Matt C. Danzi

University of Miami — United States

Neuroscience · Life Sciences

29h-index3.5kcitations129works10.02yr avg
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Research Topics

Genetic Neurodegenerative Diseases(55), Mitochondrial Function and Pathology(31), Hereditary Neurological Disorders(18), Genomics and Rare Diseases(15), Nerve injury and regeneration(13)

Publications128 total

Diagnostic yield of genome sequencing in children with progressive movement disorders
Brain·2026
Spectrum of dominant Charcot-Marie-Tooth disease due to <i>SLC12A6</i> variants
Journal of Neurology Neurosurgery & Psychiatry·2026· 1 citedOpen Access
Repeat Expansions in a Chilean Cohort with Adult-Onset Cerebellar Ataxia
The Cerebellum·2025
A Complex <scp> <i>FGF14</i> </scp> ( <scp>TTC</scp> )/( <scp>TGC</scp> ) Repeat Expansion in Parkinson's Disease
Movement Disorders·2025
Population-scale Long-read Sequencing in the All of Us Research Program
2025· 1 citedOpen Access
Delineating the pathogenic threshold and phenotypic spectrum of SCA27B: findings from a large French–Canadian cohort
Journal of Neurology·2025· 3 citedOpen Access
Repeat Expansions in a Chilean Cohort With Adult-Onset Cerebellar Ataxia
2025Open Access
Late-onset cerebellar ataxia in three European patients with repeat expansions in RFC1 and FGF14: a case series
Journal of Neurology·2025· 2 cited
The Genetic and Evolutionary Landscape of Pentanucleotide Tandem Repeats in Human Genomes
2025· 1 citedOpen Access
A genome-wide approach for the discovery of novel repeat expansion disorders in the Undiagnosed Diseases Network cohort
Genetics in Medicine·2025
Intronic <i>FGF14</i> GAA repeat expansions impact progression and survival in multiple system atrophy
Brain·2025· 4 citedOpen Access
The continued promise of genomic technologies and software in neurogenetics
Journal of Neuromuscular Diseases·2025Open Access
Phenotype Description and Lower Pathogenicity Threshold in a Large Cohort of SCA27B (P6-5.028)
Neurology·2025
The FGF14-SCA27B GAA•TTC Repeat Shows a Marked Somatic Expansion Bias in the Cerebellum (S4.004)
Neurology·2025
<scp><i>FGF14</i> GAA</scp> Intronic Expansion in Unsolved Adult‐Onset Ataxia in the <scp>Care4Rare</scp> Canada Consortium
Annals of Clinical and Translational Neurology·2025· 3 citedOpen Access
Late-onset vestibulocerebellar ataxia: clinical and genetic studies in a long follow-up series of 50 patients
Journal of Neurology·2025· 2 cited
The Spastic Paraplegia–Centers of Excellence Research Network (SP-CERN)
Neurology Genetics·2025· 3 citedOpen Access
Involvement of the Superior Cerebellar Peduncles in GAA- <i>FGF14</i> Ataxia
Neurology Genetics·2025· 11 citedOpen Access
Recent Advances in the Genetics of Ataxias: An Update on Novel Autosomal Dominant Repeat Expansions
Current Neurology and Neuroscience Reports·2025· 13 cited
Detailed tandem repeat allele profiling in 1,027 long-read genomes reveals genome-wide patterns of pathogenicity
2025· 5 citedOpen Access
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Frequent Co-authors

Stephan Züchner(19), David Pellerin(16), Henry Houlden(15), Stephan Züchner(15), Matthis Synofzik(14), Vance Lemmon(13), Bernard Brais(13), John L. Bixby(11), Marie‐Josée Dicaire(11), Luming Zhou(9), Simone Di Giovanni(9), Francesco De Virgiliis(8), Ilaria Palmisano(8), Guiping Kong(7), Adriana Rebelo(7), Rebecca Schüle(7), Thomas H. Hutson(6), Sarah Fazal(6), Andrea Cortese(6), Dana M. Bis‐Brewer(6)