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Article

Analysis of the C9orf72 gene in spinal muscular atrophy patients

Publicated to:Amyotrophic Lateral Sclerosis And Frontotemporal Degeneration. 15 (7-8): 563-568 - 2014-12-01 15(7-8), DOI: 10.3109/21678421.2014.929148

Authors: Alias, Laura; Bernal, Sara; Barcelo, Maria J; Martinez-Hernandez, Rebeca; Martinez, Elisabeth; Baiget, Montserrat; Tizzano, Eduardo F

Affiliations

Centro de Investigación Biomédica en Red de Enfermedades Raras , Hospital de La Santa Creu I Sant Pau - Author
Centro de Investigación Biomédica en Red de Enfermedades Raras , Hospital Universitari Vall d'Hebron , Hospital de La Santa Creu I Sant Pau - Author
CIBERER U705, Barcelona, Spain - Author
Hosp Santa Creu & Sant Pau, Serv Genet, Barcelona, Spain - Author
Hosp Valle De Hebron, Dept Clin & Mol Genet, Barcelona, Spain - Author
Hospital de la Santa Creu i Sant Pau - Author
IIB St Pau, Barcelona, Spain - Author
Institut dInvestigació Biomèdica Sant Pau (IIB Sant Pau) , Hospital de La Santa Creu I Sant Pau - Author
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Abstract

Keywords
amyotrophic lateral sclerosischromosome 9 open reading frame 72 gene (c9orf72)cognitive impairmentexpansionfrontotemporal dementiahexanucleotide repeatmessenger-rnamotor-neuron smnproteinrepeat-primed pcrsmn2 copy numbersporadic alsAmyotrophic lateral sclerosisAmyotrophic-lateral-sclerosisC9orf72 proteinC9orf72 protein, humanChi-square distributionChromosome 9 open reading frame 72 gene (c9orf72)FemaleGene frequencyGenotypeHumansMaleMuscular atrophy, spinalProteinsRepeat-primed pcrRepetitive sequences, nucleic acidSmn1 protein, humanSmn2 protein, humanSpinal muscular atrophySurvival of motor neuron 1 proteinSurvival of motor neuron 2 protein

Quality index

Bibliometric impact. Analysis of the contribution and dissemination channel

The work has been published in the journal Amyotrophic Lateral Sclerosis And Frontotemporal Degeneration due to its progression and the good impact it has achieved in recent years, according to the agency Scopus (SJR), it has become a reference in its field. In the year of publication of the work, 2014, it was in position , thus managing to position itself as a Q1 (Primer Cuartil), in the category Medicine (Miscellaneous).

Independientemente del impacto esperado determinado por el canal de difusión, es importante destacar el impacto real observado de la propia aportación.

Según las diferentes agencias de indexación, el número de citas acumuladas por esta publicación hasta la fecha 2025-05-11:

  • WoS: 2
  • Scopus: 2
  • OpenCitations: 2
Impact and social visibility

From the perspective of influence or social adoption, and based on metrics associated with mentions and interactions provided by agencies specializing in calculating the so-called "Alternative or Social Metrics," we can highlight as of 2025-05-11:

  • The use of this contribution in bookmarks, code forks, additions to favorite lists for recurrent reading, as well as general views, indicates that someone is using the publication as a basis for their current work. This may be a notable indicator of future more formal and academic citations. This claim is supported by the result of the "Capture" indicator, which yields a total of: 18 (PlumX).