Friedreich's ataxia (FRDA) is an autosomal recessive, degenerative disease that involves
the central and peripheral nervous systems and the heart. A gene, X25, was identified in the …

Amyotrophic lateral sclerosis (ALS) is a late-onset neurodegenerative disorder resulting
from motor neuron death. Approximately 10% of cases are familial (FALS), typically with a …

To elucidate the genetic architecture of amyotrophic lateral sclerosis (ALS) and find
associated loci, we assembled a custom imputation reference panel from whole-genome …

DELETIONS of muscle mitochondrial DNA (mtDNA) have recently been found in patients
with mitochondrial myopathy1–3. However, as most of the described cases were sporadic …

Exome sequencing is an effective strategy for identifying human disease genes. However,
this methodology is difficult in late-onset diseases where limited availability of DNA from …

Expansions of an intronic GAA repeat reduce the expression of frataxin and cause
Friedreich's ataxia (FRDA), an autosomal recessive neurodegenerative disease. Frataxin is …

Autosomal dominant spinocerebellar ataxias (SCAs) are genetically heterogeneous
neurological disorders characterized by cerebellar dysfunction mostly due to Purkinje cell …

To identify genetic factors contributing to amyotrophic lateral sclerosis (ALS), we conducted
whole-exome analyses of 1,022 index familial ALS (FALS) cases and 7,315 controls. In a …

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with a lifetime risk
of one in 350 people and an unmet need for disease-modifying therapies. We conducted a …

Objective Autosomal recessive pathogenic variants of the SLC13A5 gene are associated
with severe neonatal epilepsy, developmental delay, and tooth hypoplasia/hypodontia. We …