1. A homozygous mutation in SLC1A4 in siblings with severe intellectual disability and microcephaly. (28th May 2015) Authors: Srour, M.; Hamdan, F. F.; Gan‐Or, Z.; Labuda, D.; Nassif, C.; Oskoui, M.; Gana‐Weisz, M.; Orr‐Urtreger, A.; Rouleau, G.A.; Michaud, J.L. Journal: Clinical genetics Issue: Volume 88:Number 1(2015:Jul.) Page Start: E1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Analysis of dominant and recessive parkinsonism genes in REM sleep behavior disorder. (October 2020) Authors: Mufti, K.; Rudakou, U.; Yu, E.; Ruskey, J.A.; Asavesh, F.; Laurent, S.B.; Arnulf, I.; Hu, M.T.M.; Dauvilliers, Y.; Högl, B.; Stefani, A.; Holzknecht, E.; Monaca, C.C.; Abril, B.; Plazzi, G.; Antelmi, E.; Ferini-Strambi, L.; Heidbreder, A.; Young, P.; De Cock, V. Cochen Journal: Parkinsonism & related disorders Issue: Volume 79(2020) Supplement 1 Page Start: e27 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Analysis of heterozygous PRKN variants and copy number variations in Parkinson's disease. (October 2020) Authors: Yu, E.; Krohn, L.; Rudakov, U.; Mufti, K.; Ruskey, J.A.; Asayesh, F.; Estiar, M.A.; Spiegelman, D.; Greenbaum, L.; Dauvilliers, Y.; Dupre, N.; Rouleau, G.A.; Hassin-Baer, S.; Fon, E.A.; Alcalay, R.N.; Gan-Or, Z. Journal: Parkinsonism & related disorders Issue: Volume 79(2020) Supplement 1 Page Start: e28 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. GBA variants in REM sleep behavior disorder risk and conversion: a multicenter study. (October 2020) Authors: Krohn, L.; Ruskey, J.A.; Rudakou, U.; Leveille, E.; Asayesh, F.; Hu, M.T.M.; Arnulf, I.; Dauvilliers, Y.; Högl, B.; Stefani, A.; Monaca, C.C.; Abril, B.; Plazzi, G.; Antelmi, E.; Ferini-Strambi, L.; Heidbreder, A.; Boeve, B.F.; Espay, A.J.; Cochen de Cock, V.; Mollenhauer, B. Journal: Parkinsonism & related disorders Issue: Volume 79(2020) Supplement 1 Page Start: e26 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Loss of the proprioception and touch sensation channel PIEZO2 in siblings with a progressive form of contractures. Issue 3 (16th September 2016) Authors: Mahmud, A.A.; Nahid, N.A.; Nassif, C.; Sayeed, M.S.B.; Ahmed, M.U.; Parveen, M.; Khalil, M.I.; Islam, M.M.; Nahar, Z.; Rypens, F.; Hamdan, F.F.; Rouleau, G.A.; Hasnat, A.; Michaud, J.L. Journal: Clinical genetics Issue: Volume 91:Issue 3(2017) Page Start: 470 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. NPC1 variants are not associated with Parkinson's disease. (October 2020) Authors: Senkevich, K.; Amar Bencheikh, B. Ouled; Rudakou, U.; Yu, E.; Mufti, K.; Ruskey, J.A.; Asayesh, F.; Laurent, S.B.; Spiegelman, D.; Fahn, S.; Waters, C.; Monchi, O.; Dauvilliers, Y.; Alcalay, R.N.; Dupré, N.; Greenbaum, L.; Hassin-Baer, S.; Espay, A.J.; Rouleau, G.A.; Fon, E.A. Journal: Parkinsonism & related disorders Issue: Volume 79(2020) Supplement 1 Page Start: e31 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Posttranslational modifications & lithium's therapeutic effect—Potential biomarkers for clinical responses in psychiatric & neurodegenerative disorders. (August 2021) Authors: Khayachi, A.; Schorova, L.; Alda, M.; Rouleau, G.A.; Milnerwood, A.J. Journal: Neuroscience and biobehavioral reviews Issue: Volume 127(2021) Page Start: 424 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. The genetic landscape of hereditary spastic paraplegia in Canada. (October 2020) Authors: Estiar, M.A.; Yu, E.; Ruskey, J.A.; Leveille, E.; Asayesh, F.; Spiegelman, D.; Trempe, J.F.; Tarnopolsky, M.; Suchowersky, O.; Dupré, N.; Boycott, K.M.; Yoon, G.; Rouleau, G.A.; Gan-Or, Z. Journal: Parkinsonism & related disorders Issue: Volume 79(2020) Supplement 1 Page Start: e110 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care. Issue 3 (22nd September 2015) Authors: Sawyer, S.L.; Hartley, T.; Dyment, D.A.; Beaulieu, C.L.; Schwartzentruber, J.; Smith, A.; Bedford, H.M.; Bernard, G.; Bernier, F.P.; Brais, B.; Bulman, D.E.; Warman Chardon, J.; Chitayat, D.; Deladoëy, J.; Fernandez, B.A.; Frosk, P.; Geraghty, M.T.; Gerull, B.; Gibson, W.; Gow, R.M. Journal: Clinical genetics Issue: Volume 89:Issue 3(2016) Page Start: 275 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