Ralitza H Gavrilova

Ralitza H Gavrilova

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Ralitza H Gavrilova

Ralitza H Gavrilova

Publications by authors named "Ralitza H Gavrilova"

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Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.

Nat Commun 2020 Jan 30;11(1):595. Epub 2020 Jan 30.

Institute of Medical Biology, A*STAR, Biopolis, Singapore, 138648, Singapore.

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http://dx.doi.org/10.1038/s41467-020-14360-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6992768PMC
January 2020

Three rare disease diagnoses in one patient through exome sequencing.

Cold Spring Harb Mol Case Stud 2019 Dec 13;5(6). Epub 2019 Dec 13.

Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota 55905, USA.

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http://dx.doi.org/10.1101/mcs.a004390DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6913146PMC
December 2019

Genetic variants in DGAT1 cause diverse clinical presentations of malnutrition through a specific molecular mechanism.

Eur J Med Genet 2019 Nov 25:103817. Epub 2019 Nov 25.

Bioinformatics Research and Development Laboratory, Genomic Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, 53226, USA; Clinical and Translational Sciences Institute, Medical College of Wisconsin, Milwaukee, WI, 53226, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.103817DOI Listing
November 2019

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.

Nat Commun 2019 07 12;10(1):3094. Epub 2019 Jul 12.

Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.

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http://dx.doi.org/10.1038/s41467-019-10910-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6626132PMC
July 2019

itochondrial erebellar taxia, enal failure, europathy, and ncephalopathy (MCARNE).

Neurol Genet 2019 Apr 6;5(2):e314. Epub 2019 Mar 6.

Department of Neurology (P.S.N., M.V.P., C.J.K.), Department of Laboratory Genetics and Genomics (J.L.N., L.H., E.W.H.), Department of Anatomic Pathology (J.L.N., M.E.F.), and Department of Clinical Genomics (R.H.G.), Mayo Clinic and Mayo Foundation, Rochester, MN.

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http://dx.doi.org/10.1212/NXG.0000000000000314DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454306PMC
April 2019

Clinical spectrum of -related epileptic disorders.

Neurology 2019 03 8;92(11):e1238-e1249. Epub 2019 Feb 8.

From the University of Tübingen (S. Wolking, J.M., Y.G.W., H.L., J.S.), Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, Tübingen, Germany; Luxembourg Centre for Systems Biomedicine (P.M.), University of Luxembourg, Esch-sur-Alzette; Pediatric Neurology and Neurogenetics Unit and Laboratories (D.M., R.G., C.M.), Children's Hospital Anna Meyer, University of Florence, Italy; Danish Epilepsy Centre (R.S.M.), Dianalund; Institute for Regional Health Services (R.S.M.), University of Southern Denmark, Odense; Department of Clinical and Experimental Epilepsy (S.B.), UCL Institute of Neurology and Epilepsy Society, UK, London; Division of Neurology (K.L.H., I.H.), Children's Hospital of Philadelphia, PA; Department of Pediatric Neurology (C.D.A.), Centre de Compétences Maladies Rares, CHU Besançon; Service de Génétique (N.C.), Hospices Civils des Lyon, Bron; GENDEV Team (N.C.), Neurosciences Research Center of Lyon, Bron, France; Neuropediatric Clinic and Clinic for Neurorehabilitation (K.S.), Epilepsy Center for Children and Adolescents, Schoen Klinik Vogtareuth, Germany; Beaumont Hospital (P.W.-W.), Dublin, Ireland; Department of Pediatrics, Division of Medical Genetics, Institute of Human Genetics (B.A.M.), Departments of Neurology and Pediatrics (A.N.), and Departments of Neurology and Pediatrics, and Institute of Human Genetics (M.R.C.), University of California, San Francisco; Department of Neurology (W.V.P.), University Hospitals Leuven, Belgium; Department of Pediatrics (L.L.S.), Hvidovre Hospital, Denmark; King's College Hospital (S.O., E.H., S.G., D.K.P.), London; Evelina London Children's Hospital (S.O., E.H., S.G.), London, UK; Section of Genetics (K.B., M.S.S.), Department of Pediatrics, University of Colorado and Children's Hospital Colorado, Aurora; Clinique Bernoise Montana (T.D.), Crans-Montana, Switzerland; Department of Neuropediatrics (H.M.), University Medical Center Schleswig-Holstein, Christian-Albrechts University, Kiel, Germany; National Institute for Health Research Oxford Biomedical Research Centre, Wellcome Centre for Human Genetics (A.T.P., S.J.L.K., J.C.T.) and Department of Oncology (D.V.V.), University of Oxford, UK; Epilepsy Center (M.P.C.), Health Sciences Department, San Paolo Hospital, University of Milan; Child Neuropsychiatry (F.D.), Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Italy; Departments of Neurology and Clinical Genomics (R.H.G.) and Health Sciences Research and Clinical Genomics (E.W.K., C.K.), Mayo Clinic, Rochester, MN; Ambry Genetics (Z.P.), Aliso Viejo, CA; Department of Clinical Neuroscience (S.T.), King's College London; New Medicines (M.A., D.M.), UCB Pharma, Slough, UK; Neuropediatric Clinic and Clinic for Neurorehabilitation (G.J.K.), Epilepsy Center for Children and Adolescents, Schoen Klinik Vogtareuth, Germany; Research Institute for Rehabilitation, Transition and Palliation (G.J.K.), PMU Salzburg, Austria; Department of Neurology (D.H.L.), University of California, San Francisco; Neurogenetics Group (S. Weckhuysen), Center for Molecular Neurology, VIB, Antwerp; Laboratory of Neurogenetics (S. Weckhuysen), Institute Born-Bunge, University of Antwerp; Department of Neurology (S. Weckhuysen), Antwerp University Hospital, Antwerp, Belgium; Department of Basic & Clinical Neuroscience, Institute of Psychiatry, Psychology & Neuroscience (D.K.P.), MRC Centre for Neurodevelopmental Disorders (D.K.P.), King's College London, UK; Evelina London Children's Hospital (D.K.P.), London, UK; Department of Neuropediatrics (I.H.), University Medical Center Schleswig-Holstein, Christian-Albrechts University, Kiel, Germany; Institute of Neuroscience (R.H.T.), Henry Wellcome Building, Newcastle University; Neurology Research Group (M.I.R.), Institute of Life Science, Swansea University Medical School, Swansea, UK; Service de Génétique (G.L.), Hospices Civils des Lyon, Bron; GENDEV Team (G.L.), Neurosciences Research Center of Lyon, Bron, France; NIHR University College London Hospitals Biomedical Research Centre (S.M.S.), UCL Institute of Neurology, London, UK; Cologne Center for Genomics (D.L.), University of Cologne, Germany; Stanley Center for Psychiatric Research (D.L.) and Program in Medical and Population Genetics (D.L.), Broad Institute of MIT and Harvard, Cambridge; Psychiatric and Neurodevelopmental Genetics Unit (D.L.), Massachusetts General Hospital and Harvard Medical School, Boston.

