Abnormal accumulation of brain iron has been detected in various neurodegenerative
diseases, but the contribution of iron overload to pathology remains unclear. In a group of …

Hereditary spastic paraplegia comprises a wide and heterogeneous group of inherited
neurodegenerative and neurodevelopmental disorders resulting from primary retrograde …

The epidermis and in particular its outermost layer the stratum corneum provides terrestrial
vertebrates with a pivotal defensive barrier against water loss, xenobiotics and harmful …

Objective Early‐onset epileptic encephalopathies have been associated with de novo
mutations of numerous ion channel genes. We employed techniques of modern translational …

Autosomal‐dominant spinocerebellar ataxias, autosomal‐recessive spinocerebellar ataxias,
and hereditary spastic paraplegias have traditionally been designated in separate …

Neurodegeneration with brain iron accumulation (NBIA) encompasses a group of inherited
disorders that share the clinical features of an extrapyramidal movement disorder …

Introduction The inability of some seriously and chronically ill individuals to receive a
definitive diagnosis represents an unmet medical need. In 2008, the NIH Undiagnosed …

BEACH (named after 'Beige and Chediak‐Higashi') is a conserved∼ 280 residue domain,
present in nine human BEACH domain containing proteins (BDCPs). Most BDCPs are large …

Hereditary spastic paraplegias are a heterogeneous group of neurodegenerative disorders,
clinically classified in pure and complex forms. Genetically, more than 70 different forms of …

Genome assembly methods produce haplotype phase ambiguous assemblies due to
limitations in current sequencing technologies. Determining the haplotype phase of an …