Works by Gavrilova, Ralitza

Results: 60

Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability.

Published in:

Human Mutation, 2017, v. 38, n. 10, p. 1365, doi. 10.1002/humu.23282

By:

Marom, Ronit;
Jain, Mahim;
Burrage, Lindsay C.;
Song, I‐Wen;
Graham, Brett H.;
Brown, Chester W.;
Stevens, Servi J.C.;
Stegmann, Alexander P.A.;
Gunter, Andrew T.;
Kaplan, Julie D.;
Gavrilova, Ralitza H.;
Shinawi, Marwan;
Rosenfeld, Jill A.;
Bae, Yangjin;
Tran, Alyssa A.;
Chen, Yuqing;
Lu, James T.;
Gibbs, Richard A.;
Eng, Christine;
Yang, Yaping

Publication type:

Article

Adult-onset leukodystrophies: a practical guide, recent treatment updates, and future directions.

Published in:

Frontiers in Neurology, 2023, p. 1, doi. 10.3389/fneur.2023.1219324

By:

Muthusamy, Karthik;
Sivadasan, Ajith;
Dixon, Luke;
Sudhakar, Sniya;
Thomas, Maya;
Danda, Sumita;
Wszolek, Zbigniew K.;
Wierenga, Klaas;
Dhamija, Radhika;
Gavrilova, Ralitza

Publication type:

Article

A Genotype/Phenotype Study of KDM5B -Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants.

Published in:

Genes, 2024, v. 15, n. 8, p. 1033, doi. 10.3390/genes15081033

By:

Borroto, Maria Carla;
Michaud, Coralie;
Hudon, Chloé;
Agrawal, Pankaj B.;
Agre, Katherine;
Applegate, Carolyn D.;
Beggs, Alan H.;
Bjornsson, Hans T.;
Callewaert, Bert;
Chen, Mei-Jan;
Curry, Cynthia;
Devinsky, Orrin;
Dudding-Byth, Tracy;
Fagan, Kelly;
Finnila, Candice R.;
Gavrilova, Ralitza;
Genetti, Casie A.;
Hiatt, Susan M.;
Hildebrandt, Friedhelm;
Wojcik, Monica H.

Publication type:

Article

An unusual presentation of late-onset Alexander's disease with slow orthostatic tremor and a novel GFAP variant.

Published in:

2018

By:

Stitt, Derek W.;
Gavrilova, Ralitza;
Watson, Robert;
Hassan, Anhar

Publication type:

journal article

Developmental delay, coarse facial features, and epilepsy in a patient with EXT2 gene variants.

Published in:

Clinical Case Reports, 2019, v. 7, n. 4, p. 632, doi. 10.1002/ccr3.2010

By:

Gupta, Aditi;
Ewing, Sarah A.;
Renaud, Deborah L.;
Hasadsri, Linda;
Raymond, Kimiyo M.;
Klee, Eric W.;
Gavrilova, Ralitza H.

Publication type:

Article

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

Published in:

2011

By:

Gurrieri, Carmelina;
Kivela, Jonathon;
Bojanić, Katarina;
Gavrilova, Ralitza;
Flick, Randall;
Sprung, Juraj;
Weingarten, Toby

Publication type:

Report

Mitochondrial myopathies diagnosed in adulthood: clinico-genetic spectrum and long-term outcomes.

Published in:

Brain Communications, 2024, v. 6, n. 2, p. 1, doi. 10.1093/braincomms/fcae041

By:

Beecher, Grayson;
Gavrilova, Ralitza H;
Mandrekar, Jay;
Naddaf, Elie

Publication type:

Article

Brain MR Spectroscopy Changes Precede Frontotemporal Lobar Degeneration Phenoconversion in Mapt Mutation Carriers.

Published in:

2019

By:

Chen, Qin;
Boeve, Bradley F.;
Tosakulwong, Nirubol;
Lesnick, Timothy;
Brushaber, Danielle;
Dheel, Christina;
Fields, Julie;
Forsberg, Leah;
Gavrilova, Ralitza;
Gearhart, Debra;
Haley, Dana;
Gunter, Jeffrey L.;
Graff‐Radford, Jonathan;
Jones, David;
Knopman, David;
Graff‐Radford, Neill;
Kraft, Ruth;
Lapid, Maria;
Rademakers, Rosa;
Wszolek, Zbigniew K.

