Marka van Blitterswijk

Associate Professor

Mayo Clinic

United States

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Marka van Blitterswijk is an Associate Professor at Mayo Clinic in the United States. Her research focuses on neurodegenerative diseases, particularly exploring the genetic and molecular mechanisms underlying conditions such as frontotemporal dementia and amyotrophic lateral sclerosis. Recent publications include investigations into brain transcriptomic signatures, pathogenic repeat expansions, and biomarkers for disease prognosis.

Articles (10)

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2021

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2021

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2021

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2021

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2021

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2021

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2020

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2020

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2020

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2020

Collaborators (24)

Harro Seelaar

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Marka van Blitterswijk

Research Interests

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About

Articles (10)

Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.

<i>C9orf72</i>-derived arginine-containing dipeptide repeats associate with axonal transport machinery and impede microtubule-based motility.

Shared brain transcriptomic signature in TDP-43 type A FTLD patients with or without GRN mutations.

Long-read targeted sequencing uncovers clinicopathological associations for C9orf72-linked diseases.

Unravelling the clinical spectrum and the role of repeat length in C9ORF72 repeat expansions

Preface: promoting research in PLS: current knowledge and future challenges.

Validation of serum neurofilaments as prognostic and potential pharmacodynamic biomarkers for ALS.

Primary lateral sclerosis: consensus diagnostic criteria.

Elevated methylation levels, reduced expression levels, and frequent contractions in a clinical cohort of C9orf72 expansion carriers

Collaborators (24)

Harro Seelaar

Ashley Jones

Frank Baas

Jennifer Phillips-Cremins

Bradley Smith

Russell McLaughlin

Sandra D'Alfonso

Paola Caroppo

Paolo Volanti

Jaya Trivedi

Michael Sendtner

Viviana Pensato

Danny Miller

simon topp

Kelly Williams

Lyle Ostrow

Garth Nicholson

Marcella Zollino

Steven Boeynaems

Cyril Pottier

Stuart Pickering-Brown

Caroline Vance

Oleg Butovsky

Francesca Brett

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