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Genetics

D-Index
66
Citations
16090
World Ranking
2613
National Ranking
44

Overview

Sandra D'Alfonso is affiliated with the University of Eastern Piedmont Amadeo Avogadro in Italy. Their research focuses primarily on medicine, with particular expertise in neurology and genetics. Throughout their career, D'Alfonso has contributed extensively to the study of neurological disorders, particularly amyotrophic lateral sclerosis (ALS) and multiple sclerosis.

Their work covers several main fields of study: medicine and biochemistry, genetics, and molecular biology. Within these, their subfields of expertise include neurology, genetics, molecular biology, pathology and forensic medicine, and immunology.

D'Alfonso's research topics prominently feature amyotrophic lateral sclerosis research, neurogenetic and muscular disorders, multiple sclerosis research studies, neurological diseases and metabolism, Parkinson's disease mechanisms and treatments, Alzheimer's disease research and treatments, and the genomics of rare diseases.

The scientist has published articles in various venues, frequently appearing in the following journals and publications:

  • Neurology
  • Journal of Neurology
  • Genes
  • Nature Genetics
  • Journal of Neurology Neurosurgery & Psychiatry

Several recent papers by D'Alfonso include:

  • Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology, 2021, Nature Genetics
  • Locus for severity implicates CNS resilience in progression of multiple sclerosis, 2023, Nature
  • ALS phenotype is influenced by age, sex, and genetics, 2020, Neurology
  • Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis, 2020, Neuron
  • Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis, 2021, JAMA Neurology

Their frequent co-authors include:

  • Lucia Corrado
  • Letizia Mazzini
  • Adriano Chiò
  • Andrea Calvo
  • Antonio Canosa

Best Publications

  • Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis

    Stephen Sawcer;Garrett Hellenthal;Matti Pirinen;Chris C. A. Spencer

  • Cytokine gene polymorphism in human disease: on-line databases.

    J Bidwell;L Keen;G Gallagher;R Kimberly

  • Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

    Aude Nicolas;Kevin P. Kenna;Alan E. Renton;Alan E. Renton;Nicola Ticozzi

  • Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

    Wouter van Rheenen;Aleksey Shatunov;Annelot M. Dekker;Russell L. McLaughlin

  • Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus

    Sergey V. Kozyrev;Anna Karin Abelson;Jerome Wojcik;Ammar Zaghlool

  • Class II HLA interactions modulate genetic risk for multiple sclerosis

    L Moutsianas;L Jostins;A H Beecham;A T Dilthey

  • Overexpression of the Cytokine BAFF and Autoimmunity Risk

    Maristella Steri;Valeria Orrù;M. Laura Idda;Maristella Pitzalis

  • Cytokine gene polymorphism in human disease: on-line databases, Supplement 1

    J Bidwell;L Keen;G Gallagher;R Kimberly

  • Transancestral mapping and genetic load in systemic lupus erythematosus

    Carl D. Langefeld;Hannah C. Ainsworth;Deborah S. Cunninghame Graham;Jennifer A. Kelly

  • Conversion from clinically isolated syndrome to multiple sclerosis: A large multicentre study

    J. Kuhle;G. Disanto;R. Dobson;R. Adiutori

  • Cytokine gene polymorphism in human disease: on-line databases, supplement 2.

    N Haukim;J L Bidwell;A J P Smith;L J Keen

  • High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis.

    Lucia Corrado;A. Ratti;C. Gellera;E. Buratti

  • Functional analysis of a new polymorphism in the human TNF alpha gene promoter.

    F. Pociot;S. D'alfonso;S. Compasso;R. Scorza

  • Mutations of FUS gene in sporadic amyotrophic lateral sclerosis

    Lucia Corrado;Roberto Del Bo;Barbara Castellotti;Antonia Ratti

  • The multistep hypothesis of ALS revisited: The role of genetic mutations

    Adriano Chiò;Letizia Mazzini;Sandra D'Alfonso;Lucia Corrado

  • STAT4 associates with systemic lupus erythematosus through two independent effects that correlate with gene expression and act additively with IRF5 to increase risk

    Anna-Karin Abelson;Angélica Maria Delgado-Vega;Sergey V Kozyrev;Elena Sánchez

  • Replication of recently identified systemic lupus erythematosus genetic associations: a case–control study

    Marian Suarez-Gestal;Manuel Calaza;Emoeke Endreffy;Rudolf Pullmann

  • Genetic association of miRNA-146a with systemic lupus erythematosus in Europeans through decreased expression of the gene

    S. E. Lofgren;J. Frostegard;Lennart Truedsson;B. A. Pons-Estel

  • Common and rare variant association analyses in Amyotrophic Lateral Sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

    Wouter van Rheenen;Rick A. A. van der Spek;Mark K. Bakker;Joke J. F. A. van Vugt

  • Genome-Wide Analyses Identify KIF5A as a Novel ALS Gene

    Aude Nicolas;Kevin P. Kenna;Alan E. Renton;Nicola Ticozzi

Frequent Co-Authors

Marta E. Alarcón-Riquelme
Marta E. Alarcón-Riquelme University of Granada
Torsten Witte
Torsten Witte Hannover Medical School
Adriano Chiò
Adriano Chiò University of Turin
An Goris
An Goris KU Leuven
Stephen Sawcer
Stephen Sawcer University of Cambridge
Daniela Galimberti
Daniela Galimberti University of Milan
Hanne F. Harbo
Hanne F. Harbo Oslo University Hospital
Bernardo A. Pons-Estel
Bernardo A. Pons-Estel Allegheny Health Network
Giancarlo Comi
Giancarlo Comi Vita-Salute San Raffaele University
David A. Hafler
David A. Hafler Yale University

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