Publication type:

journal article

SOS1‐Related Noonan Syndrome and Sudden Cardiac Arrest in the Absence of Cardiomyopathy—An Arrhythmia Phenotype?

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 3, p. 1, doi. 10.1002/ajmg.a.63912

By:

Cirelli, Michael A.;
Wackel, Philip;
Javed, Rabia;
Gavrilova, Ralitza;
Qureshi, M. Yasir;
Dearani, Joseph A.;
Boucher, Lauren M.;
Niaz, Talha

Publication type:

Article

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

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2798, doi. 10.1002/ajmg.a.40498

By:

Boczek, Nicole J.;
Lahner, Carrie A.;
Nguyen, Thuy‐mi;
Ferber, Matthew J.;
Hasadsri, Linda;
Thorland, Erik C.;
Niu, Zhiyv;
Gavrilova, Ralitza H.

Publication type:

Article

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

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1328, doi. 10.1002/ajmg.a.38113

By:

Boczek, Nicole J.;
Kruisselbrink, Teresa;
Cousin, Margot A.;
Blackburn, Patrick R.;
Klee, Eric W.;
Gavrilova, Ralitza H.;
Lanpher, Brendan C.

Publication type:

Article

Clinical delineation of the PACS1-related syndrome-Report on 19 patients.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 670, doi. 10.1002/ajmg.a.37476

By:

Schuurs‐Hoeijmakers, Janneke H. M.;
Landsverk, Megan L.;
Foulds, Nicola;
Kukolich, Mary K.;
Gavrilova, Ralitza H.;
Greville‐Heygate, Stephanie;
Hanson‐Kahn, Andrea;
Bernstein, Jonathan A.;
Glass, Jennifer;
Chitayat, David;
Burrow, Thomas A.;
Husami, Ammar;
Collins, Kathleen;
Wusik, Katie;
van der Aa, Nathalie;
Kooy, Frank;
Brown, Kate Tatton;
Gadzicki, Dorothea;
Kini, Usha;
Alvarez, Sara

Publication type:

Article

Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies.

Published in:

2017

By:

Masnada, Silvia;
Hedrich, Ulrike B. S.;
Gardella, Elena;
Schubert, Julian;
Kaiwar, Charu;
Klee, Eric W.;
Lanpher, Brendan C.;
Gavrilova, Ralitza H.;
Synofzik, Matthis;
Bast, Thomas;
Gorman, Kathleen;
King, Mary D.;
Allen, Nicholas M.;
Conroy, Judith;
Ben Zeev, Bruria;
Tzadok, Michal;
Korff, Christian;
Dubois, Fanny;
Ramsey, Keri;
Narayanan, Vinodh

Publication type:

journal article

Magnetic Resonance Imaging Correlates of Multiple Sclerosis Immunopathological Patterns.

Published in:

Annals of Neurology, 2021, v. 90, n. 3, p. 440, doi. 10.1002/ana.26163

By:

Metz, Imke;
Gavrilova, Ralitza H.;
Weigand, Stephen D.;
Frischer, Josa M.;
Popescu, Bogdan F.;
Guo, Yong;
Gloth, Mareike;
Tobin, William Oliver;
Zalewski, Nicholas L.;
Lassmann, Hans;
Tillema, Jan M.;
Erickson, Bradley J.;
Parisi, Joseph E.;
Becker, Stephanie;
König, Fatima B.;
Brück, Wolfgang;
Lucchinetti, Claudia F.

Publication type:

Article

Assessing patterns of network degeneration in familial frontotemporal lobar degeneration using FDG‐PET and unsupervised machine learning.

Published in:

Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2023, v. 19, p. 1, doi. 10.1002/alz.076725

By:

Corriveau‐Lecavalier, Nick;
Barnard, Leland R;
Przybelski, Scott A.;
Gogineni, Venkatsampath;
Botha, Hugo;
Radford, Jonathan Graff;
Ramanan, Vijay K;
Forsberg, Leah K.;
Fields, Julie A.;
Rademakers, Rosa;
Gavrilova, Ralitza H.;
Lapid, Maria I.;
Boeve, Brad F.;
Knopman, David S.;
Lowe, Val J.;
Petersen, Ronald C.;
Jack, Clifford R.;
Kantarci, Kejal;
Jones, David T.

Publication type:

Article

Demographic and psychosocial factors associated with the decision to learn mutation status in familial frontotemporal dementia and the impact of disclosure on mood.

