Found: 16
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Epoetin alfa increases frataxin production in Friedreich's ataxia without affecting hematocrit.
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- Movement Disorders, 2011, v. 26, n. 4, p. 739, doi. 10.1002/mds.23435
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- Article
Functional genomic analysis of frataxin deficiency reveals tissue-specific alterations and identifies the PPARγ pathway as a therapeutic target in Friedreich’s ataxia.
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- Human Molecular Genetics, 2009, v. 18, n. 13, p. 2452, doi. 10.1093/hmg/ddp183
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- Article
Different Mechanisms Cause Hypomethylation of Both H19 and KCNQ1OT1 Imprinted Differentially Methylated Regions in Two Cases of Silver–Russell Syndrome Spectrum.
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- Genes, 2022, v. 13, n. 10, p. N.PAG, doi. 10.3390/genes13101875
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- Article
Fibrodysplasia Ossificans Progressiva: A Challenging Diagnosis.
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- Genes, 2021, v. 12, n. 8, p. 1187, doi. 10.3390/genes12081187
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- Article
Identification of Candidate Children for Maturity-Onset Diabetes of the Young Type 2 (MODY2) Gene Testing: A Seven-Item Clinical Flowchart (7-iF).
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- PLoS ONE, 2013, v. 8, n. 11, p. 1, doi. 10.1371/journal.pone.0079933
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- Article
PGC-1alpha Down-Regulation Affects the Antioxidant Response in Friedreich’s Ataxia.
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- PLoS ONE, 2010, v. 5, n. 4, p. 1, doi. 10.1371/journal.pone.0010025
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- Article
Friedreich’s Ataxia: From the (GAA)<sub> n</sub> Repeat Mediated Silencing to New Promising Molecules for Therapy.
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- Cerebellum, 2009, v. 8, n. 3, p. 245, doi. 10.1007/s12311-008-0084-2
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- Article
PPAR-γ Agonist Azelaoyl PAF Increases Frataxin Protein and mRNA Expression. New Implications for the Friedreich’s Ataxia Therapy.
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- Cerebellum, 2009, v. 8, n. 2, p. 98, doi. 10.1007/s12311-008-0087-z
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- Article
Recombinant Human Erythropoietin Increases Frataxin Protein Expression Without Increasing mRNA Expression.
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- Cerebellum, 2008, v. 7, n. 3, p. 360, doi. 10.1007/s12311-008-0036-x
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- Article
β2-adrenergic receptor and UCP3 variants modulate the relationship between age and type 2 diabetes mellitus.
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- BMC Medical Genetics, 2006, v. 7, p. 85, doi. 10.1186/1471-2350-7-85
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- Article
Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic Ichthyosis.
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- Biomedicines, 2024, v. 12, n. 5, p. 1112, doi. 10.3390/biomedicines12051112
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- Article
RAI1 gene mutations: mechanisms of Smith-Magenis syndrome.
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- Application of Clinical Genetics, 2017, v. 10, p. 85, doi. 10.2147/TACG.S128455
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- Article
Small 4p16.3 deletions: Three additional patients and review of the literature.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2501, doi. 10.1002/ajmg.a.40512
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- Article
First evidence of Smith-Magenis syndrome in mother and daughter due to a novel RAI mutation.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 231, doi. 10.1002/ajmg.a.37989
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- Article
Mucopolysaccharidosis type II in a female patient with a reciprocal X;9 translocation and skewed X chromosome inactivation.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2627, doi. 10.1002/ajmg.a.36667
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- Article
Science, art, and mistery in the statues and in the anatomical machines of the prince of sansevero: The masterpieces of the 'Sansevero Chapel'.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2920, doi. 10.1002/ajmg.a.36258
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- Article