Alan Mejia Maza

Broad Institute — United States

Medicine · Health Sciences

5h-index379citations12works0.72yr avg
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Research Topics

Amyotrophic Lateral Sclerosis Research(6), Genetic Neurodegenerative Diseases(6), Neurological disorders and treatments(5), Neurogenetic and Muscular Disorders Research(4), Parkinson's Disease Mechanisms and Treatments(3)

Publications12 total

TRACE: Open-Source Software for Quantifying Somatic Variation of Tandem Repeats by Capillary Electrophoresis
2026Open Access
MSH3 is a genetic modifier of somatic repeat instability in X-linked dystonia parkinsonism
The American Journal of Human Genetics·2025· 1 citedOpen Access
<i>MSH3</i> is a genetic modifier of somatic repeat instability in X-linked dystonia parkinsonism
2025· 1 citedOpen Access
Correction to: Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat
Acta Neuropathologica Communications·2022Open Access
Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat
Acta Neuropathologica Communications·2022· 15 citedOpen Access
Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat
2022· 2 citedOpen Access
NMJ-Analyser identifies subtle early changes in mouse models of neuromuscular disease
Scientific Reports·2021· 27 citedOpen Access
NMJ-Analyser: high-throughput morphological screening of neuromuscular junctions identifies subtle changes in mouse neuromuscular disease models
2020Open Access
Axonal swellings and spheroids: a new insight into the pathology of neurocysticercosis
Brain Pathology·2018· 31 citedOpen Access
Mice with endogenous <scp>TDP</scp> ‐43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis
The EMBO Journal·2018· 180 citedOpen Access
Humanized mutant FUS drives progressive motor neuron degeneration without aggregation in ‘FUSDelta14’ knockin mice
Brain·2017· 122 citedOpen Access
Faculty Opinions recommendation of Apical dendrite degeneration, a novel cellular pathology for Betz cells in ALS.
Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature·2017Open Access

Frequent Co-authors

Kevin Correia(6), Elizabeth Fisher(5), Rachita Yadav(5), Ellen B. Penney(5), Micaela G. Murcar(5), Criscely L. Go(5), Edwin L. Muñoz(5), Cid Czarina E. Diesta(5), Laurie J. Ozelius(5), Cara Fernandez‐Cerado(4), G. Paul Legarda(4), Nutan Sharma(4), Mark C. Ang(4), D. Cristopher Bragg(4), Pietro Fratta(3), Lindsey N. Campion(3), M. Salvie Velasco-Andrada(3), Niecy G. Ganza-Bautista(3), J. Benedict B. Lagarde(3), Patrick Acuña(3)