Published in:

Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2021, v. 17, p. 1, doi. 10.1002/alz.050692

By:

Bajorek, Lynn P.;
Kiekhofer, Rachel;
Hall, Matthew;
Taylor, Joanne;
Lucente, Diane E;
Brushaber, Danielle;
Appleby, Brian;
Coppolla, Giovanni;
Bordelon, Yvette M;
Botha, Hugo;
Dickerson, Brad C;
Dickson, Dennis W;
Domoto‐Reilly, Kimiko;
Fagan, Anne M;
Fields, Julie A;
Fong, Jamie C;
Foroud, Tatiana M;
Forsberg, Leah K;
Galasko, Doug R;
Gavrilova, Ralitza H

Publication type:

Article

Neuroimaging and neuropsychological findings in MAPT N279K mutation phenoconverters: Neuropsychiatry and behavioral neurology/Behavioral neurology.

Published in:

Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2020, v. 16, n. 6, p. 1, doi. 10.1002/alz.046759

By:

Forsberg, Leah K.;
Fields, Julie A.;
Brushaber, Danielle;
Chen, Qin;
Kantarci, Kejal;
Senjem, Matthew L.;
Jack, Clifford R.;
Gavrilova, Ralitza H.;
Graff‐Radford, Jonathan;
Graff‐Radford, Neill R.;
Jones, David T.;
Knopman, David S.;
Kremers, Walter K.;
Petersen, Ronald C.;
Savica, Rodolfo;
Syrjanen, Jeremy;
Rademakers, Rosa;
Wszolek, Zbigniew;
Boeve, Bradley F.

Publication type:

Article

Neuropsychiatric abnormalities in familial frontotemporal dementia: Findings from the LEFFTDS Cohort: Neuropsychiatry and behavioral neurology: Neuropsychiatric symptoms in MCI and dementia.

Published in:

Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2020, v. 16, n. 6, p. 1, doi. 10.1002/alz.045505

By:

Forsberg, Leah K.;
Boeve, Bradley F.;
Rosen, Howard J.;
Boxer, Adam L.;
Syrjanen, Jeremy;
Brushaber, Danielle;
Coppolla, Giovanni;
Dickerson, Brad C.;
Fields, Julie A.;
Fong, Jamie;
Gavrilova, Ralitza H.;
Ghoshal, Nupur;
Goldman, Jill;
Graff‐Radford, Jonathan;
Graff‐Radford, Neill R.;
Grossman, Murray;
Heuer, Hilary W.;
Hsiung, Ging‐Yuek Robin;
Huey, Edward;
Irwin, David J.

Publication type:

Article

Neuroimaging and neuropsychological findings in MAPT N279K mutation phenoconverters: Neuropsychiatry and behavioral neurology/Behavioral neurology.

Published in:

Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2020, v. 16, n. 11, p. 1, doi. 10.1002/alz.046759

By:

Forsberg, Leah K.;
Fields, Julie A.;
Brushaber, Danielle;
Chen, Qin;
Kantarci, Kejal;
Senjem, Matthew L.;
Jack, Clifford R.;
Gavrilova, Ralitza H.;
Graff‐Radford, Jonathan;
Graff‐Radford, Neill R.;
Jones, David T.;
Knopman, David S.;
Kremers, Walter K.;
Petersen, Ronald C.;
Savica, Rodolfo;
Syrjanen, Jeremy;
Rademakers, Rosa;
Wszolek, Zbigniew;
Boeve, Bradley F.

Publication type:

Article

Neuropsychiatric abnormalities in familial frontotemporal dementia: Findings from the LEFFTDS Cohort: Neuropsychiatry and behavioral neurology: Neuropsychiatric symptoms in MCI and dementia.

Published in:

Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2020, v. 16, n. 11, p. 1, doi. 10.1002/alz.045505

By:

Forsberg, Leah K.;
Boeve, Bradley F.;
Rosen, Howard J.;
Boxer, Adam L.;
Syrjanen, Jeremy;
Brushaber, Danielle;
Coppolla, Giovanni;
Dickerson, Brad C.;
Fields, Julie A.;
Fong, Jamie;
Gavrilova, Ralitza H.;
Ghoshal, Nupur;
Goldman, Jill;
Graff‐Radford, Jonathan;
Graff‐Radford, Neill R.;
Grossman, Murray;
Heuer, Hilary W.;
Hsiung, Ging‐Yuek Robin;
Huey, Edward;
Irwin, David J.

