Add to ORKGAmyotrophic lateral sclerosis (ALS) is a fatal neurode-generative disorder that causes loss of motor neurons. A pathological hallmark of ALS is the presence of ubiquitinated TAR DNA binding protein (TDP-43) inclusions in the cytoplasm of affected cells. Rare pathogenic mutations within the gene TARDBP that encode TDP-43 were recently reported in ALS but their functional consequences are unknown. To further investigate the pathogenic role of TDP-43 in ALS, a mutation analysis of TARDBP was performed in an Australian cohort of 74 sporadic and 30 familial ALS cases. A novel familial ALS mutation in TDP-43 was identified that substitutes a highly conserved residue (G294V) and is predicted to disrupt the glycine rich domain in the C terminus, a ...
Recent studies identified rare missense mutations in amyotrophic lateral sclerosis (ALS) patients in...
Amyotrophic lateral sclerosis (ALS) is a complex fatal degenerative disease selectively affecting mo...
Amyotrophic lateral sclerosis (ALS) is a progressive, fatal disorder characterized by muscle weaknes...
Amyotrophic lateral sclerosis (ALS) is a fatal neuro-degenerative disorder that causes loss of motor...
amyotrophic lateral sclerosis Recently, mutations in TARDBP have been identified in sporadic amyotro...
BACKGROUND AND PURPOSE: Increasing evidence suggests a direct role of the TAR DNA-binding protein 43...
Amyotrophic lateral sclerosis (ALS) is a fatal motor neuron disorder characterized pathologically by...
Increasing evidence suggests a direct role of the TAR DNA-binding protein 43 (TDP-43) in neurodegene...
The TAR DNA-binding protein 43 (TDP-43) has been identified as the major disease protein in amyotrop...
The TAR DNA-binding protein 43 (TDP-43) has been identified as the major disease protein in amyotrop...
The finding of TDP-43 as a major component of ubiquitinated protein inclusions in amyotrophic latera...
Increasing evidence suggests a direct role of the TAR DNA-binding protein 43 (TDP-43) in neurodegene...
Since 2008, several groups have reported a lot of dominant mutations in TARDBP gene as a primary cau...
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease caused by a selective loss of mot...
Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative condition that affects corticospinal and ...
Recent studies identified rare missense mutations in amyotrophic lateral sclerosis (ALS) patients in...
Amyotrophic lateral sclerosis (ALS) is a complex fatal degenerative disease selectively affecting mo...
Amyotrophic lateral sclerosis (ALS) is a progressive, fatal disorder characterized by muscle weaknes...
Amyotrophic lateral sclerosis (ALS) is a fatal neuro-degenerative disorder that causes loss of motor...
amyotrophic lateral sclerosis Recently, mutations in TARDBP have been identified in sporadic amyotro...
BACKGROUND AND PURPOSE: Increasing evidence suggests a direct role of the TAR DNA-binding protein 43...
Amyotrophic lateral sclerosis (ALS) is a fatal motor neuron disorder characterized pathologically by...
Increasing evidence suggests a direct role of the TAR DNA-binding protein 43 (TDP-43) in neurodegene...
The TAR DNA-binding protein 43 (TDP-43) has been identified as the major disease protein in amyotrop...
The TAR DNA-binding protein 43 (TDP-43) has been identified as the major disease protein in amyotrop...
The finding of TDP-43 as a major component of ubiquitinated protein inclusions in amyotrophic latera...
Increasing evidence suggests a direct role of the TAR DNA-binding protein 43 (TDP-43) in neurodegene...
Since 2008, several groups have reported a lot of dominant mutations in TARDBP gene as a primary cau...
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease caused by a selective loss of mot...
Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative condition that affects corticospinal and ...
Recent studies identified rare missense mutations in amyotrophic lateral sclerosis (ALS) patients in...
Amyotrophic lateral sclerosis (ALS) is a complex fatal degenerative disease selectively affecting mo...
Amyotrophic lateral sclerosis (ALS) is a progressive, fatal disorder characterized by muscle weaknes...