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Ronald D Cohn

9PUBLICATIONS
89CO-AUTHORS
Neurology and neuromuscular diseasesGene expression (incl. microarray and other genome-wide approaches)Genetically modified animalsGene and molecular therapyEpigenetics (incl. genome methylation and epigenomics)
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Journal

Publications (9)

Sort by Publication Date:
|Nov 27, 2025
Mutations in the β-tubulin TUBB impair ciliogenesis and are associated with ciliopathy-like phenotypes.

Antonio Mollica, Safia Omer, Georgiana Forguson

|Oct 22, 2025
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.

Reza Asadollahi, Aisha Ahmad, Paranchai Boonsawat

|Dec 19, 2024
Exome and Genome Sequencing to Diagnose the Genetic Basis of Neonatal Hypotonia: An International Consortium Study.

Sarah U Morton, Gregory Costain, Courtney E French

|Aug 05, 2024
Generation and characterization of a mouse model of Becker muscular dystrophy with a deletion of Dmd exons 52 to 55.

Lucie O M Perillat, Tatianna W Y Wong, Eleonora Maino

|Jun 28, 2024
AAV gene therapy for hereditary spastic paraplegia type 50: a phase 1 trial in a single patient.

James J Dowling, Terry Pirovolakis, Keshini Devakandan

|May 03, 2024
Novel protein-truncating variants of a chromatin-modifying gene MSL2 in syndromic neurodevelopmental disorders.

Xiaona Lu, Kim Ng, Filippo Pinto E Vairo

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Frequent Collaborators

3 joint publications

Evgueni A Ivakine

3 joint publications

Eleonora Maino

2 joint publications

Zornitza Stark

2 joint publications

James J Dowling

2 joint publications

Monica H Wojcik

2 joint publications

John Christodoulou

2 joint publications

Anna Szuto

1 joint publications

Jill A Rosenfeld

1 joint publications

Mustafa Sahin

1 joint publications

Benjamin M Greenberg

Frequent Collaborators

3 joint publications

Evgueni A Ivakine

3 joint publications

Eleonora Maino

2 joint publications

Zornitza Stark

2 joint publications

James J Dowling

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