Presymptomatic genetic counseling in amyotrophic lateral sclerosis

QRコード

Presymptomatic genetic counseling in amyotrophic lateral sclerosis

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by progressive loss of central and peripheric motor neurons, with genetic factors playing significant role in its development. In this article, we discuss in detail the difficulties in the analysis of ALS related...

保存先:

書誌詳細
主要な著者:	Yu. A. Shpilyukova, A. A. Rosliakova, M. N. Zakharova, S. N. Illarioshkin
フォーマット:	論文
言語:	ロシア語
出版事項:	ABV-press 2018-01-01
シリーズ:	Нервно-мышечные болезни
主題:	amyotrophic lateral sclerosis dna testing sod1 gene presymptomatic genetic counseling genetic risk
オンライン･アクセス:	https://nmb.abvpress.ru/jour/article/view/240
タグ:	タグ追加タグなし, このレコードへの初めてのタグを付けませんか!

類似資料

MOLECULAR STRUCTURE OF AMYOTROPHIC LATERAL SCLEROSIS IN RUSSIAN POPULATION
著者:: N. Yu. Abramycheva, 等
出版事項: (2017-01-01)

Genetics of familial amyotrophic lateral sclerosis
著者:: A. V. Savinova, 等
出版事項: (2021-10-01)

Difficulties in diagnosing amyotrophic lateral sclerosis in a HIV-Positive Patient
著者:: T. M. Alekseeva, 等
出版事項: (2018-12-01)

The role of some risk factors in the development and the flow of amyotrophic lateral sclerosis
著者:: A. V. Lebedev
出版事項: (2009-02-01)

2 cases transformation myasthenia gravis to amyotrophic lateral sclerosis
著者:: A. G. Sanadze, 等
出版事項: (2015-02-01)

Epidemiology of amyotrophic lateral sclerosis in the Krasnoyarsk region
著者:: E. A. Ermilov, 等
出版事項: (2024-01-01)

Detection of bulbar amyotrophic lateral sclerosis based on speech analysis
著者:: A. D. Gvozdovich, 等
出版事項: (2019-06-01)

Clinical features of fatigue in amyotrophic lateral sclerosis
著者:: E. V. Pervushina, 等
出版事項: (2025-04-01)

Acoustic analysis of voice for detection of speech disorder for amyotrophic lateral sclerosis
著者:: M. I. Vashkevich, 等
出版事項: (2019-06-01)

Neural dynamics impairments in amyotrophic lateral sclerosis patients and their associations with clinical characteristics: An observational cohort study
著者:: Wei Zheng, 等
出版事項: (2025-09-01)

Deontological aspects of the amyotrophic lateral sclerosis
著者:: T. M. Alekseeva, 等
出版事項: (2018-01-01)

Possibilities of ultrasound in the diagnosis and differential diagnosis of amyotrophic lateral sclerosis: a literature review
著者:: A. V. Mansurova, 等
出版事項: (2022-02-01)

Management of Dysarthria in Amyotrophic Lateral Sclerosis
著者:: Elena Pasqualucci, 等
出版事項: (2025-07-01)

Amyotrophic lateral sclerosis: Clinical heterogeneity and approaches to classification
著者:: I. S. Bakulin, 等
出版事項: (2017-11-01)

Relationship Between Voice Analysis and Functional Status in Patients with Amyotrophic Lateral Sclerosis
著者:: Margarita Pérez-Bonilla, 等
出版事項: (2025-05-01)

Immune checkpoint changes correlate with the progression and prognosis of amyotrophic lateral sclerosis
著者:: Sheng Chen, 等
出版事項: (2025-12-01)

Laparoscopically assisted percutaneous endoscopic gastrostomy performed for remnant stomach in patient with amyotrophic lateral sclerosis: a case report
著者:: Yutaro Ohgaki, 等
出版事項: (2023-06-01)

Attenuation of amyotrophic lateral sclerosis via stem cell and extracellular vesicle therapy: An updated review
著者:: Gavin Lockard, 等
出版事項: (2023-12-01)

