A novel phosphorylation site mutation in profilin 1 revealed in a large screen of US, Nordic, and German amyotrophic lateral sclerosis/frontotemporal dementia cohorts. (Q55056826)

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English	A novel phosphorylation site mutation in profilin 1 revealed in a large screen of US, Nordic, and German amyotrophic lateral sclerosis/frontotemporal dementia cohorts.	scientific article

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17 February 2020

A novel phosphorylation site mutation in profilin 1 revealed in a large screen of US, Nordic, and German amyotrophic lateral sclerosis/frontotemporal dementia cohorts (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23141414%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

amyotrophic lateral sclerosis

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phosphorylation

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frontotemporal dementia

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based on heuristic

inferred from title

1

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17 February 2020

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John E Landers

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17 February 2020

Albert C. Ludolph

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Albert C Ludolph

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17 February 2020

author name string

Naji Rizik

3

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17 February 2020

Alexander E Volk

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17 February 2020

Chizuru Akimoto

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17 February 2020

Anna Birve

6

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17 February 2020

Annemarie Hübers

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17 February 2020

Pamela J Keagle

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17 February 2020

Katarzyna Piotrowska

9

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17 February 2020

Rayomand Press

10

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17 February 2020

Peter Munch Andersen

11

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17 February 2020

Jochen H Weishaupt

13

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17 February 2020

publication date

8 November 2012

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17 February 2020

Neurobiology of Aging

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17 February 2020

34

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17 February 2020

6

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17 February 2020

1708.e1-6

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17 February 2020

A role for polyproline motifs in the spinal muscular atrophy protein SMN. Profilins bind to and colocalize with smn in nuclear gems

1 reference

https://pubmed.ncbi.nlm.nih.gov/23141414

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/23141414

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

?True? sporadic ALS associated with a novel SOD-1 mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/23141414

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The role of profilin complexes in cell motility and other cellular processes

1 reference

https://pubmed.ncbi.nlm.nih.gov/23141414

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A frameshift deletion in peripherin gene associated with amyotrophic lateral sclerosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/23141414

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS.

1 reference

https://pubmed.ncbi.nlm.nih.gov/23141414

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prevalence of SOD1 mutations in the Italian ALS population

1 reference

https://pubmed.ncbi.nlm.nih.gov/23141414

12 December 2020

based on heuristic

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TDP-43 A315T mutation in familial motor neuron disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/23141414

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/23141414

12 December 2020

based on heuristic

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TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/23141414

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

SOD1 gene mutations in ALS patients from British Columbia, Canada: clinical features, neurophysiology and ethical issues in management

1 reference

https://pubmed.ncbi.nlm.nih.gov/23141414

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Phosphorylation of profilin by ROCK1 regulates polyglutamine aggregation

1 reference

https://pubmed.ncbi.nlm.nih.gov/23141414

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Heterozygous S44L missense change of the spastin gene in amyotrophic lateral sclerosis.

1 reference

https://pubmed.ncbi.nlm.nih.gov/23141414

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/23141414

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6

1 reference

https://pubmed.ncbi.nlm.nih.gov/23141414

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/23141414

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

De novo truncating FUS gene mutation as a cause of sporadic amyotrophic lateral sclerosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/23141414

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A de novo missense mutation of the FUS gene in a "true" sporadic ALS case

1 reference

https://pubmed.ncbi.nlm.nih.gov/23141414

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Proposed criteria for familial amyotrophic lateral sclerosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/23141414

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/23141414

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Amyotrophic lateral sclerosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/23141414

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS

1 reference

https://pubmed.ncbi.nlm.nih.gov/23141414

12 December 2020

based on heuristic

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A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

1 reference

https://pubmed.ncbi.nlm.nih.gov/23141414

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical genetics of amyotrophic lateral sclerosis: what do we really know?

1 reference

https://pubmed.ncbi.nlm.nih.gov/23141414

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Spinal muscular atrophy: the role of SMN in axonal mRNA regulation.

1 reference

https://pubmed.ncbi.nlm.nih.gov/23141414

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

ALS/FTD phenotype in two Sardinian families carrying both C9ORF72 and TARDBP mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/23141414

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evidence for an oligogenic basis of amyotrophic lateral sclerosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/23141414

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/23141414

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel TARDBP sequence variant and C9ORF72 repeat expansion in a family with frontotemporal dementia.

1 reference

https://pubmed.ncbi.nlm.nih.gov/23141414

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Comparison of sporadic and familial disease amongst 580 cases of motor neuron disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/23141414

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Natural history of amyotrophic lateral sclerosis in a database population Validation of a scoring system and a model for survival prediction

1 reference

https://pubmed.ncbi.nlm.nih.gov/23141414

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Variants of the heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/23141414

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

In mouse brain profilin I and profilin II associate with regulators of the endocytic pathway and actin assembly

1 reference

https://pubmed.ncbi.nlm.nih.gov/23141414

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.NEUROBIOLAGING.2012.10.009

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17 February 2020

PMC publication ID

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17 February 2020

PubMed publication ID

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17 February 2020

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