[HTML][HTML] Phase separation and neurodegenerative diseases: a disturbance in the force
A Zbinden, M Pérez-Berlanga, P De Rossi… - Developmental cell, 2020 - cell.com
Protein aggregation is the main hallmark of neurodegenerative diseases. Many proteins
found in pathological inclusions are known to undergo liquid-liquid phase separation, a …
found in pathological inclusions are known to undergo liquid-liquid phase separation, a …
ALS genetics: gains, losses, and implications for future therapies
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder caused by the loss
of motor neurons from the brain and spinal cord. The ALS community has made remarkable …
of motor neurons from the brain and spinal cord. The ALS community has made remarkable …
Essential tremor
Essential tremor (ET) is one of the most common movement disorders, with a reported> 60
million affected individuals worldwide. The definition and underlying pathophysiology of ET …
million affected individuals worldwide. The definition and underlying pathophysiology of ET …
Consensus Statement on the classification of tremors. from the task force on tremor of the International Parkinson and Movement Disorder Society
Background Consensus criteria for classifying tremor disorders were published by the
International Parkinson and Movement Disorder Society in 1998. Subsequent advances with …
International Parkinson and Movement Disorder Society in 1998. Subsequent advances with …
The promise of whole-exome sequencing in medical genetics
Massively parallel DNA-sequencing systems provide sequence of huge numbers of different
DNA strands at once. These technologies are revolutionizing our understanding in medical …
DNA strands at once. These technologies are revolutionizing our understanding in medical …
Expansion of GGC repeat in the human-specific NOTCH2NLC gene is associated with essential tremor
QY Sun, Q Xu, Y Tian, ZM Hu, LX Qin, JX Yang… - Brain, 2020 - academic.oup.com
Essential tremor is one of the most common movement disorders. Despite its high
prevalence and heritability, the genetic aetiology of essential tremor remains elusive. Up to …
prevalence and heritability, the genetic aetiology of essential tremor remains elusive. Up to …
The role of FUS gene variants in neurodegenerative diseases
H Deng, K Gao, J Jankovic - Nature Reviews Neurology, 2014 - nature.com
The neurodegenerative diseases are a diverse group of disorders characterized by
progressive loss of specific groups of neurons. These diseases affect different populations …
progressive loss of specific groups of neurons. These diseases affect different populations …
Essential tremor pathology: neurodegeneration and reorganization of neuronal connections
Essential tremor (ET) is the most common tremor disorder globally and is characterized by
kinetic tremor of the upper limbs, although other clinical features can also occur. Postmortem …
kinetic tremor of the upper limbs, although other clinical features can also occur. Postmortem …
TARDBP and FUS Mutations Associated with Amyotrophic Lateral Sclerosis: Summary and Update
S Lattante, GA Rouleau, E Kabashi - Human mutation, 2013 - Wiley Online Library
Mutations in the TAR DNA B inding P rotein gene (TARDBP), encoding the protein TDP‐43,
were identified in amyotrophic lateral sclerosis (ALS) patients. Interestingly, TDP‐43 positive …
were identified in amyotrophic lateral sclerosis (ALS) patients. Interestingly, TDP‐43 positive …
Mitochondrial serine protease HTRA2 p. G399S in a kindred with essential tremor and Parkinson disease
H Unal Gulsuner, S Gulsuner… - Proceedings of the …, 2014 - National Acad Sciences
Essential tremor is one of the most frequent movement disorders of humans and can be
associated with substantial disability. Some but not all persons with essential tremor develop …
associated with substantial disability. Some but not all persons with essential tremor develop …