Muscle ultrasound imaging in the diagnosis of amyotrophic lateral sclerosis
著者:: Yu. N. Rushkevich, 等
出版事項: (2015-02-01)

Voxel-based morphometry in amyotrophic lateral sclerosis
著者:: I. S. Bakulin, 等
出版事項: (2019-01-01)

Pupil response as a window into cognitive processing in amyotrophic lateral sclerosis
著者:: Mohamad El Haj, 等
出版事項: (2025-09-01)

The emerging role of cellular senescence in amyotrophic lateral sclerosis
著者:: Xingli Tan, 等
出版事項: (2025-08-01)

Dynamics of Onset and Progression in Amyotrophic Lateral Sclerosis
著者:: Michael Swash, 等
出版事項: (2025-06-01)

Sleep disorders of insomnia type in patients with amyotrophic lateral sclerosis
著者:: G. N. Levitskiy, 等
出版事項: (2017-11-01)

Histone Deacetylase 6 Brain PET in Amyotrophic Lateral Sclerosis‐Frontotemporal Spectrum Disorder
著者:: Greet Vanderlinden, 等
出版事項: (2025-07-01)

The role of some risk factors in the development of amyotrophic lateral sclerosis in big industrial city in Western Siberia
著者:: A. V. Lebedev, 等
出版事項: (2011-04-01)

Thalamic nuclei volumes are related to disease stage in patients with amyotrophic lateral sclerosis
著者:: Tianrui Wen, 等
出版事項: (2025-07-01)

Quantification of Skeletal Muscle at the First Lumbar Level for Prognosis in Amyotrophic Lateral Sclerosis
著者:: Yujia Cao, 等
出版事項: (2025-06-01)

Emerging biomarkers in amyotrophic lateral sclerosis: from pathogenesis to clinical applications
著者:: Farah Anjum, 等
出版事項: (2025-06-01)

MicroRNA as a Potential Biomarker for Amyotrophic Lateral Sclerosis (ALS)
著者:: José Augusto Nogueira-Machado, 等
出版事項: (2025-05-01)

Intracortical inhibiton assessment using threshold tracking technique in amyotrophic lateral sclerosis
著者:: I. S. Bakulin, 等
出版事項: (2024-12-01)

Superoxide dismutase activity in tear fluid and blood of patients and mouse model of amyotrophic lateral sclerosis: a pilot study
著者:: Tatiana A. Pavlenko, 等
出版事項: (2025-07-01)

Unlocking amyotrophic lateral sclerosis: the role of adiponectin in inflammation and disease progression
著者:: Mei Tian, 等
出版事項: (2025-07-01)

KIF5A p.Pro986Leu Risk Variant and Accelerated Progression of Amyotrophic Lateral Sclerosis
著者:: Arianna Manini, 等
出版事項: (2025-07-01)

Comprehensive identification of pathogenic tandem repeat expansions in sporadic amyotrophic lateral sclerosis: advantages of long-read vs. short-read sequencing
著者:: Eleonora Sabetta, 等
出版事項: (2025-07-01)

Sonographic Evaluation of Peripheral Nerves and Cervical Nerve Roots in Amyotrophic Lateral Sclerosis: A Systematic Review and Meta-Analysis
著者:: Anas Elgenidy, 等
出版事項: (2025-06-01)

RNA helicase maheshvara interacts with TDP-43 and exacerbates neurodegeneration in Drosophila model of amyotrophic lateral sclerosis
著者:: Pranjali Pandey, 等
出版事項: (2025-10-01)

Amyotrophic lateral sclerosis: pathogenetic mechanisms and new approaches to pharmacotherapy (literature review)
著者:: T. M. Alekseeva, 等
出版事項: (2019-01-01)

Juvenile amyotrophic lateral sclerosis type 4: case report and review
著者:: G. E. Rudenskaya, 等
出版事項: (2022-09-01)

Accumulation of TDP-43 causes karyopherin-α4 pathology that characterises amyotrophic lateral sclerosis
著者:: Manpreet Singh Atwal, 等
出版事項: (2025-07-01)