Publications by authors named "Saskia Lassche"

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An up-to-date myopathologic characterisation of facioscapulohumeral muscular dystrophy type 1 muscle biopsies shows sarcolemmal complement membrane attack complex deposits and increased skeletal muscle regeneration.
Lisanne Hubregtse, Karlijn Bouman, Chéryane Lama, Saskia Lassche, Nicolas de Graaf

Neuromuscul Disord· March 2024

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KBTBD13 is an actin-binding protein that modulates muscle kinetics.
Josine M de Winter, Joery P Molenaar, Michaela Yuen, Robbert van der Pijl, Shengyi Shen, Saskia Lassche

J Clin Invest· February 2024

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The double homeodomain protein DUX4c is associated with regenerating muscle fibers and RNA-binding proteins.
Clothilde Claus, Moriya Slavin, Eugénie Ansseau, Céline Lancelot, Karimatou Bah, Saskia Lassche

Skelet Muscle· March 2023

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Assessment of PABPN1 nuclear inclusions on a large cohort of patients and in a human xenograft model of oculopharyngeal muscular dystrophy.
Fanny Roth, Jamila Dhiab, Alexis Boulinguiez, Hadidja-Rose Mouigni, Saskia Lassche

Acta Neuropathol· December 2022

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Facioscapulohumeral muscular dystrophy-Reproductive counseling, pregnancy, and delivery in a complex multigenetic disease.
Sanne C C Vincenten, Nienke Van Der Stoep, Aimée D C Paulussen, Karlien Mul, Umesh A Badrising, Saskia Lassche

Clin Genet· February 2022

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Facioscapulohumeral dystrophy transcriptome signatures correlate with different stages of disease and are marked by different MRI biomarkers.
Anita van den Heuvel, Saskia Lassche, Karlien Mul, Anna Greco, David San León Granado

Sci Rep· January 2022

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Correlation Between Quantitative MRI and Muscle Histopathology in Muscle Biopsies from Healthy Controls and Patients with IBM, FSHD and OPMD.
Saskia Lassche, Benno Küsters, Arend Heerschap, Maxime V P Schyns, Coen A C Ottenheijm

J Neuromuscul Dis· July 2021

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An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy.
Alistair T Pagnamenta, Rauan Kaiyrzhanov, Yaqun Zou, Sahar I Da'as, Reza Maroofian, Saskia Lassche

Brain· March 2021

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Reduced specific force in patients with mild and severe facioscapulohumeral muscular dystrophy.
Saskia Lassche, Nicol C Voermans, Tim Schreuder, Arend Heerschap, Benno Küsters

Muscle Nerve· January 2021

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Age-Associated Salivary MicroRNA Biomarkers for Oculopharyngeal Muscular Dystrophy.
Vered Raz, Rosemarie H M J M Kroon, Hailiang Mei, Muhammad Riaz, Henk Buermans, Saskia Lassche

Int J Mol Sci· August 2020

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Nerve ultrasound for distinguishing inflammatory neuropathy from amyotrophic lateral sclerosis: Not black and white.
Carola de Leeuw, Juerd Wijntjes, Saskia Lassche, Nens van Alfen

Muscle Nerve· June 2020

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Preserved single muscle fiber specific force in facioscapulohumeral muscular dystrophy.
Saskia Lassche, Nicol C Voermans, Robbert van der Pijl, Marloes van den Berg, Arend Heerschap

Neurology· March 2020

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KBTBD13 is an actin-binding protein that modulates muscle kinetics.
Josine M de Winter, Joery P Molenaar, Michaela Yuen, Robbert van der Pijl, Shengyi Shen, Saskia Lassche

J Clin Invest· February 2020

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Muscle fiber dysfunction contributes to weakness in inclusion body myositis.
Saskia Lassche, Anke Rietveld, Arend Heerschap, Hieronymus W van Hees, Maria Te Hopman

Neuromuscul Disord· June 2019

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Computer-aided detection of fasciculations and other movements in muscle with ultrasound: Development and clinical application.
Kaj Gijsbertse, Max Bakker, André Sprengers, Juerd Wijntjes, Saskia Lassche

Clin Neurophysiol· December 2018

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MRI-Guided Biopsy as a Tool for Diagnosis and Research of Muscle Disorders.
Saskia Lassche, Barbara H Janssen, Ties IJzermans, Jurgen J Fütterer, Nicol C Voermans

J Neuromuscul Dis· November 2018

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Specific muscle strength is reduced in facioscapulohumeral dystrophy: An MRI based musculoskeletal analysis.
Marco A Marra, Linda Heskamp, Karlien Mul, Saskia Lassche, Baziel G M van Engelen

Neuromuscul Disord· March 2018

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Ultrasound Imaging of Muscle Contraction of the Tibialis Anterior in Patients with Facioscapulohumeral Dystrophy.
Kaj Gijsbertse, Rianne Goselink, Saskia Lassche, Maartje Nillesen, André Sprengers

Ultrasound Med Biol· November 2017

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Monitoring creatine and phosphocreatine by (13)C MR spectroscopic imaging during and after (13)C4 creatine loading: a feasibility study.
Barbara H Janssen, Saskia Lassche, Maria T Hopman, Ron A Wevers, Baziel G M van Engelen

Amino Acids· August 2016

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What's in a name? The clinical features of facioscapulohumeral muscular dystrophy.
Karlien Mul, Saskia Lassche, Nicol C Voermans, George W Padberg, Corinne Gc Horlings

Pract Neurol· June 2016

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A novel KCNA1 mutation causing episodic ataxia type I.
Saskia Lassche, Sergio Lainez, Bastiaan R Bloem, Bart P C van de Warrenburg, Jeannette Hofmeijer

Muscle Nerve· August 2014

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Determining the role of sarcomeric proteins in facioscapulohumeral muscular dystrophy: a study protocol.
Saskia Lassche, Coen A C Ottenheijm, Nicol C Voermans, Henk-Jan Westeneng, Barbara H Janssen

BMC Neurol· October 2013

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Sarcomeric dysfunction contributes to muscle weakness in facioscapulohumeral muscular dystrophy.
Saskia Lassche, Ger J M Stienen, Tom C Irving, Silvère M van der Maarel, Nicol C Voermans

Neurology· February 2013

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