نتایج جستجو برای: ژن als

تعداد نتایج: 42849  

Journal: :Cell 2001
Jean-Pierre Julien

inherited loci map to chromosomes 2q and 15q whereas one dominant juvenile-onset locus maps to chromo-However, the genes responsible for these familial ALS-FTD and juvenile ALS cases have not yet been Amyotrophic lateral sclerosis (ALS) is one of the most identified. common adult-onset neurogenerative diseases, having In a small number of sporadic ALS patients (‫%1ف‬ of a prevalence of ‫5ف‬ per...

Journal: :Brain Research 2011
Chrystian Junqueira Alves Luana Pereira de Santana Angélica Janaína Dias dos Santos Gabriela Pintar de Oliveira Tatiana Duobles Juliana Milani Scorisa Roberto Sérgio Martins Jessica Ruivo Maximino Gerson Chadi

Amyotrophic lateral sclerosis (ALS) is a progressive degenerative disorder affecting motoneurons and the SOD1(G93A) transgenic mice are widely employed to study disease physiopathology and therapeutic strategies. Despite the cellular and biochemical evidences of an early motor system dysfunction, the conventional behavioral tests do not detect early motor impairments in SOD1 mouse model. We eva...

2013
James R Williams David Fitzhenry Lauren Grant Derek Martyn Douglas A Kerr

BACKGROUND Initial symptoms of amyotrophic lateral sclerosis (ALS) are often subtle and can delay diagnosis. This exploratory analysis was conducted to better characterize the pre-diagnosis pathway undertaken by patients with ALS in the US Centers for Medicare & Medicaid Services Medicare longitudinal claims database. METHODS Quarterly Medicare claims data were analyzed to determine the pre-d...

A. Saidi, M. Mirzaei

In This research, gold nanoparticles were synthesized and functionalized by the antibody of aflatoxins. The quenching of the fluorescence of excitation emission matrices (EEM) of two type of aflatoxins (B1, G1), provoked by the gold nanoparticles, was studied by principal component analysis (PCA) and multivariate curve resolution with alternating least squares (MCR-ALS). These aflatoxins show q...

2016
Paul Talman Thi Duong Steve Vucic Susan Mathers Svetha Venkatesh Robert Henderson Dominic Rowe David Schultz Robert Edis Merrilee Needham Richard Macdonnell Pamela McCombe Carol Birks Matthew Kiernan

OBJECTIVE To capture the clinical patterns, timing of key milestones and survival of patients presenting with amyotrophic lateral sclerosis/motor neuron disease (ALS/MND) within Australia. METHODS Data were prospectively collected and were timed to normal clinical assessments. An initial registration clinical report form (CRF) and subsequent ongoing assessment CRFs were submitted with a compl...

Journal: :Internal medicine 2012
Ken Ikeda Takehisa Hirayama Takanori Takazawa Kiyokazu Kawabe Yasuo Iwasaki

OBJECTIVE Previous studies have reported distinct serological profiles of lipid, urate and ferritin in Western patients with amyotrophic lateral sclerosis (ALS). We aimed to examine the levels of these serological factors and their relationship to disease progression in Japanese ALS patients. METHODS Ninety-two patients with definite or probable ALS who fulfilled the revised El Escorial crite...

2017
Nisha Mukherjee Shan McBurney-Lin Anthony Kuo Richard Bedlack Henry Tseng

IMPORTANCE Amyotrophic lateral sclerosis (ALS) is a fatal, rapidly progressive neurodegenerative disease that primarily affects motor neurons. Recently, three causative genes have been implicated in both ALS and glaucoma. However, it is still uncertain whether patients with ALS have neurodegeneration in their retinas. If so, retinal thickness measurements might be a useful biomarker for ALS pro...

Journal: :Amyotrophic lateral sclerosis & frontotemporal degeneration 2014
Chiara Cerami Alessandra Dodich Nicola Canessa Chiara Crespi Sandro Iannaccone Massimo Corbo Christian Lunetta Monica Consonni Elisa Scola Andrea Falini Stefano F Cappa

Amyotrophic lateral sclerosis (ALS) is a multisystem condition, in which executive and/or behavioural symptoms can occur. Deficits of social cognition, including defective cognitive and emotional empathy, have been recently reported in ALS subjects. The neurostructural correlates of these disorders in ALS are still unknown. The aims of this study were to evaluate two components of empathy in no...

2014
Mark H. G. Verheijen Marco Peviani Rita Hendricusdottir Erin M. Bell Martin Lammens August B. Smit Caterina Bendotti Jan van Minnen

Myelinating glia cells support axon survival and functions through mechanisms independent of myelination, and their dysfunction leads to axonal degeneration in several diseases. In amyotrophic lateral sclerosis (ALS), spinal motor neurons undergo retrograde degeneration, and slowing of axonal transport is an early event that in ALS mutant mice occurs well before motor neuron degeneration. Inter...

2006
Jan-Paul van den Berg

Amyotrophic lateral sclerosis (ALS) is a devastating neuromuscular disorder characterized by degeneration of lower and upper motor neurons. The incidence ranges from 1.5 to 2.0 per 100,000 population per year with an overall male predominance. The course of the disease is relentlessly progressive, but the rate of deterioration varies from patient to patient. Approximately 50% of the patients di...

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