Neurodegeneration with brain iron accumulation (NBIA) is a group of neurodegenerative
diseases that are typically caused by a monogenetic mutation, leading to development of …

NBIA (Neurodegeneration with brain iron accumulation) is a group of inherited neurologic
disorders characterized by marked genetic heterogeneity, in which iron atypical …

Background Mitochondrial membrane protein‐associated neurodegeneration (MPAN) is
caused by pathogenic sequence variants in C19orf12. Autosomal recessive inheritance has …

Background Mitochondrial membrane protein‐associated neurodegeneration (MPAN) is
caused by mutations in the C19orf12 gene. MPAN typically appears in the first two decades …

Syndromes with neurodegeneration with brain iron accumulation (NBIA) are a group of
neurodegenerative disorders associated with abnormalities in brain iron metabolism and …

The importance of defining cell-type-specific genes is well acknowledged. Technological
advances facilitate high-resolution sequencing of single cells, but practical challenges …

Introduction Mutations in the C19orf12 gene cause mitochondrial membrane protein
associated neurodegeneration (MPAN), an autosomal recessive form of neurodegeneration …

Neurodegeneration with brain iron accumulation (NBIA) comprises a clinically and
genetically heterogeneous group of neurodegenerative diseases characterized by …

Young onset dementias present significant diagnostic challenges. We present the case of a
35-year-old Kuwaiti man with social withdrawal, drowsiness, irritability, anxiety, aphasia …

Mitochondrial membrane protein-associated neurodegeneration (MPAN) is characterized
initially by gait changes followed by progressive spastic paresis, progressive dystonia …