Add to ORKGPerry syndrome consists of early-onset parkinsonism, depression, severe weight loss and hypoventilation, in which brain pathology is characterized by TDP-43 immunostaining. Through genome-wide linkage analysis we have identified five disease-segregating dynactin (DCTN1) CAP-Gly domain substitutions in 8 families that diminish microtubule binding and lead to intracytoplasmic inclusions. DCTN1 mutations were previously associated with motor neuron disease but can underlie the selective vulnerability of other neuronal populations in distinct neurodegenerative disorders
BACKGROUND: Myoclonus-dystonia (M-D) is a hyperkinetic movement disorder with predominant myoclonic ...
peer reviewedParkinson's disease (PD) is characterized by selective degeneration of neurons in the s...
The identification of genetic causes for Mendelian disorders has been based on the collection of mul...
DCTN1 encodes the largest subunit of dynactin complex essential in the retrograde axonal transport a...
The dynactin p150 glued subunit, encoded by the gene DCTN1 is part of the dynein dynactin motor prot...
Perry syndrome is a rare form of autosomal dominant Parkinsonism with respiratory failure recently d...
BACKGROUND: Perry syndrome (PS) caused by DCTN1 gene mutation is clinically characterized by autosom...
The molecular motor dynein and its associated regulatory subunit dynactin have been implicated in se...
Aim: Missense mutations of dynactin subunit p150Glued have been associated with multiple neurodegene...
Mutations in the Dynactin 1 (DCTN1) gene have been demonstrated to result in various neurodegenerati...
In this issue of Neuron, work from Moughamian and Holzbaur (2012) and Lloyd et al. (2012) reveals a ...
Sequence variants in exon 2 of the Dynactin-1 gene (DCTN1) have been reported as causative of Perry ...
A novel cosegregating splice site variant in the Dynactin-1 (DCTN1) gene was discovered by Next Gene...
The human dynactin 1 gene (DCTN1) is positioned on chromosome 2p13, the candidate region for various...
Inherited peripheral neuropathies (IPNs) are a clinically and genetically heterogeneous group of dis...
BACKGROUND: Myoclonus-dystonia (M-D) is a hyperkinetic movement disorder with predominant myoclonic ...
peer reviewedParkinson's disease (PD) is characterized by selective degeneration of neurons in the s...
The identification of genetic causes for Mendelian disorders has been based on the collection of mul...
DCTN1 encodes the largest subunit of dynactin complex essential in the retrograde axonal transport a...
The dynactin p150 glued subunit, encoded by the gene DCTN1 is part of the dynein dynactin motor prot...
Perry syndrome is a rare form of autosomal dominant Parkinsonism with respiratory failure recently d...
BACKGROUND: Perry syndrome (PS) caused by DCTN1 gene mutation is clinically characterized by autosom...
The molecular motor dynein and its associated regulatory subunit dynactin have been implicated in se...
Aim: Missense mutations of dynactin subunit p150Glued have been associated with multiple neurodegene...
Mutations in the Dynactin 1 (DCTN1) gene have been demonstrated to result in various neurodegenerati...
In this issue of Neuron, work from Moughamian and Holzbaur (2012) and Lloyd et al. (2012) reveals a ...
Sequence variants in exon 2 of the Dynactin-1 gene (DCTN1) have been reported as causative of Perry ...
A novel cosegregating splice site variant in the Dynactin-1 (DCTN1) gene was discovered by Next Gene...
The human dynactin 1 gene (DCTN1) is positioned on chromosome 2p13, the candidate region for various...
Inherited peripheral neuropathies (IPNs) are a clinically and genetically heterogeneous group of dis...
BACKGROUND: Myoclonus-dystonia (M-D) is a hyperkinetic movement disorder with predominant myoclonic ...
peer reviewedParkinson's disease (PD) is characterized by selective degeneration of neurons in the s...
The identification of genetic causes for Mendelian disorders has been based on the collection of mul...