Publication type:

Article

Quality of life and caregiver burden in familial frontotemporal lobar degeneration: Analyses of symptomatic and asymptomatic individuals within the LEFFTDS cohort.

Published in:

Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2020, v. 16, n. 8, p. 1115, doi. 10.1002/alz.12095

By:

Gentry, Melanie T.;
Lapid, Maria I.;
Syrjanen, Jeremy;
Calvert, Kendrick;
Hughes, Samantha;
Brushaber, Danielle;
Kremers, Walter;
Bove, Jessica;
Brannelly, Patrick;
Coppola, Giovanni;
Dheel, Christina;
Dickerson, Bradley;
Dickinson, Susan;
Faber, Kelley;
Fields, Julie;
Fong, Jamie;
Foroud, Tatiana;
Forsberg, Leah;
Gavrilova, Ralitza;
Gearhart, Deb

Publication type:

Article

The longitudinal evaluation of familial frontotemporal dementia subjects protocol: Framework and methodology.

Published in:

Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2020, v. 16, n. 1, p. 22, doi. 10.1016/j.jalz.2019.06.4947

By:

Boeve, Bradley;
Bove, Jessica;
Brannelly, Patrick;
Brushaber, Danielle;
Coppola, Giovanni;
Dever, Rielly;
Dheel, Christina;
Dickerson, Bradford;
Dickinson, Susan;
Faber, Kelley;
Fields, Julie;
Fong, Jamie;
Foroud, Tatiana;
Forsberg, Leah;
Gavrilova, Ralitza;
Gearhart, Debra;
Ghoshal, Nupur;
Goldman, Jennifer;
Graff‐Radford, Jonathan;
Graff‐Radford, Neill

Publication type:

Article

O4‐03‐01: FRONTOTEMPORAL LOBAR DEGENERATION RESEARCH IN NORTH AMERICA: PROGRESS IN THE ARTFL/LEFFTDS CONSORTIA.

Published in:

Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2019, v. 15, p. P1234, doi. 10.1016/j.jalz.2019.06.4752

By:

Heuer, Hilary W.;
Boxer, Adam L.;
Boeve, Bradley F.;
Rosen, Howard J.;
Forsberg, Leah K.;
Brushaber, Danielle;
Appleby, Brian;
Bordelon, Yvette M.;
Brannelly, Patrick;
Coppola, Giovanni;
Dickerson, Brad C.;
Dickinson, Susan;
Kimiko, Domoto-Reilly;
Faber, Kelley;
Fields, Julie A.;
Fong, Jamie;
Foroud, Tatiana M.;
Gavrilova, Ralitza H.;
Ghoshal, Nupur;
Goldman, Jill

Publication type:

Article

P3‐364: RATES OF LOBAR ATROPHY IN ASYMPTOMATIC MAPT MUTATION CARRIERS.

Published in:

Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2019, v. 15, p. P1085, doi. 10.1016/j.jalz.2019.06.3397

By:

Chen, Qin;
Boeve, Bradley F.;
Senjem, Matthew L.;
Tosakulwong, Nirubol;
Lesnick, Timothy G.;
Brushaber, Danielle;
Dheel, Christina;
Fields, Julie A.;
Forsberg, Leah K.;
Gavrilova, Ralitza H.;
Gearhart, Debra;
Graff-Radford, Jonathan;
Graff-Radford, Neill R.;
Jack, Clifford R.;
Jones, David T.;
Knopman, David S.;
Kremers, Walter K.;
Lapid, Maria I.;
Rademakers, Rosa;
Syrjanen, Jeremy

Publication type:

Article

P2‐329: TRACKING WHITE MATTER DEGENERATION IN ASYMPTOMATIC AND SYMPTOMATIC MAPT MUTATION CARRIERS WITH DTI.

Published in:

Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2019, v. 15, p. P714, doi. 10.1016/j.jalz.2019.06.2736

By:

Chen, Qin;
Boeve, Bradley F.;
Schwarz, Christopher G.;
Reid, Robert I.;
Tosakulwong, Nirubol;
Lesnick, Timothy G.;
Bove, Jessica;
Brannelly, Patrick;
Brushaber, Danielle;
Coppola, Giovanni;
Dheel, Christina;
Dickerson, Brad C.;
Dickinson, Susan;
Faber, Kelley;
Fields, Julie A.;
Fong, Jamie;
Foroud, Tatiana M.;
Forsberg, Leah K.;
Gavrilova, Ralitza H.;
Gearhart, Debra

Publication type:

Article

O2‐09‐06: TRAJECTORY OF LOBAR ATROPHY IN ASYMPTOMATIC AND SYMPTOMATIC GRN MUTATION CARRIERS: A LONGITUDINAL TBM‐SYN STUDY.