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http://dx.doi.org/10.1212/WNL.0000000000007089DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6511102PMC
March 2019

CKD Due to a Novel Mitochondrial DNA Mutation: A Case Report.

Am J Kidney Dis 2019 02 8;73(2):273-277. Epub 2018 Oct 8.

Division of Nephrology and Hypertension, Mayo Clinic College of Medicine, Rochester, MN. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S02726386183084
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http://dx.doi.org/10.1053/j.ajkd.2018.06.032DOI Listing
February 2019

Developmental delay and failure to thrive associated with a loss-of-function variant in WHSC1 (NSD2).

Am J Med Genet A 2018 12 22;176(12):2798-2802. Epub 2018 Oct 22.

Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota.

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http://doi.wiley.com/10.1002/ajmg.a.40498
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http://dx.doi.org/10.1002/ajmg.a.40498DOI Listing
December 2018

GFAP canonical transcript may not be suitable for the diagnosis of adult-onset Alexander disease.

Acta Neuropathol Commun 2018 10 24;6(1):112. Epub 2018 Oct 24.

Center for Individualized Medicine, Mayo Clinic, Harwick 3, 200 First Street SW, Rochester, MN, 55905, USA.

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http://dx.doi.org/10.1186/s40478-018-0616-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6201530PMC
October 2018

Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome.

Am J Case Rep 2018 Mar 25;19:347-353. Epub 2018 Mar 25.

Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5881453PMC
http://dx.doi.org/10.12659/ajcr.907395DOI Listing
March 2018

Novel GRN mutation presenting as an aphasic dementia and evolving into corticobasal syndrome.

Neurol Genet 2017 Dec 11;3(6):e201. Epub 2017 Dec 11.

Department of Neurology (H.B., R.C.P., D.S.K., B.F.B.), Department of Clinical Genomic and Neurology (R.H.G.), Department of Psychiatry and Psychology (M.A.M., J.A.F.), Department of Nuclear Medicine (V.J.W.), Department of Radiology (C.R.J.), and Alzheimer's Disease Research Center (C.M.D., D.J.G.), Mayo Clinic, Rochester, MN; and Department of Neuroscience (N.A.F., R.R.), Mayo Clinic, Jacksonville, FL.

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http://dx.doi.org/10.1212/NXG.0000000000000201DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5733247PMC
December 2017

Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) or "Coats Plus": when peripheral retinal vasculature signals neurologic disease.

J AAPOS 2017 Oct 31;21(5):420-422. Epub 2017 Aug 31.

Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota. Electronic address:

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http://dx.doi.org/10.1016/j.jaapos.2017.04.015DOI Listing
October 2017

Anesthetic Considerations for Angelman Syndrome: Case Series and Review of the Literature.

