Concepedia

Adriana Rebelo

AR

Statistics

Publications

39

Citations

2.9K

H-Index

29

Active since

2007

Affiliations

University of Miami(Current)

Dr. John T. Macdonald Foundation

University College London

National Hospital for Neurology and Neurosurgery

Hertie Institute for Clinical Brain Research

Adriana Rebelo is an author at University of Miami specializing in life sciences, genetics, and neurogenetics.

ORCID

Publications per year

2007–2024

39

Publications

39

Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia

Andrea Cortese, Roberto Simone, Roisin Sullivan et al. · Nature Genetics · 2019 · 581 citations · Full text

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Deep Intronic <i>FGF14</i> GAA Repeat Expansion in Late-Onset Cerebellar Ataxia

David Pellerin, Matt C. Danzi, Carlo Wilke et al. · New England Journal of Medicine · 2022 · 243 citations · Full text

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PNPLA6 mutations cause Boucher-Neuhäuser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum

Matthis Synofzik, Michael Gonzalez, Charles Marques Lourenço et al. · Brain · 2013 · 226 citations · Full text

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Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder

Alexander J. Abrams, Robert B. Hufnagel, Adriana Rebelo et al. · Nature Genetics · 2015 · 206 citations · Full text

, , +11

Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes

Andrea Cortese, Yi Zhu, Adriana Rebelo et al. · Nature Genetics · 2020 · 177 citations · Full text

, , +11

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