Ralitza H Gavrilova MD

PubMed

• MBOAT7 encephalopathy: Characterizing the neurology and epileptology.
  Sebastian Ortiz De la Rosa, Valentina Rizzo, Robin-Tobias Jauss, Tobias Bartolomaeus, Maria Escolar
  Epilepsia. 2025-03-21
• SOS1 -Related Noonan Syndrome and Sudden Cardiac Arrest in the Absence of Cardiomyopathy-An Arrhythmia Phenotype?
  Michael A Cirelli Jr, Philip Wackel, Rabia Javed, Ralitza Gavrilova, M Yasir Qureshi
  American Journal of Medical Genetics. Part A. 2025-03-01
• 3 citations
  The expanding clinical and genetic spectrum of DYNC1H1-related disorders.
  Birk Möller, Lena-Luise Becker, Afshin Saffari, Alexandra Afenjar, Emanuele G Coci
  Brain. 2025-02-03

Journal Articles

• Developmental Delay and Failure to Thrive Associated with a Loss‐of‐Function Variant in WHSC1 (NSD2)  
  Linda Hasadsri, Ralitza H Gavrilova, American Journal of Medical Genetics Part A
• High-throughput immunoassay for the biochemical diagnosis of Friedreich ataxia in dried blood spots and whole blood  
  Oglesbee D, Kroll C, Gakh O, Deutsch EC, Lynch DR, Gavrilova R, Tortorelli S, Raymond K, Gavrilov D, Rinaldo P, Matern D, Isaya G, Clin Chem, 1/1/2013
• Sporadic Corticobasal Syndrome with Progranulin Mutation Presenting as Progressive Apraxic Agraphia  
  Gavrilova R, Passov V, Strand E, Cerhan J, Josephs K, Archives of Neurology, 1/1/2010

Books/Book Chapters

• Mayo Clinic Neurology Board Review: Basic Sciences and Psychiatry for Initial Certification 
  Chapter: Patterns of Inheritance in Neurogenetic Disease 
  Gavrilova RH, Michels VEditors: Kelly D Flemming and Lyell K Jones.Mayo Clinic Scientific Press2015
• Mayo Clinic Neurology Board Review: Basic Sciences and Psychiatry for Initial Certification 
  Chapter: Chromosomal Syndromes 
  Gavrilova RH, Michels VEditors: Kelly D Flemming and Lyell K Jones.Mayo Clinic Scientific Press2015
• Essentials of anatomic pathology 
  Chapter: Human genetic disorders 
  Page 535 - 598Kruisselbrink TM, Lindor NM, Mitchell EB, Thomas BC, Runke CK, Kotzer KE, Pruthi RK, Oglesbee D, Grycki EM, Gavrilova RHEditors: Cheng L; Bostwick DG.Springer, NYEdition 3rd,2011

