Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion
V Campuzano, L Montermini, MD Molto, L Pianese… - Science, 1996 - science.org
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 …
the central and peripheral nervous systems and the heart. A gene, X25, was identified in the …
Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis
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 …
from motor neuron death. Approximately 10% of cases are familial (FALS), typically with a …
Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis
W Van Rheenen, A Shatunov, AM Dekker… - Nature …, 2016 - nature.com
To elucidate the genetic architecture of amyotrophic lateral sclerosis (ALS) and find
associated loci, we assembled a custom imputation reference panel from whole-genome …
associated loci, we assembled a custom imputation reference panel from whole-genome …
An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region
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 …
with mitochondrial myopathy1–3. However, as most of the described cases were sporadic …
[PDF][PDF] Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS
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 …
this methodology is difficult in late-onset diseases where limited availability of DNA from …
The Friedreich's ataxia mutation confers cellular sensitivity to oxidant stress which is rescued by chelators of iron and calcium and inhibitors of apoptosis
J Yang, P Cavadini, C Gellera… - Human molecular …, 1999 - academic.oup.com
Expansions of an intronic GAA repeat reduce the expression of frataxin and cause
Friedreich's ataxia (FRDA), an autosomal recessive neurodegenerative disease. Frataxin is …
Friedreich's ataxia (FRDA), an autosomal recessive neurodegenerative disease. Frataxin is …
Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28
Autosomal dominant spinocerebellar ataxias (SCAs) are genetically heterogeneous
neurological disorders characterized by cerebellar dysfunction mostly due to Purkinje cell …
neurological disorders characterized by cerebellar dysfunction mostly due to Purkinje cell …
NEK1 variants confer susceptibility to amyotrophic lateral sclerosis
KP Kenna, PTC Van Doormaal, AM Dekker, N Ticozzi… - Nature …, 2016 - nature.com
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 …
whole-exome analyses of 1,022 index familial ALS (FALS) cases and 7,315 controls. In a …
[HTML][HTML] Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific …
W Van Rheenen, RAA Van Der Spek, MK Bakker… - Nature …, 2021 - nature.com
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 …
of one in 350 people and an unmet need for disease-modifying therapies. We conducted a …
Neonatal developmental and epileptic encephalopathy due to autosomal recessive variants in SLC13A5 gene
S Matricardi, P De Liso, E Freri, P Costa… - …, 2020 - Wiley Online Library
Objective Autosomal recessive pathogenic variants of the SLC13A5 gene are associated
with severe neonatal epilepsy, developmental delay, and tooth hypoplasia/hypodontia. We …
with severe neonatal epilepsy, developmental delay, and tooth hypoplasia/hypodontia. We …