Published in:

Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2019, v. 15, p. P563, doi. 10.1016/j.jalz.2019.06.4504

By:

Chen, Qin;
Boeve, Bradley F.;
Senjem, Matthew L.;
Tosakulwong, Nirubol;
Lesnick, Timothy G.;
Brushaber, Danielle;
Dheel, Christina;
Fields, Julie A.;
Forsberg, Leah K.;
Gavrilova, Ralitza H.;
Gearhart, Debra;
Graff-Radford, Jonathan;
Graff-Radford, Neill R.;
Jack, Clifford R.;
Jones, David T.;
Knopman, David S.;
Kremers, Walter K.;
Lapid, Maria I.;
Rademakers, Rosa;
Syrjanen, Jeremy

Publication type:

Article

P2‐430: MR SPECTROSCOPY FROM FRONTAL LOBE AND POSTERIOR CINGULATE GYRUS IN ASYMPTOMATIC AND SYMPTOMATIC MICROTUBULE‐ASSOCIATED PROTEIN TAU (MAPT) MUTATION CARRIERS.

Published in:

Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2018, v. 14, p. P876, doi. 10.1016/j.jalz.2018.06.1122

By:

Chen, Qin;
Boeve, Bradley F.;
Brushaber, Danielle;
Dheel, Christina;
Fields, Julie A.;
Forsberg, Leah K.;
Gavrilova, Ralitza H.;
Gearhart, Debra;
Haley, Dana;
Graff-Radford, Jonathan;
Jones, David T.;
Knopman, David S.;
Graff-Radford, Neill R.;
Kraft, Ruth A.;
Lapid, Maria I.;
Rademakers, Rosa;
Syrjanen, Jeremy;
Wszolek, Zbigniew;
Rosen, Howard J.;
Boxer, Adam L.

Publication type:

Article

O2‐14‐01: CHARACTERISTICS AND PROGRESS OF 320 SUBJECTS IN THE LONGITUDINAL EVALUATION OF FAMILIAL FRONTOTEMPORAL DEMENTIA SUBJECTS (LEFFTDS) PROTOCOL.

Published in:

Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2018, v. 14, p. P656, doi. 10.1016/j.jalz.2018.06.2718

By:

Forsberg, Leah K.;
Boeve, Bradley F.;
Rosen, Howard J.;
Boxer, Adam L.;
Bove, Jessica;
Brushaber, Danielle;
Coppola, Giovanni;
Dheel, Christina;
Dickerson, Brad C.;
Dickinson, Susan;
Faber, Kelley;
Fields, Julie A.;
Fong, Jamie;
Foroud, Tatiana M.;
Gavrilova, Ralitza H.;
Gearhart, Debra;
Ghoshal, Nupur;
Goldman, Jill;
Graff-Radford, Jonathan;
Graff-Radford, Neill R.

Publication type:

Article

P1‐420: ACCELERATED NEUROCHEMICAL CHANGES PRIOR TO PHENOCONVERSION TO FRONTOTEMPORAL LOBAR DEGENERATION IN PRESYMPTOMATIC MICROTUBULE‐ASSOCIATED PROTEIN TAU (MAPT) MUTATION CARRIERS: A LONGITUDINAL MRS STUDY.

Published in:

Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2018, v. 14, p. P466, doi. 10.1016/j.jalz.2018.06.429

By:

Chen, Qin;
Boeve, Bradley F.;
Tosakulwong, Nirubol;
Lesnick, Timothy G.;
Brushaber, Danielle;
Dheel, Christina;
Fields, Julie A.;
Forsberg, Leah K.;
Gavrilova, Ralitza H.;
Gearhart, Debra;
Haley, Dana;
Gunter, Jeffrey L.;
Graff-Radford, Jonathan;
Jones, David T.;
Knopman, David S.;
Graff-Radford, Neill R.;
Kraft, Ruth A.;
Lapid, Maria I.;
Rademakers, Rosa;
Syrjanen, Jeremy

Publication type:

Article

P1‐281: NONLINEAR N‐SCORE ESTIMATION FOR ESTABLISHING COGNITIVE NORMS FROM THE NATIONAL ALZHEIMER'S COORDINATING CENTER (NACC) DATASET.