Abstracts/Posters

• A Case of E200K Creutzfeldt Jakob Disease presenting with REM behavior sleep disorder and severe obstructive sleep apnea
  Gavrilova RH, American Academy of Neurology 67th Annual Meeting, Washington, DC, 1/1/2015
• Whole Exome Sequencing and Heterologous Cellular Electrophysiology Studies Elucidate a Novel Loss-of-Function Mutation in the CACNA1A-Encoded Neuronal P/Q-Type Calcium...
  Weyhrauch DL, Ye D, Boczek NJ, Tester DJ, Gavrilova RH, Patterson MC, Wieben ED, Ackerman MJ, Pediatric Academic Societies, 1/1/2015
• Comparison of Friedreich Ataxia Patients with Trinucleotide Repeat Expansions and Point Mutations in FXN-Encoded Frataxin
  Gavrilova RH, European Conference of Human Genetics, Milan, Italy, 1/1/2014
• Comparison of Friedreich Ataxia Patients with Trinucleotide Repeat Expansions and Points Mutations in FXN
  Gavrilova R, Ataxia Investigators Meeting, 1/1/2014
• Whole Exome Sequencing Reveals Novel Variant in CACNA1A Gene in a Patient with Global Developmental Delay
  Ji Y, Johnson K, Schahl K, Patterson M, Gavrilova R, ACMG Conference, 1/1/2014
• 17a-Hydrolase Deficiency In Three 46, XY Phenotypic Female Patients
  Maraka S, Erickson D, Gavrilova R, Lteif A, AACE Conference, 1/1/2014
• Whole Exome Sequencing Reveals De Novo PACS1 Mutation
  Schahl K, Gavrilova R, ACMG Annual Clinical Genetics Meeting, 1/1/2014
• Neuroimaging and Clinical Features in Late onset Alexander Disease
  Graff Radford J, Lachance DH, Schwartz KM, Gavrilova RH, American Academy of Neurology, Philadelphia, PA, 1/1/2014
• Comparison of Friedreich Ataxia Patients with Trinucleotide Repeat Expansions and Point Mutations in FXN-Encoded Frataxin
  Dhamija R, Hesemann J, Teigen C, Johnson J, Ackerman M, Oglesbee D, Isaya G, Tebben P, Patterson M, Gavrilova R, ESHG Conference, 1/1/2014
• Longitudinal Changes in Brain MRI and Neuropsychological Measures in Asymptomatic and Symptomatic Familial Frontotemporal Lobar Degeneration with Mutations in MAPT Alz...
  Jones D, Weigand S, Przybelski S, Graff-Radford J, Senjem M, Whitwell J, Knopman D, Graff-Radford N, Josephs K, Wszolek Z, Vemuri P, Fields F, Machulda M, Ferman T, Lu..., Association International Conference, 1/1/2014
• Identification of novel FTLD-TDP genes using whole-genome sequencing
  Pottier C, Baker M, Blitterswijk M, Brown P, Kuntz K, Gavrilova R, Sorenson E, Murray M, Parisi J, Petersen R, Knopman D, Josephs K, Neill GR, Dickson D, Boeve B, Rade..., 9th International Conference on Frontotemporal Dementias (ICFTD), 1/1/2014
• Corticobasal syndrome in familial frontotemporal lobar degeneration and serial imaging associated with a mutation in progranulin
  Owens E, Baker M, Boeve B, Bruns M, Gavrilova R, Jack C, Josephs K, Kantarci K, Lowe V, Molano J, Whitwell J, 9th International Conference on Frontotemporal Dementias (ICFTD), 1/1/2014
• Longitudinal changes in brain MRI and neuropsychological measures in asymptomatic and symptomatic familial frontotemporal lobar degeneration with mutations in MAPT
  Jones D, Weigand S, Przybelski S, Graff-Radford J, Senjem M, Gunter J, Whitwell J, Knopman D, Graff-Radford N, Josephs K, Wszolek Z, Vemuri P, Fields J, Machulda M, Fe..., 9th International Conference on Frontotemporal Dementias (ICFTD), 1/1/2014
• Woodhouse-Sakati Syndrome with 3-Methylglutaconic Aciduria and Coenzyme Q10 and Deficiency
  Gavrilova R, SSIEM, 1/1/2013
• Exome sequencing as a diagnostic tool in diverse neuropathies
  Klein CJ, Middha S, Duan X, Wu Y, Litchy WJ, Gu W, Dyck PJB, Gavrilova R, Smith DI, Kocher JP, Dyck PJ, J Peripher Nerv Syst, 1/1/2013
• Woodhouse-Sakati Syndrome with 3-Methylglutaconic Aciduria and Coenzyme Q10 Deficiency
  Gavrilova RH, International Congress of Inborn Errors of Metabolism
, Barcelona, Spain, 1/1/2013
• Peripapillary Chorioretinal Lacunae in an Autosomal Microdeletion Syndrome
  Gavrilova RH, European Society of Human Genetics Conference, Barcelona, Spain, 1/1/2013
• Frataxin Blood Level Contributes to a Positive Diagnosis of Friedreich Ataxia, a Case Study
  Gavrilova RH, Annual Clinical Genetics Meeting, Phoenix, AZ, 1/1/2013
• Adult Onset Autosomal Dominant Leukodystrophy Presenting with REM Sleep Behavior Disorder
  Gavrilova RH, American Academy of Neurology 65th Annual Meeting, San Diego, CA, 1/1/2013
• Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with GGGGCC repeat expansion in C9ORF72
  Boeve B, Graff-Radford N, Boylan K, DeJesus-Hernandez M, Knopman D, Josephs K, Pedraza O, Vemuri P, Rush B, Fields J, Ferman T, Baker M, Rutherford N, Jones D, Lowe V,..., Dement Geriatr Cogn Disord, 1/1/2012
• Characterization of frontotemporal dementia +/- amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72
  Boeve B, Graff-Radford N, Boylan K, DeJesus-Hernandez M, Knopman D, Josephs K, Pedraza O, Vemuri P, Rush B, Fields J, Ferman T, Baker M, Rutherford N, Jones D, Lowe V,..., Neurology, 1/1/2012
• Genetics in Huntington's disease
  Gavrilova RH, Psychiatric Genomics: Applications for Clinical Practice, Rochester, MN, 1/1/2012
• The Genetics and Psychiatric Treatment of Huntington Disease
  Gavrilova RH, Psychiatric Genomics: Applications for Clinical Practice, Rochester, MN, 1/1/2011
• Stroke in patients with polymerase gamma 1 (POLG1) mutations
  Gavrilova RH, Zabel CA, Swanson JW, J Inherit Metab Dis, 1/1/2010
• Infant with PAGOD Syndrome Phenotype and Vitamin A Deficiency
  Gavrilova RH, SIMD 2010 Annual Meeting, Albuquerque, New Mexico, 1/1/2010
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Lectures

• Childhood Leukodystrophies 
  Belgrade, Serbia - 1/1/2015
• Comparison of Friedreich Ataxia Patients with Trinucleotide Repeat Expansions and Points Mutations in FXN 
  Las Vegas, NV - 1/1/2014
• Differential Diagnosis of MS and Non-MS White Matter Diseases
 
  Scottsdale, AZ - 1/1/2013
• Differential Diagnosis of MS and Non-MS White Matter Diseases 
  Phoenix, AZ - 1/1/2013
• Stroke in Patients with Polymerase Gamma 1 (POLG1) Mutations 
  Turkey - 1/1/2011
• Combined Malonic and Methylmalonic Aciduria with Normal Malonyl-CoA Decarboxylase (MCD) Activity Detected by Newborn Screening (NBS) 
  1/1/2008
• PAGOD Syndrome or Fetal Vitamin A Deficiency? 
  Barcelona, Spain - 1/1/2006
• The Radiographic Spectrum of Biopsy Proven Inflammatory Demyelinating Disease 
  San Diego, CA - 1/1/2006
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