E Vegeto, A Villa, S Della Torre, V Crippa… - Endocrine …, 2020 - academic.oup.com
Neurodegenerative diseases (NDs) are a wide class of disorders of the central nervous system (CNS) with unknown etiology. Several factors were hypothesized to be involved in …
AZ Herskovits, L Guarente - Cell research, 2013 - nature.com
Sirtuin enzymes are a family of highly conserved protein deacetylases that depend on nicotinamide adenine dinucleotide (NAD+) for their activity. There are seven sirtuins in …
CA Stoyas, AR La Spada - Handbook of clinical neurology, 2018 - Elsevier
Throughout the genome, unstable tandem nucleotide repeats can expand to cause a variety of neurologic disorders. Expansion of a CAG triplet repeat within a coding exon gives rise to …
Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy's disease, is a rare, X- linked hereditary lower motor neuron disease, characterized by progressive muscular …
Spinal and bulbar muscular atrophy (SBMA) is an X-linked, adult-onset neuromuscular condition caused by an abnormal polyglutamine (polyQ) tract expansion in androgen …
T Takeuchi, Y Nagai - Brain sciences, 2017 - mdpi.com
The polyglutamine (polyQ) diseases, such as Huntington's disease and several types of spinocerebellar ataxias, are a group of inherited neurodegenerative diseases that are …
M Katsuno, F Tanaka, H Adachi, H Banno… - Progress in …, 2012 - Elsevier
Spinal and bulbar muscular atrophy (SBMA) is a late-onset motor neuron disease characterized by slowly progressive muscle weakness and atrophy. During the last two …
C Quinn, L Elman - CONTINUUM: Lifelong Learning in Neurology, 2020 - journals.lww.com
Amyotrophic Lateral Sclerosis and Other Motor Neuron Disease... : CONTINUUM: Lifelong Learning in Neurology Account Register Activate Subscription Help Subscribe American …
P Fratta, N Nirmalananthan, L Masset, I Skorupinska… - Neurology, 2014 - AAN Enterprises
Objectives: To characterize the clinical and genetic features of spinal bulbar muscular atrophy (SBMA), a rare neurodegenerative disorder caused by the expansion of a CAG …