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Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis
- D. R. Rosen, T. Siddique, +30 authors R. Brown
- Biology, Medicine
- Nature
- 1 March 1993
AMYOTROPHIC lateral sclerosis (ALS) is a degenerative disorder of motor neurons in the cortex, brainstem and spinal cord1,2. Its cause is unknown and it is uniformly fatal, typically within five… Expand
Mutations in the FUS/TLS Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis
- T. J. Kwiatkowski, D. A. Bosco, +23 authors R. Brown
- Biology, Medicine
- Science
- 27 February 2009
Amyotrophic lateral sclerosis (ALS) is a fatal degenerative motor neuron disorder. Ten percent of cases are inherited; most involve unidentified genes. We report here 13 mutations in the fused in… Expand
Mutations in UBQLN2 cause dominant X-linked juvenile and adult onset ALS and ALS/dementia
- H. Deng, W. Chen, +20 authors T. Siddique
- Biology, Medicine
- Nature
- 4 August 2011
Amyotrophic lateral sclerosis (ALS) is a paralytic and usually fatal disorder caused by motor-neuron degeneration in the brain and spinal cord. Most cases of ALS are sporadic but about 5–10% are… Expand
SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis.
- F. Fecto, J. Yan, +13 authors T. Siddique
- Medicine
- Archives of neurology
- 14 November 2011
BACKGROUND
The SQSTM1 gene encodes p62, a major pathologic protein involved in neurodegeneration.
OBJECTIVE
To examine whether SQSTM1 mutations contribute to familial and sporadic amyotrophic… Expand
Pathological TDP‐43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations
- I. Mackenzie, E. Bigio, +17 authors J. Trojanowski
- Medicine
- Annals of neurology
- 1 May 2007
Amyotrophic lateral sclerosis (ALS) is a common, fatal motor neuron disorder with no effective treatment. Approximately 10% of cases are familial ALS (FALS), and the most common genetic abnormality… Expand
The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis
- Y. Yang, A. Hentati, +14 authors T. Siddique
- Biology, Medicine
- Nature Genetics
- 22 October 2001
Amyotrophic lateral sclerosis (ALS) and primary lateral sclerosis (PLS) are neurodegenerative conditions that affect large motor neurons of the central nervous system. We have identified a familial… Expand
Presence of dendritic cells, MCP‐1, and activated microglia/macrophages in amyotrophic lateral sclerosis spinal cord tissue
- J. Henkel, Joseph I Engelhardt, +7 authors S. Appel
- Biology, Medicine
- Annals of neurology
- 1 February 2004
Dendritic cells are potent antigen‐presenting cells that initiate and amplify immune responses. To determine whether dendritic cells participate in inflammatory reactions in amyotrophic lateral… Expand
Conversion to the amyotrophic lateral sclerosis phenotype is associated with intermolecular linked insoluble aggregates of SOD1 in mitochondria.
- H. Deng, Y. Shi, +11 authors T. Siddique
- Chemistry, Medicine
- Proceedings of the National Academy of Sciences…
- 2 May 2006
Twenty percent of the familial form of amyotrophic lateral sclerosis (ALS) is caused by mutations in the Cu, Zn-superoxide dismutase gene (SOD1) through the gain of a toxic function. The nature of… Expand
Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3.
- C. Vance, A. Al-Chalabi, +10 authors C. Shaw
- Biology, Medicine
- Brain : a journal of neurology
- 1 April 2006
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are both relentlessly progressive and ultimately fatal neurological disorders. ALS is familial in approximately 10% of cases and… Expand
FUS‐immunoreactive inclusions are a common feature in sporadic and non‐SOD1 familial amyotrophic lateral sclerosis
- H. Deng, H. Zhai, +10 authors T. Siddique
- Biology, Medicine
- Annals of neurology
- 1 June 2010
Amyotrophic lateral sclerosis (ALS) is a fatal disorder of motor neuron degeneration. Most cases of ALS are sporadic (SALS), but about 5 to 10% of ALS cases are familial (FALS). Recent studies have… Expand