Anesth Pain Med 2017 Oct 26;7(5):e57826. Epub 2017 Jul 26.

Department of Anesthesiology and Perioperative Medicine, Mayo Clinic, Rochester, Minnesota, USA.

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http://dx.doi.org/10.5812/aapm.57826DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5903253PMC
October 2017

Multigenerational pedigree with STAR syndrome: A novel FAM58A variant and expansion of the phenotype.

Am J Med Genet A 2017 May 21;173(5):1328-1333. Epub 2017 Mar 21.

Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota.

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http://dx.doi.org/10.1002/ajmg.a.38113DOI Listing
May 2017

De novo 2p16.1 microdeletion with metastatic esophageal adenocarcinoma.

BMJ Case Rep 2017 Jan 20;2017. Epub 2017 Jan 20.

Department of Primary Care Internal Medicine, Mayo Clinic Minnesota, Rochester, Minnesota, USA.

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http://dx.doi.org/10.1136/bcr-2016-218016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5256579PMC
January 2017

Whole Exome Sequencing and Heterologous Cellular Electrophysiology Studies Elucidate a Novel Loss-of-Function Mutation in the CACNA1A-Encoded Neuronal P/Q-Type Calcium Channel in a Child With Congenital Hypotonia and Developmental Delay.

Pediatr Neurol 2016 Feb 6;55:46-51. Epub 2015 Nov 6.

Division of Cardiovascular Diseases, Department of Medicine, Mayo Clinic, Rochester, Minnesota; Department of Pediatric and Adolescent Medicine (Division of Pediatric Cardiology), Mayo Clinic, Rochester, Minnesota; Department of Molecular Pharmacology & Experimental Therapeutics, Mayo Clinic, Rochester, Minnesota. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2015.10.014DOI Listing
February 2016

Neuroimaging and clinical features in type II (late-onset) Alexander disease.

Neurology 2014 Jan 4;82(1):49-56. Epub 2013 Dec 4.

From the Departments of Neurology (J.G.-R., R.H.G., D.H.L., N.K.), Radiology (K.S.), and Medical Genetics (R.H.G.), Mayo Clinic, Rochester, MN.

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http://dx.doi.org/10.1212/01.wnl.0000438230.33223.bcDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3873623PMC
January 2014

Infrequent SCN9A mutations in congenital insensitivity to pain and erythromelalgia.

J Neurol Neurosurg Psychiatry 2013 Apr 5;84(4):386-91. Epub 2012 Nov 5.

Department of Neurology, Division of Peripheral Nerve Diseases, Mayo Clinic, Rochester, MN 55905, USA.

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http://dx.doi.org/10.1136/jnnp-2012-303719DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3594382PMC
April 2013

Myalgic phenotype and preserved muscle strength in adult-onset acid maltase deficiency.

Neuromuscul Disord 2012 Aug 16;22(8):763-6. Epub 2012 May 16.

Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S09608966120004
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http://dx.doi.org/10.1016/j.nmd.2012.02.003DOI Listing
August 2012

Valproate-induced worsening of seizures: clue to underlying diagnosis.

J Child Neurol 2011 Oct 31;26(10):1319-21. Epub 2011 Mar 31.

Department of Pediatric Neurology, Mayo Clinic, Rochester, MN 55905, USA.

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http://dx.doi.org/10.1177/0883073811402204DOI Listing
October 2011

Anesthetic considerations in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome: a case series.

Can J Anaesth 2011 Aug 9;58(8):751-63. Epub 2011 Jun 9.

Department of Anesthesiology, College of Medicine, Mayo Clinic, Rochester, MN 55905, USA.

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http://dx.doi.org/10.1007/s12630-011-9528-0DOI Listing
August 2011

Sporadic corticobasal syndrome with progranulin mutation presenting as progressive apraxic agraphia.

Arch Neurol 2011 Mar;68(3):376-80

Department of Psychiatry, Mayo Clinic, 200 1st St SW, Rochester, MN 55905, USA.

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http://dx.doi.org/10.1001/archneurol.2011.26DOI Listing
March 2011

Multiple sclerosis, brain radiotherapy, and risk of neurotoxicity: the Mayo Clinic experience.

Int J Radiat Oncol Biol Phys 2006 Nov 11;66(4):1178-86. Epub 2006 Sep 11.

Department of Radiation Oncology, Mayo Clinic, Rochester, MN55905, USA.

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http://dx.doi.org/10.1016/j.ijrobp.2006.06.014DOI Listing
November 2006

Flumazenil responsive ornithine transcarbamylase deficiency encephalopathy: clinical and radiographic features.

J Neuroimaging 2002 Jan;12(1):87-8

Positron Emission Tomography Imaging Division, Lucy Dent Imaging Center, Dent Neurologic Institute, Buffalo, New York, USA.

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http://dx.doi.org/10.1111/j.1552-6569.2002.tb00100.xDOI Listing
January 2002