Adriana P Rebelo

Adriana P Rebelo

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Adriana P Rebelo

Adriana P Rebelo

Publications by authors named "Adriana P Rebelo"

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POLG mutations presenting as Charcot-Marie-Tooth disease.

J Peripher Nerv Syst 2019 Jun 10;24(2):213-218. Epub 2019 Apr 10.

Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1111/jns.12313DOI Listing
June 2019

Autosomal dominant optic atrophy and cataract "plus" phenotype including axonal neuropathy.

Neurol Genet 2019 Apr 1;5(2):e322. Epub 2019 Apr 1.

Department of Neuromuscular Diseases (A.H., A.C., M.G.H., M.M.R.), UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery, University College London Hospitals; Department of Molecular Neuroscience (A.M.P., H.H.), UCL Queen Square Institute of Neurology; Department of Neuro-ophthalmology (F.B.F.R.C.O.), the National Hospital for Neurology and Neurosurgery, University College London Hospitals; Division of Neuropathology (Z.J., S.B.), the National Hospital for Neurology and Neurosurgery, University College London Hospitals; Department of Clinical and Movement Neurosciences (Z.J.), UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Neurology (L.D., S.S.S.), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Department of Human Genetics and Hussman Institute for Human Genomics (A.P.R., S.Z.), University of Miami, FL; Department of Neurogenetics (C.E.W., J.M.P.), the National Hospital for Neurology and Neurosurgery, University College London Hospitals; Neurometabolic Unit (I.P.H.), the National Hospital for Neurology and Neurosurgery, University College London Hospitals; and Department of Neurodegenerative Disease (S.B.), UCL Queen Square Institute of Neurology, London, United Kingdom.

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http://dx.doi.org/10.1212/NXG.0000000000000322DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6501639PMC
April 2019

Insights into the genotype-phenotype correlation and molecular function of SLC25A46.

Hum Mutat 2018 12 17;39(12):1995-2007. Epub 2018 Sep 17.

John P. Hussman Institute for Human Genomics, Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, USA.

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http://dx.doi.org/10.1002/humu.23639DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6240357PMC
December 2018

Identification of a new SYT2 variant validates an unusual distal motor neuropathy phenotype.

Neurol Genet 2018 Dec 22;4(6):e282. Epub 2018 Oct 22.

Department of Neurology (N.I.M.-C., M.C., C.V., M.A.S.), University of Miami Miller School of Medicine FL; Department of Biology (Z.G., J.T.L.) and Department of Brain and Cognitive Sciences (Z.G., J.T.L.), The Picower Institute for Learning & Memory, Massachusetts Institute of Technology, Cambridge; and Department of Human Genetics (S.C., A.P.R., L.A., S.Z., M.A.S.), Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL.

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http://dx.doi.org/10.1212/NXG.0000000000000282DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6244021PMC
December 2018

The human motor neuron axonal transcriptome is enriched for transcripts related to mitochondrial function and microtubule-based axonal transport.

Exp Neurol 2018 09 20;307:155-163. Epub 2018 Jun 20.

Department of Neurology, University of Miami Miller School of Medicine, Miami, FL 33136, USA; Department of Human Genetics, Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00144886183019
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http://dx.doi.org/10.1016/j.expneurol.2018.06.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6713456PMC
September 2018

Mutations in BAG3 cause adult-onset Charcot-Marie-Tooth disease.

J Neurol Neurosurg Psychiatry 2018 03 28;89(3):313-315. Epub 2017 Jul 28.

Department of Human Genetics and Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, Florida, USA.

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http://jnnp.bmj.com/lookup/doi/10.1136/jnnp-2017-315929
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http://dx.doi.org/10.1136/jnnp-2017-315929DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6152909PMC
March 2018

Novel mutations in provide clues to the pathomechanisms of HSAN-VI.

Neurology 2017 May 3;88(22):2132-2140. Epub 2017 May 3.

From the Departments of Neurosciences, Reproductive Sciences, and Odontostomatology (F.M., C.P., S.T., L.S.) and Department of Molecular Medicine and Medical Biotechnologies (S. Parisi, S. Paladino, T.R.), University of Naples "Federico II"; Neurology Department (M.N., V.P.), "Salvatore Maugeri" Foundation IRCCS-Medical Center of Telese, Telese Terme, Italy; Department of Human Genetics and Hussman Institute for Human Genomics (F.T., A.P.R., S.Z.), Miller School of Medicine, University of Miami, FL; Molecular Medicine Laboratory (C.N., F.M.S.), Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Pisa, Italy; and Department of Neurology (M.E.S.), University of Iowa Carver College of Medicine, Iowa City.

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http://dx.doi.org/10.1212/WNL.0000000000003992DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5447400PMC
May 2017

Motor protein mutations cause a new form of hereditary spastic paraplegia.

Neurology 2014 Jun 7;82(22):2007-16. Epub 2014 May 7.

From the Hertie-Institute for Clinical Brain Research (A.C.O., J.R., L.S., R.S.), Department of Neurodegenerative Diseases, University of Tübingen, Germany; Bogazici University (E.B., B.O.), Department of Molecular Biology and Genetics, Istanbul; Tepecik Research and Training Hospital (L.O., Y.Z.), Clinics of Neurology, Izmir, Turkey; Diagnostic and Interventional Neuroradiology (T.L., B.B.), Department of Radiology, University Hospital Tübingen; German Research Center for Neurodegenerative Diseases (DZNE) (J.R., R.S., L.S.), Tübingen, Germany; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (A.P.R., M.A.G., S.Z., R.S.), University of Miami Miller School of Medicine, FL; Department of Neurology (D.T.), University of Duisburg-Essen; and Department of Physics E22 (Biophysics) (G.W.), Technical University Munich, Garching, Germany.

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http://dx.doi.org/10.1212/WNL.0000000000000479DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4105256PMC
June 2014

Characterization of the mitofusin 2 R94W mutation in a knock-in mouse model.

J Peripher Nerv Syst 2014 Jun;19(2):152-64

Department of Human Genetics, Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.

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http://doi.wiley.com/10.1111/jns5.12066
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http://dx.doi.org/10.1111/jns5.12066DOI Listing
June 2014

The role of PGC-1 coactivators in aging skeletal muscle and heart.

IUBMB Life 2012 Mar 25;64(3):231-41. Epub 2012 Jan 25.

Department of Cell Biology and Anatomy, University of Miami Miller School of Medicine, FL, USA.

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http://doi.wiley.com/10.1002/iub.608
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http://dx.doi.org/10.1002/iub.608DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4080206PMC
March 2012

Mitochondrial DNA transcription regulation and nucleoid organization.

J Inherit Metab Dis 2011 Aug 4;34(4):941-51. Epub 2011 May 4.

Departments of Neurology, University of Miami Miller School of Medicine, 1095 NW 14th Terrace, Miami, FL 33136, USA.

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http://doi.wiley.com/10.1007/s10545-011-9330-8
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http://dx.doi.org/10.1007/s10545-011-9330-8DOI Listing
August 2011

In vivo methylation of mtDNA reveals the dynamics of protein-mtDNA interactions.

Nucleic Acids Res 2009 Nov 9;37(20):6701-15. Epub 2009 Sep 9.

Department of Cell Biology and Anatomy, University of Miami School of Medicine, Miami, FL 33136, USA.

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http://dx.doi.org/10.1093/nar/gkp727DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2777446PMC
November 2009