Published in:

Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2018, v. 14, p. P390, doi. 10.1016/j.jalz.2018.06.287

By:

Kornak, John;
Fields, Julie A.;
Farmer, Sarah;
Boeve, Bradley F.;
Rosen, Howard J.;
Boxer, Adam L.;
Bove, Jessica;
Brushaber, Danielle;
Coppola, Giovanni;
Dheel, Christina;
Dickerson, Brad C.;
Dickinson, Susan;
Faber, Kelley;
Fong, Jamie;
Foroud, Tatiana M.;
Forsberg, Leah K.;
Gavrilova, Ralitza H.;
Gearhart, Debra;
Ghoshal, Nupur;
Goldman, Jill

Publication type:

Article

O1‐08‐01: THE NIH‐EXAMINER IS SENSITIVE TO COGNITIVE CHANGES IN ASYMPTOMATIC AND MILDLY SYMPTOMATIC FAMILIAL FRONTOTEMPORAL DEMENTIA.

Published in:

Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2018, v. 14, p. P235, doi. 10.1016/j.jalz.2018.06.2372

By:

Staffaroni, Adam M.;
Bajorek, Lynn;
Ljubenkov, Peter;
Casaletto, Kaitlin;
Elahi, Fanny;
Rascovsky, Katya;
Boeve, Bradley F.;
Boxer, Adam L.;
Bove, Jessica;
Brushaber, Danielle;
Coppola, Giovanni;
Dheel, Christina;
Dickerson, Brad C.;
Fields, Julie A.;
Fong, Jamie;
Forsberg, Leah K.;
Gavrilova, Ralitza H.;
Gearhart, Debra;
Ghoshal, Nupur;
Goldman, Jill

Publication type:

Article

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

Published in:

2018

By:

Almeqdadi, Mohammad;
Kemppainen, Jennifer L.;
Pichurin, Pavel N.;
Gavrilova, Ralitza H.

Publication type:

Case Study

QUALITY OF LIFE AMONG SUBJECTS AND INFORMANTS IN FAMILIAL FRONTOTEMPORAL DEMENTIA: PRELIMINARY DATA IN THE LEFFTDS COHORT.

Published in:

Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2017, v. 13, p. P376, doi. 10.1016/j.jalz.2017.06.333

By:

Calvert, Kendrick J.;
Boeve, Brad F.;
Rosen, Howard J.;
Boxer, Adam L.;
Dheel, Christina;
Dickerson, Bradford C.;
Fields, Julie A.;
Gavrilova, Ralitza H.;
Ghoshal, Nupur;
Goldman, Jill;
Graff-Radford, Neill R.;
Grossman, Murray;
Heuer, Hilary;
Robin Hsiung, Ging-Yuek;
Huey, Edward D.;
Hughes, Samantha R.;
Irwin, David J.;
Knopman, David S.;
Kornak, John;
Kraft, Ruth A.

Publication type:

Article

PHENOCONVERSION FROM ASYMPTOMATIC TO MINIMALLY SYMPTOMATIC FTLD: PRELIMINARY DATA IN THE LEFFTDS COHORT.

Published in:

Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2017, v. 13, p. P739, doi. 10.1016/j.jalz.2017.06.971

By:

Boeve, Bradley F.;
Rosen, Howard;
Boxer, Adam;
Coppola, Giovanni;
Dheel, Christina;
Dickerson, Bradford C.;
Fields, Julie A.;
Fong, Jamie;
Gavrilova, Ralitza H.;
Ghoshal, Nupur;
Goldman, Jill;
Graff-Radford, Neill R.;
Grossman, Murray;
Heuer, Hilary;
Hsiao, John;
Robin Hsiung, Ging-Yuek;
Huey, Edward;
Irwin, David;
Knopman, David S.;
Kornak, John

Publication type:

Article

CAREGIVER BURDEN IN FAMILIAL FRONTOTEMPORAL DEMENTIA SUBJECTS: PRELIMINARY DATA IN THE LEFFTDS COHORT.

Published in:

Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2017, v. 13, p. P722, doi. 10.1016/j.jalz.2017.06.934

By:

Hughes, Samantha R.;
Boeve, Brad F.;
Rosen, Howard J.;
Boxer, Adam L.;
Calvert, Kendrick J.;
Dheel, Christina;
Dickerson, Bradford C.;
Fields, Julie A.;
Gavrilova, Ralitza H.;
Ghoshal, Nupur;
Goldman, Jill;
Graff-Radford, Neill R.;
Grossman, Murray;
Heuer, Hilary;
Robin Hsiung, Ging-Yuek;
Huey, Edward D.;
Irwin, David J.;
Knopman, David S.;
Kornak, John;
Kraft, Ruth A.

Publication type:

Article

CHARACTERISTICS AND PROGRESS ON THE INITIAL 209 SUBJECTS IN THE LONGITUDINAL EVALUATION OF FAMILIAL FRONTOTEMPORAL DEMENTIA SUBJECTS (LEFFTDS) PROTOCOL.

Published in:

Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2017, v. 13, p. P345, doi. 10.1016/j.jalz.2017.06.270

By:

Dheel, Christina M.;
Boeve, Brad F.;
Rosen, Howard J.;
Boxer, Adam L.;
Coppola, Giovanni;
Dickerson, Bradford C.;
Faber, Kelley;
Fields, Julie A.;
Foroud, Tatiana M.;
Gavrilova, Ralitza H.;
Ghoshal, Nupur;
Goldman, Jill;
Graff-Radford, Neil;
Grossman, Murray;
Heuer, Hilary;
Hsiao, John;
Robin Hsiung, Ging-Yuek;
Huey, Edward D.;
Irwin, David J.;
Kantarci, Kejal

Publication type:

Article

Longitudinal mri and neuropsychological changes in symptomatic frontotemporal lobar degeneration subjects with mutations in mapt, pgrn, and c9orf72.

Published in:

Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2014, v. 10, p. P213, doi. 10.1016/j.jalz.2014.04.284

By:

Graff-Radford, Jonathan;
Jones, David;
Weigand, Stephen;
Przybelski, Scott;
Whitwell, Jennifer Louise;
Senjem, Mathew;
Knopman, David S.;
Graff-Radford, Neill R.;
Josephs, Keith;
Wszolek, Zbigniew;
Vemuri, Prashanthi;
Fields, Julie A.;
Ferman, Tanis J.;
Lucas, John;
Lowe, Val J.;
Gavrilova, Ralitza;
Kuntz, Karen;
DeJesus Hernandez, Mariely;
Baker, Matthew;
Rademakers, Rosa

Publication type:

Article

Safety and efficacy of (+)‐epicatechin in subjects with Friedreich's ataxia: A phase II, open‐label, prospective study.

Published in:

Journal of Inherited Metabolic Disease, 2021, v. 44, n. 2, p. 502, doi. 10.1002/jimd.12285

By:

Qureshi, Muhammad Yasir;
Patterson, Marc C.;
Clark, Vicki;
Johnson, Jonathan N.;
Moutvic, Margaret A.;
Driscoll, Sherilyn W.;
Kemppainen, Jennifer L.;
Huston, John;
Anderson, Jeff R.;
Badley, Andrew D.;
Tebben, Peter J.;
Wackel, Philip;
Oglesbee, Devin;
Glockner, James;
Schreiner, George;
Dugar, Sundeep;
Touchette, Jillienne C.;
Gavrilova, Ralitza H.

Publication type:

Article

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

Published in:

2002

By:

Meyer, Michael A.;
Gavrilova, Ralitza H.

Publication type:

journal article

Clinicoradiographic and genetic features of cerebral small vessel disease indicate variability in mode of inheritance for monoallelic HTRA1 variants.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 10, p. 1, doi. 10.1002/mgg3.1799

By:

Muthusamy, Karthik;
Ferrer, Alejandro;
Klee, Eric W.;
Wierenga, Klaas J.;
Gavrilova, Ralitza H.

Publication type:

Article

Identification of an Alu element-mediated deletion in the promoter region of GNE in siblings with GNE myopathy.

Published in:

Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 4, p. 410, doi. 10.1002/mgg3.300

By:

Garland, Jennifer;
Stephen, Joshi;
Class, Bradley;
Gruber, Angela;
Ciccone, Carla;
Poliak, Aaron;
Hayes, Christina P.;
Singhal, Vandana;
Slota, Christina;
Perreault, John;
Gavrilova, Ralitza;
Shrader, Joseph A.;
Chittiboina, Prashant;
Joe, Galen;
Heiss, John;
Gahl, William A.;
Huizing, Marjan;
Carrillo, Nuria;
Malicdan, May Christine V.

Publication type:

Article

Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus: a new syndrome.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 6, p. 618, doi. 10.1038/ejhg.2011.275

By:

Babovic-Vuksanovic, D;
Messiaen, Ludwine;
Nagel, Christoph;
Brems, Hilde;
Scheithauer, Bernd;
Denayer, Ellen;
Mao, Rong;
Sciot, Raf;
Janowski, Karen M;
Schuhmann, Martin U;
Claes, Kathleen;
Beert, Eline;
Garrity, James A;
Spinner, Robert J;
Stemmer-Rachamimov, Anat;
Gavrilova, Ralitza;
Van Calenbergh, Frank;
Mautner, Victor;
Legius, Eric

Publication type:

Article

Peripapillary Chorioretinal Lacunae in a Girl With 3q21.3 to 3q22.1 Microdeletion With Features of Aicardi Syndrome.

Published in:

JAMA Ophthalmology, 2013, v. 131, n. 11, p. 1485, doi. 10.1001/jamaophthalmol.2013.4830

By:

Broomall, Eileen;
Renaud, Deborah;
Ghadban, Rafif;
Gavrilova, Ralitza;
Brodsky, Michael C.

Publication type:

Article

Peripapillary Chorioretinal Lacunae in a Girl With 3q21.3 to 3q22.1 Microdeletion With Features of Aicardi Syndrome.

Published in:

JAMA Ophthalmology, 2013, v. 131, n. 9, p. E1, doi. 10.1001/jamaophthalmol.2013.4830

By:

Broomall, Eileen;
Renaud, Deborah;
Ghadban, Rafif;
Gavrilova, Ralitza;
Brodsky, Michael C.

Publication type:

Article

Seizure Semiology, EEG, and Imaging Findings in Epilepsy Secondary to Mitochondrial Disease.

Published in:

Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.779052

By:

Fine, Anthony L.;
Liebo, Greta;
Gavrilova, Ralitza H.;
Britton, Jeffrey W.

Publication type:

Article

Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile.

Published in:

Clinical Epigenetics, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13148-021-01145-y

By:

Ciolfi, Andrea;
Foroutan, Aidin;
Capuano, Alessandro;
Pedace, Lucia;
Travaglini, Lorena;
Pizzi, Simone;
Andreani, Marco;
Miele, Evelina;
Invernizzi, Federica;
Reale, Chiara;
Panteghini, Celeste;
Iascone, Maria;
Niceta, Marcello;
Gavrilova, Ralitza H.;
Schultz-Rogers, Laura;
Agolini, Emanuele;
Bedeschi, Maria Francesca;
Prontera, Paolo;
Garibaldi, Matteo;
Galosi, Serena

Publication type:

Article

CAD -Related Disorder (EIEE-50) in an Infant With Cortical Visual Impairment.

Published in:

Journal of Child Neurology, 2024, v. 39, n. 5/6, p. 218, doi. 10.1177/08830738241255247

By:

Thurman, Sarah;
Fischer, Callie;
Guerin, Julie;
Gavrilova, Ralitza;
Brodsky, Michael

Publication type:

Article

Iron Deficiency and Its Role in Sleep Disruption in Patients With Angelman Syndrome.

Published in:

Journal of Child Neurology, 2020, v. 35, n. 14, p. 963, doi. 10.1177/0883073820941755

By:

Ryan, Conor S.;
Edlund, Wendy;
Mandrekar, Jay;
Wong-Kisiel, Lily C.;
Gavrilova, Ralitza H.;
Kotagal, Suresh

Publication type:

Article

High-Throughput Immunoassay for the Biochemical Diagnosis of Friedreich Ataxia in Dried Blood Spots and Whole Blood.

Published in:

Clinical Chemistry, 2013, v. 59, n. 10, p. 1461, doi. 10.1373/clinchem.2013.207472

By:

Oglesbee, Devin;
Kroll, Charles;
Gakh, Oleksandr;
Deutsch, Eric C.;
Lynch, David R.;
Gavrilova, Ralitza;
Tortorelli, Silvia;
Raymond, Kimiyo;
Gavrilov, Dimitar;
Rinaldo, Piero;
Matern, Dietrich;
Isaya, Grazia

Publication type:

Article

Valproate-Induced Worsening of Seizures: Clue to Underlying Diagnosis.

Published in:

2011

By:

Dhamija, Radhika;
Gavrilova, Ralitza H.;
Wirrell, Elaine C.

Publication type:

Case Study