Add to ORKGBackground: The Neuronal Ceroid Lipofuscinoses (NCL) comprise at least nine progressive neurodegenerative genetic disorders. Kufs disease, an adult-onset form of NCL may be recessively or dominantly inherited. Our study aimed to identify genetic mutations associated with autosomal dominant Kufs disease (ADKD). Methodology and Principal Findings: We have studied the family first reported with this phenotype in the 1970s, the Parr
Smith KR, Dahl H-HM, Canafoglia L, et al. Cathepsin F mutations cause Type B Kufs disease, an adult-...
AbstractThe neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative disorde...
AbstractThe neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative disorde...
Background: The Neuronal Ceroid Lipofuscinoses (NCL) comprise at least nine progressive neurodegener...
The Neuronal Ceroid Lipofuscinoses (NCL) comprise at least nine progressive neurodegenerative geneti...
The molecular basis of Kufs disease is unknown, whereas a series of genes accounting for most of the...
The Neuronal Ceroid Lipofuscinoses (NCL) comprise at least nine progressive neurodegenerative geneti...
The molecular basis of Kufs disease is unknown, whereas a series of genes accounting for most of the...
The molecular basis of Kufs disease is unknown, whereas a series of genes accounting for most of the...
Kufs disease is the major adult form of neuronal ceroid lipofuscinosis, but is rare and difficult to...
Objective: To investigate the molecular basis of a Belgian family with autosomal recessive adult-ons...
peer reviewedOBJECTIVE: To investigate the molecular basis of a Belgian family with autosomal recess...
OBJECTIVE: Neuronal ceroid-lipofuscinoses are a heterogeneous group of inherited disorders in which ...
Kufs disease is the major adult form of neuronal ceroid lipofuscinosis, but is rare and difficult to...
Introduction: Adult-onset neuronal ceroid lipofuscinoses (ANCL) are a group of rare inherited neurod...
Smith KR, Dahl H-HM, Canafoglia L, et al. Cathepsin F mutations cause Type B Kufs disease, an adult-...
AbstractThe neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative disorde...
AbstractThe neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative disorde...
Background: The Neuronal Ceroid Lipofuscinoses (NCL) comprise at least nine progressive neurodegener...
The Neuronal Ceroid Lipofuscinoses (NCL) comprise at least nine progressive neurodegenerative geneti...
The molecular basis of Kufs disease is unknown, whereas a series of genes accounting for most of the...
The Neuronal Ceroid Lipofuscinoses (NCL) comprise at least nine progressive neurodegenerative geneti...
The molecular basis of Kufs disease is unknown, whereas a series of genes accounting for most of the...
The molecular basis of Kufs disease is unknown, whereas a series of genes accounting for most of the...
Kufs disease is the major adult form of neuronal ceroid lipofuscinosis, but is rare and difficult to...
Objective: To investigate the molecular basis of a Belgian family with autosomal recessive adult-ons...
peer reviewedOBJECTIVE: To investigate the molecular basis of a Belgian family with autosomal recess...
OBJECTIVE: Neuronal ceroid-lipofuscinoses are a heterogeneous group of inherited disorders in which ...
Kufs disease is the major adult form of neuronal ceroid lipofuscinosis, but is rare and difficult to...
Introduction: Adult-onset neuronal ceroid lipofuscinoses (ANCL) are a group of rare inherited neurod...
Smith KR, Dahl H-HM, Canafoglia L, et al. Cathepsin F mutations cause Type B Kufs disease, an adult-...
AbstractThe neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative disorde...
AbstractThe neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative disorde...