Add to ORKGOBJECTIVE. To search for brain abnormalities in patients with Paget's disease of the bone (PBD) carrying mutations in SQSTM1 gene using voxel-based morphometry.BACKGROUND. Recently, mutations in the sequestosome 1 (SQSTM1) gene, which encodes the autophagic p62 protein, have been described in patients with Frontotemporal Lobar Degeneration (FTLD) and/or Amyotrophic Lateral Sclerosis (ALS). SQSTM1 mutations have been described in approximately 25% of patients with familial PBD. Neurologic involvement in these patients have not yet been investigated.METHODS. 12 newly diagnosed patients with familial PBD (5 males, 7 females, mean age ± SD: 59 ± 8 yrs) carrying SQSTM1 gene mutations (E396X, M404V, G425R), and 12 healthy controls were recruited ...
Mutations in the gene coding for Sequestosome 1 (SQSTM1) have been genetically associated with amyot...
Background. Paget\u27s Disease of Bone (PDB) is an exaggerated bone remodeling disease that results ...
ObjectiveMAPT mutations typically cause behavioral variant frontotemporal dementia with or without p...
Objective: There is increasing evidence that common genetic risk factors underlie frontotemporal lob...
Mutations in SQSTM1 are strongly associated with Paget's disease of bone (PDB), but little is known ...
Mutations in SQSTM1 are strongly associated with Paget's disease of bone (PDB), but little is known ...
International audienceMutation screening of the SQSTM1 gene in 94 French patients with PDB revealed ...
Mutations in the gene coding for Sequestosome 1 (SQSTM1) have been genetically associated with amyot...
Paget's disease of bone (PDB) is a bone disorder characterized by an increase in bone turnover in a ...
Data from exome sequencing show that a proportion of individuals in whom a genetic disorder is suspe...
Paget's disease of bone (PDB) is a common disorder characterized by focal abnormalities of increased...
Mutations in the gene coding for Sequestosome 1 (SQSTM1) have been genetically associated with amyot...
Even though SQSTM1 gene mutations have been identified in a consistent number of patients, the etiol...
Frontotemporal dementia includes a large spectrum of neurodegenerative disorders. SQSTM1, coding for...
Mutations in the gene coding for Sequestosome 1 (SQSTM1) have been genetically associated with amyot...
Background. Paget\u27s Disease of Bone (PDB) is an exaggerated bone remodeling disease that results ...
ObjectiveMAPT mutations typically cause behavioral variant frontotemporal dementia with or without p...
Objective: There is increasing evidence that common genetic risk factors underlie frontotemporal lob...
Mutations in SQSTM1 are strongly associated with Paget's disease of bone (PDB), but little is known ...
Mutations in SQSTM1 are strongly associated with Paget's disease of bone (PDB), but little is known ...
International audienceMutation screening of the SQSTM1 gene in 94 French patients with PDB revealed ...
Mutations in the gene coding for Sequestosome 1 (SQSTM1) have been genetically associated with amyot...
Paget's disease of bone (PDB) is a bone disorder characterized by an increase in bone turnover in a ...
Data from exome sequencing show that a proportion of individuals in whom a genetic disorder is suspe...
Paget's disease of bone (PDB) is a common disorder characterized by focal abnormalities of increased...
Mutations in the gene coding for Sequestosome 1 (SQSTM1) have been genetically associated with amyot...
Even though SQSTM1 gene mutations have been identified in a consistent number of patients, the etiol...
Frontotemporal dementia includes a large spectrum of neurodegenerative disorders. SQSTM1, coding for...
Mutations in the gene coding for Sequestosome 1 (SQSTM1) have been genetically associated with amyot...
Background. Paget\u27s Disease of Bone (PDB) is an exaggerated bone remodeling disease that results ...
ObjectiveMAPT mutations typically cause behavioral variant frontotemporal dementia with or without p...