Cargando…

The History of Gene Hunting in Hereditary Spinocerebellar Degeneration: Lessons From the Past and Future Perspectives

Hereditary spinocerebellar degeneration (SCD) encompasses an expanding list of rare diseases with a broad clinical and genetic heterogeneity, complicating their diagnosis and management in daily clinical practice. Correct diagnosis is a pillar for precision medicine, a branch of medicine that promis...

Descripción completa

Detalles Bibliográficos
Autores principales:	Yahia, Ashraf, Stevanin, Giovanni
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2021
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8021710/ https://www.ncbi.nlm.nih.gov/pubmed/33833777 http://dx.doi.org/10.3389/fgene.2021.638730

Ejemplares similares

Hunting human disease genes: lessons from the past, challenges for the future
por: Brunham, Liam R., et al.
Publicado: (2013)

10 Years of Toxicogenomics section in Frontiers in Genetics: Past discoveries and Future Perspectives
por: Ruden, Douglas M.
Publicado: (2022)

Erratum: 10 Years of Toxicogenomics section in Frontiers in Genetics: Past discoveries and Future Perspectives
Publicado: (2023)

Editorial: 10 years of Frontiers in genetics: past discoveries, current challenges and future perspectives
por: Cho, William C., et al.
Publicado: (2023)

The comet assay: past, present, and future
por: Langie, Sabine A. S., et al.
Publicado: (2015)

Feasibility of Follow-Up Studies and Reclassification in Spinocerebellar Ataxia Gene Variants of Unknown Significance
por: Ghorbani, Fatemeh, et al.
Publicado: (2022)

Sports cardiology: lessons from the past and perspectives for the future
por: Leischik, Roman
Publicado: (2015)

Spinocerebellar Ataxia 36: From Mutations Toward Therapies
por: Lopez, Samuel, et al.
Publicado: (2022)

RNA Biological Characteristics at the Peak of Cell Death in Different Hereditary Retinal Degeneration Mutants
por: Wei, Chunling, et al.
Publicado: (2021)

Past, present, and future of epigenetics applied to livestock breeding
por: González-Recio, Oscar, et al.
Publicado: (2015)

A trial of topiramate for patients with hereditary spinocerebellar ataxia
por: Miura, Shiroh, et al.
Publicado: (2023)

Lipids in the Physiopathology of Hereditary Spastic Paraplegias
por: Darios, Frédéric, et al.
Publicado: (2020)

The Grand Challenge for Frontiers in Genetics: To Understand Past, Present, and Future
por: Allison, David B.
Publicado: (2011)

Clinical Observation and Genotype-Phenotype Analysis of ABCA4-Related Hereditary Retinal Degeneration before Gene Therapy
por: Xiao, Xuan, et al.
Publicado: (2022)

Response: Commentary: Past, present and future of epigenetics applied to livestock breeding
por: González-Recio, Oscar, et al.
Publicado: (2016)

Anesthetic management of a patient with spinocerebellar degeneration
por: Vadhanan, Prasanna, et al.
Publicado: (2011)

Incidentalome in Neurogenetics: Pathogenic Variant of NSD1 in a Patient With Spinocerebellar Ataxia (SCA)
por: Velasco, Harvy, et al.
Publicado: (2018)

The genetic and molecular features of the intronic pentanucleotide repeat expansion in spinocerebellar ataxia type 10
por: Kurosaki, Tatsuaki, et al.
Publicado: (2022)

Therapeutic management of hereditary angioedema: past, present, and future
por: Valerieva, Anna, et al.
Publicado: (2021)

Short rotation plantations policy history in Europe: lessons from the past and recommendations for the future
por: Lindegaard, Kevin N., et al.
Publicado: (2016)

Mapping Novel Pathways in Cardiovascular Disease Using eQTL Data: The Past, Present, and Future of Gene Expression Analysis
por: Gupta, Rajat M., et al.
Publicado: (2013)

Drosophila mRNA Localization During Later Development: Past, Present, and Future
por: Hughes, Sarah C., et al.
Publicado: (2019)

Lessons from the past: pathways to the future
por: Winter, Robert B.
Publicado: (2009)

Past lessons and future importance of polarization
por: Lipkin, Harry Jeannot
Publicado: (1980)

Past, Present and Future: Perspectives on an Oral History of Intellectual Disability Nursing
por: Doyle, Carmel, et al.
Publicado: (2022)

ANCA-Associated Vasculitides and Hematologic Malignancies: Lessons from the Past and Future Perspectives
por: Folci, Marco, et al.
Publicado: (2019)

RNA Expression Profile and Potential Biomarkers in Patients With Spinocerebellar Ataxia Type 3 From Mainland China
por: Li, Tianjiao, et al.
Publicado: (2019)

Recurrent Acute Liver Failure in a Bahraini Child With a Novel Mutation of Spinocerebellar Ataxia-21
por: Isa, Hasan M, et al.
Publicado: (2023)

Mediastinal tumor resection in a patient with spinocerebellar degeneration
por: Tsuboi, Eiyu, et al.
Publicado: (2020)

Altered cerebral blood flow in patients with spinocerebellar degeneration
por: Liu, Bing, et al.
Publicado: (2022)

Current Knowledge of Endolysosomal and Autophagy Defects in Hereditary Spastic Paraplegia
por: Toupenet Marchesi, Liriopé, et al.
Publicado: (2021)

From a documented past of the Jersey breed in Africa to a profit index linked future
por: Opoola, Oluyinka, et al.
Publicado: (2022)

The Peopling and Migration History of the Natives in Peninsular Malaysia and Borneo: A Glimpse on the Studies Over the Past 100 years
por: Hoh, Boon-Peng, et al.
Publicado: (2022)

A heterozygous mutation in the CCDC88C gene likely causes early-onset pure hereditary spastic paraplegia: a case report
por: Yahia, Ashraf, et al.
Publicado: (2021)

A Non-Hereditary Case of Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome
por: Kapila, Vaishali, et al.
Publicado: (2021)

Two Compound Heterozygous Variants in SNX14 Cause Stereotypies and Dystonia in Autosomal Recessive Spinocerebellar Ataxia 20
por: Maia, Nuno, et al.
Publicado: (2020)

History of burns: The past, present and the future
por: Lee, Kwang Chear, et al.
Publicado: (2014)

Lessons from the past, policies for the future: resilience and sustainability in past crises
por: Haldon, John, et al.
Publicado: (2020)

Mechanical ventilation: past lessons and the near future
por: Marini, John J
Publicado: (2013)

Warm climates of the past—a lesson for the future?
por: Lunt, D. J., et al.
Publicado: (2013)

Cannot write session to /tmp/vufind_sessions/sess_n6shjqpr3c3nrk1k5tin62g8ce