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Neuromuscular Disorders : NMD
|
November 26, 2025
Meeting report: The FSHD society 2025 international research congress
Lucienne Ronco, Stephen Tapscott, Nicol C Voermans, et al.
Journal of Neurodevelopmental Disorders
|
January 17, 2022
Social communication in fragile X syndrome: pilot examination of the Brief Observation of Social Communication Change (BOSCC)
Rebecca Shaffer, Angela John Thurman, Lucienne Ronco, et al.
Diagnostics (Basel, Switzerland)
|
October 23, 2021
FMRP Levels in Human Peripheral Blood Leukocytes Correlates with Intellectual Disability
Mark Roth, Lucienne Ronco, Diego Cadavid, et al.
Journal of Neurodevelopmental Disorders
|
December 9, 2022
The feasibility and utility of hair follicle sampling to measure FMRP and FMR1 mRNA in children with or without fragile X syndrome: a pilot study
Isha Jalnapurkar, Jean A Frazier, Mark Roth, et al.
Neuromuscular Disorders : NMD
|
June 24, 2026
A portrait of facioscapulohumeral muscular dystrophy through history: past milestones and future challenges on the road to understanding and treatment
Anna Greco, George W Padberg, Kees van de Graaf, et al.
Bioorganic & Medicinal Chemistry Letters
|
April 20, 2015
Discovery of heterocyclic sulfonamides as sphingosine 1-phosphate receptor 1 (S1P1) antagonists
Edward J Hennessy, Gurmit Grewal, Kate Byth, et al.
Scientific Reports
|
October 29, 2025
Novel and less invasive biomarker assays to measure liver ATP7B in Wilson disease patients
Rosanna J Jiang, Lucy Chen, Kimberly Amburgey, et al.
The Journal of Molecular Diagnostics : JMD
|
May 10, 2016
Development and Validation of a Mass Spectrometry-Based Assay for the Molecular Diagnosis of Mucin-1 Kidney Disease
Brendan Blumenstiel, Matthew DeFelice, Ozge Birsoy, et al.
The Journal of Pharmacology and Experimental Therapeutics
|
June 25, 2020
p38<i>α</i> Regulates Expression of DUX4 in a Model of Facioscapulohumeral Muscular Dystrophy
L Alejandro Rojas, Erin Valentine, Anthony Accorsi, et al.
Molecular Cancer Therapeutics
|
April 17, 2014
A small molecule that binds and inhibits the ETV1 transcription factor oncoprotein
Marius S Pop, Nicolas Stransky, Colin W Garvie, et al.
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of 2
Search research articles
Search
Showing results (1-10 of 18) with videos related to
Sort By:
Page
of 2
Neuromuscular Disorders : NMD
|
November 26, 2025
Meeting report: The FSHD society 2025 international research congress
Lucienne Ronco, Stephen Tapscott, Nicol C Voermans, et al.
Journal of Neurodevelopmental Disorders
|
January 17, 2022
Social communication in fragile X syndrome: pilot examination of the Brief Observation of Social Communication Change (BOSCC)
Rebecca Shaffer, Angela John Thurman, Lucienne Ronco, et al.
Diagnostics (Basel, Switzerland)
|
October 23, 2021
FMRP Levels in Human Peripheral Blood Leukocytes Correlates with Intellectual Disability
Mark Roth, Lucienne Ronco, Diego Cadavid, et al.
Journal of Neurodevelopmental Disorders
|
December 9, 2022
The feasibility and utility of hair follicle sampling to measure FMRP and FMR1 mRNA in children with or without fragile X syndrome: a pilot study
Isha Jalnapurkar, Jean A Frazier, Mark Roth, et al.
Neuromuscular Disorders : NMD
|
June 24, 2026
A portrait of facioscapulohumeral muscular dystrophy through history: past milestones and future challenges on the road to understanding and treatment
Anna Greco, George W Padberg, Kees van de Graaf, et al.
Bioorganic & Medicinal Chemistry Letters
|
April 20, 2015
Discovery of heterocyclic sulfonamides as sphingosine 1-phosphate receptor 1 (S1P1) antagonists
Edward J Hennessy, Gurmit Grewal, Kate Byth, et al.
Scientific Reports
|
October 29, 2025
Novel and less invasive biomarker assays to measure liver ATP7B in Wilson disease patients
Rosanna J Jiang, Lucy Chen, Kimberly Amburgey, et al.
The Journal of Molecular Diagnostics : JMD
|
May 10, 2016
Development and Validation of a Mass Spectrometry-Based Assay for the Molecular Diagnosis of Mucin-1 Kidney Disease
Brendan Blumenstiel, Matthew DeFelice, Ozge Birsoy, et al.
The Journal of Pharmacology and Experimental Therapeutics
|
June 25, 2020
p38<i>α</i> Regulates Expression of DUX4 in a Model of Facioscapulohumeral Muscular Dystrophy
L Alejandro Rojas, Erin Valentine, Anthony Accorsi, et al.
Molecular Cancer Therapeutics
|
April 17, 2014
A small molecule that binds and inhibits the ETV1 transcription factor oncoprotein
Marius S Pop, Nicolas Stransky, Colin W Garvie, et al.
Page
of 2