Mutation analysis and immunopathological studies of PFN1 in familial and sporadic amyotrophic lateral sclerosis

[1]  J. Landers,et al.  A novel phosphorylation site mutation in profilin 1 revealed in a large screen of US, Nordic, and German amyotrophic lateral sclerosis/frontotemporal dementia cohorts , 2013, Neurobiology of Aging.

[2]  A. Brice,et al.  Mutations in the PFN1 gene are not a common cause in patients with amyotrophic lateral sclerosis and frontotemporal lobar degeneration in France , 2013, Neurobiology of Aging.

[3]  G. Comi,et al.  Screening of the PFN1 gene in sporadic amyotrophic lateral sclerosis and in frontotemporal dementia , 2013, Neurobiology of Aging.

[4]  V. Meininger,et al.  Mutation analysis of PFN1 in familial amyotrophic lateral sclerosis patients , 2013, Neurobiology of Aging.

[5]  G. Rouleau,et al.  UBQLN2/ubiquilin 2 mutation and pathology in familial amyotrophic lateral sclerosis , 2012, Neurobiology of Aging.

[6]  M. Strong,et al.  Co-aggregation of RNA binding proteins in ALS spinal motor neurons: evidence of a common pathogenic mechanism , 2012, Acta Neuropathologica.

[7]  S. C. Chafe,et al.  Mutations in the Profilin 1 Gene Cause Familial Amyotrophic Lateral Sclerosis , 2012, Nature.

[8]  Janel O. Johnson,et al.  Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study , 2012, The Lancet Neurology.

[9]  Bruce L. Miller,et al.  Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS , 2011, Neuron.

[10]  David Heckerman,et al.  A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD , 2011, Neuron.

[11]  J. Haines,et al.  Mutations in UBQLN2 cause dominant X-linked juvenile and adult onset ALS and ALS/dementia , 2011, Nature.

[12]  Xun Hu,et al.  Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6 , 2009, Science.

[13]  J L Haines,et al.  Supporting Online Material Materials and Methods Figs. S1 to S7 Tables S1 to S4 References Mutations in the Fus/tls Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis , 2022 .

[14]  Xun Hu,et al.  TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis , 2008, Science.

[15]  Bruce L. Miller,et al.  Ubiquitinated TDP-43 in Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis , 2006, Science.

[16]  M. Swash,et al.  El Escorial revisited: Revised criteria for the diagnosis of amyotrophic lateral sclerosis , 2000, Amyotrophic lateral sclerosis and other motor neuron disorders : official publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases.

[17]  J. Haines,et al.  Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis , 1993, Nature.

[18]  E. Korn,et al.  Acanthamoeba profilin interacts with G-actin to increase the rate of exchange of actin-bound adenosine 5'-triphosphate. , 1980, Biochemistry.

[19]  N. Dokholyan,et al.  The Complex Molecular Biology of Amyotrophic Lateral Sclerosis (als) , 2022 .