transthyretin Cardiac Amyloidosis Registry in the state of São Paulo, Brazil (REACT-SP).
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03281-z
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- Publication type:
- Article
Electrophysiological activity of the pharyngoesophageal transition of total laryngectomees.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Idosos e planos de saúde no Brasil: análise das reclamações recebidas pela Agência Nacional de Saúde Suplementar.
- Published in:
- Revista Ciência & Saúde Coletiva, 2015, v. 20, n. 12, p. 3817, doi. 10.1590/1413-812320152012.11082014
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- Publication type:
- Article
Identification of adequate vehicles to carry nerve regeneration inducers using tubulisation.
- Published in:
- BMC Neuroscience, 2012, v. 13, n. 1, p. 100, doi. 10.1186/1471-2202-13-100
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- Publication type:
- Article
Phylogenetic insights on Mediterranean and Afrotropical <italic>Rhipicephalus</italic> species (Acari: Ixodida) based on mitochondrial DNA.
- Published in:
- Experimental & Applied Acarology, 2018, v. 75, n. 1, p. 107, doi. 10.1007/s10493-018-0254-y
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- Publication type:
- Article
Absorption of omega-3 fats from carbohydrate and proteinaceous food matrices before and after storage.
- Published in:
- Food Science & Nutrition, 2015, v. 3, n. 3, p. 195, doi. 10.1002/fsn3.204
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- Publication type:
- Article
PNPLA6 mutations cause Boucher-Neuhäuser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum.
- Published in:
- Brain: A Journal of Neurology, 2014, v. 137, n. 1, p. 69, doi. 10.1093/brain/awt326
- By:
- Publication type:
- Article
A suction blister model reliably assesses skin barrier restoration and immune response (734.1).
- Published in:
- FASEB Journal, 2014, v. 28, p. N.PAG, doi. 10.1096/fasebj.28.1_supplement.734.1
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- Publication type:
- Article
Charcot-Marie-Tooth disease, psychiatric indicators and quality of life: a systematic review.
- Published in:
- ASN Neuro (Sage Publications, Ltd.), 2014, v. 6, n. 3, p. 185, doi. 10.1042/AN20130048
- By:
- Publication type:
- Article
High-resolution ultrasonography for leprosy neuropathy evaluation.
- Published in:
- Leprosy Review, 2017, v. 88, n. 2, p. 290, doi. 10.47276/lr.88.2.290
- By:
- Publication type:
- Article
A common <italic>CHRNE</italic> mutation in Brazilian patients with congenital myasthenic syndrome.
- Published in:
- Journal of Neurology, 2018, v. 265, n. 3, p. 708, doi. 10.1007/s00415-018-8736-8
- By:
- Publication type:
- Article
Psychiatric disorders, spinocerebellar ataxia type 3 and CAG expansion.
- Published in:
- Journal of Neurology, 2015, v. 262, n. 7, p. 1777, doi. 10.1007/s00415-015-7807-3
- By:
- Publication type:
- Article
Dominant NARS1 mutations causing axonal Charcot–Marie–Tooth disease expand NARS1-associated diseases.
- Published in:
- Brain Communications, 2024, v. 6, n. 2, p. 1, doi. 10.1093/braincomms/fcae070
- By:
- Publication type:
- Article
Morphological and morphometric study of the superior vestibular nerve trunk in guinea pigs.
- Published in:
- Anatomical Record: Advances in Integrative Anatomy & Evolutionary Biology, 2023, v. 306, n. 8, p. 2044, doi. 10.1002/ar.25053
- By:
- Publication type:
- Article
Intermediate conduction velocity in two cases of Charcot−Marie−Tooth disease type 1A.
- Published in:
- European Journal of Neurology, 2024, v. 31, n. 5, p. 1, doi. 10.1111/ene.16199
- By:
- Publication type:
- Article
Sensory and Motor Conduction Velocity in Spontaneously Hypertensive Rats: Sex and Aging Investigation.
- Published in:
- Frontiers in Systems Neuroscience, 2019, v. 13, p. 1, doi. 10.3389/fnsys.2019.00062
- By:
- Publication type:
- Article
Bone turnover is altered during 72 h of sleep restriction: a controlled laboratory study.
- Published in:
- Endocrine (1355008X), 2019, v. 65, n. 1, p. 192, doi. 10.1007/s12020-019-01937-6
- By:
- Publication type:
- Article
What lies beneath: Fabry nephropathy in a female patient with severe cerebrovascular disease.
- Published in:
- Clinical Nephrology, 2013, v. 79, n. 4, p. 330, doi. 10.5414/CN107193
- By:
- Publication type:
- Article
RFC1‐Related Disorder: In Vivo Evaluation of Spinal Cord Damage.
- Published in:
- Movement Disorders, 2022, v. 37, n. 10, p. 2122, doi. 10.1002/mds.29169
- By:
- Publication type:
- Article
Autosomal Recessive Cerebellar Ataxias in South America: A Multicenter Study of 1338 Patients.
- Published in:
- Movement Disorders, 2022, v. 37, n. 8, p. 1773, doi. 10.1002/mds.29046
- By:
- Publication type:
- Article