نتایج جستجو برای: sporadic amyotrophic lateral sclerosis sals

تعداد نتایج: 198646  

2017
Veronica Hirsch-Reinshagen Cyril Pottier Alexandra M. Nicholson Matt Baker Ging-Yuek R. Hsiung Charles Krieger Pheth Sengdy Kevin B. Boylan Dennis W. Dickson Marsel Mesulam Sandra Weintraub Eileen Bigio Lorne Zinman Julia Keith Ekaterina Rogaeva Sasha A. Zivkovic David Lacomis J. Paul Taylor Rosa Rademakers Ian R. A. Mackenzie

Mutations in the stress granule protein T-cell restricted intracellular antigen 1 (TIA1) were recently shown to cause amyotrophic lateral sclerosis (ALS) with or without frontotemporal dementia (FTD). Here, we provide detailed clinical and neuropathological descriptions of nine cases with TIA1 mutations, together with comparisons to sporadic ALS (sALS) and ALS due to repeat expansions in C9orf7...

2017
ChunYu Li YongPing Chen XuePing Chen QianQian Wei Bei Cao HuiFang Shang

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by the death of upper and lower motor neurons. MicroRNAs (miRNAs) are reported to be closely related to the development of ALS. However, the precise functions of miRNAs in the pathogenesis of ALS remain largely unknown. In previous studies, we determined that miRNA-193b-3p was significantly downregulated in p...

2013
Rachele A. Saccon Rosie K. A. Bunton-Stasyshyn Elizabeth M.C. Fisher Pietro Fratta

Mutations in the gene superoxide dismutase 1 (SOD1) are causative for familial forms of the neurodegenerative disease amyotrophic lateral sclerosis. When the first SOD1 mutations were identified they were postulated to give rise to amyotrophic lateral sclerosis through a loss of function mechanism, but experimental data soon showed that the disease arises from a—still unknown—toxic gain of func...

Journal: :Neurologia i neurochirurgia polska 2009
Magdalena Kuźma-Kozakiewicz Hubert Kwieciński

Amyotrophic lateral sclerosis (ALS) is a devastating disorder of still unknown aetiology and pathogenesis. It is characterized by a progressive and selective loss of motor neurons in the brain and spinal cord. The majority of ALS cases (90%) are sporadic and in approximately 10% the disorder is familial. In the light of recent studies, the familial forms might however be more frequent. The arti...

Journal: :Brain : a journal of neurology 2014
Jan Kassubek Hans-Peter Müller Kelly Del Tredici Johannes Brettschneider Elmar H Pinkhardt Dorothée Lulé Sarah Böhm Heiko Braak Albert C Ludolph

Diffusion tensor imaging can identify amyotrophic lateral sclerosis-associated patterns of brain alterations at the group level. Recently, a neuropathological staging system for amyotrophic lateral sclerosis has shown that amyotrophic lateral sclerosis may disseminate in a sequential regional pattern during four disease stages. The objective of the present study was to apply a new methodologica...

Journal: :Clinical genetics 2006
A Slowik B Tomik D Partyka W Turaj J Pera T Dziedzic P Szermer D A Figlewicz A Szczudlik

To the Editor: Paraoxonase-1 (PON1) is an HDL-associated enzyme which hydrolyzes the oxidized lipids in LDL and organophosphate insecticides, pesticides, and nerve gases. The PON1 gene is located on chromosome 7q21.3-q22.1. The Q192R polymorphism influences the enzyme activity. Carriers of RR192 genotype present with the lowest ability to protect LDL from oxidation, the lowest hydrolytic activi...

Journal: :iranian journal of neurology 0
majid ghasemi neuroscience research center and department of neurology, school of medicine, ‎isfahan university of medical sciences, isfahan, iran‎

amyotrophic lateral sclerosis (als) misdiagnosis has many broad implications for the patient and the neurologist. potentially curative treatments exist for certain als mimic syndromes, but delay in starting these therapies may have an unfavorable effect on outcome. hence, it is important to exclude similar conditions. in this review, we discuss some of the important mimics of als.

2013
Rachele A. Saccon Rosie K. A. Bunton-Stasyshyn Elizabeth M.C. Fisher Pietro Fratta

Mutations in the gene superoxide dismutase 1 (SOD1) are causative for familial forms of the neurodegenerative disease amyotrophic lateral sclerosis. When the first SOD1 mutations were identified they were postulated to give rise to amyotrophic lateral sclerosis through a loss of function mechanism, but experimental data soon showed that the disease arises from a--still unknown--toxic gain of fu...

2013

Amyotrophic lateral sclerosis is a neurodegenerative disease that is incurable and results in paralysis of the muscles. Different forms of amyotrophic lateral sclerosis are explained with case studies to demonstrate how they are diagnosed in real patients. Two forms of magnetic resonance imaging (MRI) are discussed showing how the disease affects the human brain. Electromyography is used to dia...

Introduction: Amyotrophic lateral sclerosis (ALS) is a relatively rare disease that can be associated with various mental, physical and psychological burdens. The aim of this study was to evaluate the effectiveness of interventions based on positive psychology on post-traumatic growth, self-compassion and quality of life in patients with amyotrophic lateral sclerosis. Methods: This descriptive-...

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید