1. An unusual presentation of late-onset Alexander's disease with slow orthostatic tremor and a novel GFAP variant. Issue 5 (2nd November 2018) Authors: Stitt, Derek W.; Gavrilova, Ralitza; Watson, Robert; Hassan, Anhar Journal: Neurocase Issue: Volume 24:Issue 5/6(2018) Page Start: 266 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Assessment of executive function declines in presymptomatic and mildly symptomatic familial frontotemporal dementia: NIH‐EXAMINER as a potential clinical trial endpoint. Issue 1 (8th January 2020) Authors: Staffaroni, Adam M.; Bajorek, Lynn; Casaletto, Kaitlin B.; Cobigo, Yann; Goh, Sheng‐Yang M.; Wolf, Amy; Heuer, Hilary W.; Elahi, Fanny M.; Ljubenkov, Peter A.; Dever, Reilly; Kornak, John; Appleby, Brian; Bove, Jessica; Bordelon, Yvette; Brannelly, Patrick; Brushaber, Danielle; Caso, Christina; C... Journal: Alzheimer's & dementia Issue: Volume 16:Issue 1(2020) Page Start: 11 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Brain MR Spectroscopy Changes Precede Frontotemporal Lobar Degeneration Phenoconversion in Mapt Mutation Carriers. Issue 5 (7th June 2019) Authors: 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, Rut... Journal: Journal of neuroimaging Issue: Volume 29:Issue 5(2019) Page Start: 624 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. F179. Notched delta, epilepsy and Angelman's syndrome genetics. (May 2018) Authors: Makke, Yamane; Britton, Jeffrey; Gavrilova, Ralitza; Wong-Kisiel, Lily Journal: Clinical neurophysiology Issue: Volume 129(2018)Supplement 1 Page Start: e135 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Frontal lobe 1H MR spectroscopy in asymptomatic and symptomatic MAPT mutation carriers. (20th August 2019) Authors: 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, Rut... Journal: Neurology Issue: Volume 93:Number 8(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Genetic screening of a large series of North American sporadic and familial frontotemporal dementia cases. Issue 1 (8th January 2020) Authors: Ramos, Eliana Marisa; Dokuru, Deepika Reddy; Van Berlo, Victoria; Wojta, Kevin; Wang, Qing; Huang, Alden Y.; Deverasetty, Sandeep; Qin, Yue; van Blitterswijk, Marka; Jackson, Jazmyne; Appleby, Brian; Bordelon, Yvette; Brannelly, Patrick; Brushaber, Danielle E.; Dickerson, Bradford; Dickinson, Sus... Journal: Alzheimer's & dementia Issue: Volume 16:Issue 1(2020) Page Start: 118 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Genomic deletions upstream of lamin B1 lead to atypical autosomal dominant leukodystrophy. (February 2019) Authors: Nmezi, Bruce; Giorgio, Elisa; Raininko, Raili; Lehman, Anna; Spielmann, Malte; Koenig, Mary Kay; Adejumo, Rahmat; Knight, Melissa; Gavrilova, Ralitza; Alturkustani, Murad; Sharma, Manas; Hammond, Robert; Gahl, William A.; Toro, Camilo; Brusco, Alfredo; Padiath, Quasar S. Journal: Neurology Issue: Volume 5:Number 1(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. IC‐02‐06: LONGITUDINAL CHANGES IN BRAIN MRI AND NEUROPSYCHOLOGICAL MEASURES IN ASYMPTOMATIC AND SYMPTOMATIC FAMILIAL FRONTOTEMPORAL LOBAR DEGENERATION WITH MUTATIONS IN MAPT. (1st July 2014) Authors: Jones, David Thomas; Weigand, Stephen; Przybelski, Scott; Graff‐Radford, Jonathan; Mathew, Senjem; Gunter, Jeffrey; Whitwell, Jennifer Louise; Knopman, David S.; Graff‐Radford, Neill R.; Josephs, Kieth; Wszolek, Zbigniew; Vemuri, Prashanthi; Fields, Julie A.; Machulda, Mary M.; Ferman, Tanis J.; ... Journal: Alzheimer's & dementia Issue: Volume 10:Supplement 4S(2014)Part 1 Page Start: P6 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Identification of an Alu element‐mediated deletion in the promoter region of GNE in siblings with GNE myopathy. Issue 4 (14th June 2017) Authors: 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; Ca... Journal: Molecular genetics & genomic medicine Issue: Volume 5:Issue 4(2017) Page Start: 410 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Individualized atrophy scores predict dementia onset in familial frontotemporal lobar degeneration. Issue 1 (6th January 2020) Authors: Staffaroni, Adam M.; Cobigo, Yann; Goh, Sheng‐Yang M.; Kornak, John; Bajorek, Lynn; Chiang, Kevin; Appleby, Brian; Bove, Jessica; Bordelon, Yvette; Brannelly, Patrick; Brushaber, Danielle; Caso, Christina; Coppola, Giovanni; Dever, Reilly; Dheel, Christina; Dickerson, Bradford C.; Dickinson, Susa... Journal: Alzheimer's & dementia Issue: Volume 16:Issue 1(2020) Page Start: 37 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