1. A randomized controlled trial of everolimus for neurocognitive symptoms in PTEN hamartoma tumor syndrome. Issue 20 (20th May 2022) Authors: Srivastava, Siddharth; Jo, Booil; Zhang, Bo; Frazier, Thomas; Gallagher, Anne Snow; Peck, Fleming; Levin, April R; Mondal, Sangeeta; Li, Zetan; Filip-Dhima, Rajna; Geisel, Gregory; Dies, Kira A; Diplock, Amelia; Eng, Charis; Hanna, Rabi; Sahin, Mustafa; Hardan, Antonio Journal: Human molecular genetics Issue: Volume 31:Issue 20(2022) Page Start: 3393 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Blended Phenotype of Silver-Russell Syndrome and SPG50 Caused by Maternal Isodisomy of Chromosome 7. (February 2021) Authors: Ziegler, Marvin; Russell, Bianca E.; Eberhardt, Kathrin; Geisel, Gregory; D'Amore, Angelica; Sahin, Mustafa; Kornblum, Harley I.; Ebrahimi-Fakhari, Darius Journal: Neurology Issue: Volume 7:Number 1(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Disease Severity and Motor Impairment Correlate With Health-Related Quality of Life in AP-4-Associated Hereditary Spastic Paraplegia. (August 2021) Authors: Jordan, Catherine; Geisel, Gregory; Alecu, Julian E.; Zhang, Bo; Sahin, Mustafa; Ebrahimi-Fakhari, Darius Journal: Neurology Issue: Volume 7:Number 4(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Systematic Analysis of Brain MRI Findings in Adaptor Protein Complex 4–Associated Hereditary Spastic Paraplegia. (9th November 2021) Authors: Ebrahimi-Fakhari, Darius; Alecu, Julian E.; Ziegler, Marvin; Geisel, Gregory; Jordan, Catherine; D'Amore, Angelica; Yeh, Rebecca C.; Akula, Shyam K.; Saffari, Afshin; Prabhu, Sanjay P.; Sahin, Mustafa; Yang, Edward Other Names: author non-byline.; Bulk Saskia author non-byline.; Depierreux Fr´ed´erique author non-byline.; Habibzadeh Parham author non-byline.; Iyer Anand S. author non-byline.; Kaminska Margaret author non-byline.; Kim Soyoung author non-byline.; King Staci D. author non-byline.; Mierzewska Hanna author ... Journal: Neurology Issue: Volume 97:Number 19(2021) Page Start: e1942 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Systematic Analysis of Brain MRI Findings in Adaptor Protein Complex 4–Associated Hereditary Spastic Paraplegia. (9th November 2021) Authors: Ebrahimi-Fakhari, Darius; Alecu, Julian E.; Ziegler, Marvin; Geisel, Gregory; Jordan, Catherine; D'Amore, Angelica; Yeh, Rebecca C.; Akula, Shyam K.; Saffari, Afshin; Prabhu, Sanjay P.; Sahin, Mustafa; Yang, Edward; Bulk, Saskia; Depierreux, Fr´ed´erique; Habibzadeh, Parham; Iyer, Anand S.; Kamin... Journal: Neurology Issue: Volume 97:Number 19(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