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In Memoriam: Professor Marina Frontali, MD (1941–2021).
- Published in:
- 2021
- By:
- Publication type:
- Obituary
Leukocyte Telomere Length as Potential Biomarker of HD Progression: A Follow-Up Study.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 21, p. 13449, doi. 10.3390/ijms232113449
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- Publication type:
- Article
Circulating U13 Small Nucleolar RNA as a Potential Biomarker in Huntington's Disease: A Pilot Study.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 20, p. 12440, doi. 10.3390/ijms232012440
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- Publication type:
- Article
Episodic Ataxias: Faux or Real?
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 18, p. 6472, doi. 10.3390/ijms21186472
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- Publication type:
- Article
A Novel De Novo Mutation of the TITF1/NKX2-1 Gene Causing Ataxia, Benign Hereditary Chorea, Hypothyroidism and a Pituitary Mass in a UK Family and Review of the Literature.
- Published in:
- Cerebellum, 2014, v. 13, n. 5, p. 588, doi. 10.1007/s12311-014-0570-7
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- Publication type:
- Article
A shared haplotype for dentatorubropallidoluysian atrophy (DRPLA) in Italian families testifies of the recent introduction of the mutation.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 3, p. 153, doi. 10.1038/jhg.2013.137
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- Publication type:
- Article
Molecular mechanism of Spinocerebellar Ataxia type 6: glutamine repeat disorder, channelopathy and transcriptional dysregulation. The multifaceted aspects of a single mutation.
- Published in:
- Frontiers in Cellular Neuroscience, 2015, v. 8/9, p. 1, doi. 10.3389/fncel.2015.00036
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- Publication type:
- Article
Leukocyte Telomere Length Variability as a Potential Biomarker in Patients with PolyQ Diseases.
- Published in:
- Antioxidants, 2022, v. 11, n. 8, p. 1, doi. 10.3390/antiox11081436
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- Publication type:
- Article
Familial hemiplegic migraine in pediatric patients: A genetic, clinical, and follow‐up study.
- Published in:
- Headache: The Journal of Head & Face Pain, 2023, v. 63, n. 7, p. 889, doi. 10.1111/head.14582
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- Publication type:
- Article
Application of Molecular Analysis to Genetic Counseling in the Wiskott-Aldrich Syndrome (WAS).
- Published in:
- DNA & Cell Biology, 1993, v. 12, n. 7, p. 645, doi. 10.1089/dna.1993.12.645
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- Publication type:
- Article
Characterization of human frataxin missense variants in cancer tissues.
- Published in:
- Human Mutation, 2019, v. 40, n. 9, p. 1400, doi. 10.1002/humu.23789
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- Publication type:
- Article
Altered pituitary morphology as a sign of benign hereditary chorea caused by TITF1/NKX2.1 mutations.
- Published in:
- Neurogenetics, 2022, v. 23, n. 2, p. 91, doi. 10.1007/s10048-021-00680-3
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- Publication type:
- Article
Episodic Ataxia Type 2 (EA2) and Spinocerebellar Ataxia Type 6 (SCA6) Due to CAG Repeat Expansion in the CACNA1A Gene on Chromosome 19p.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 11, p. 1973, doi. 10.1093/hmg/6.11.1973
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- Publication type:
- Article