1. Beyond Val30Met transthyretin (TTR): variants associated with age-at-onset in hereditary ATTRv amyloidosis. (3rd April 2021) Authors: Alves-Ferreira, Miguel; Azevedo, Ana; Coelho, Teresa; Santos, Diana; Sequeiros, Jorge; Alonso, Isabel; Sousa, Alda; Lemos, Carolina Journal: Amyloid Issue: Volume 28:Number 2(2021) Page Start: 100 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. C1QA and C1QC modify age‐at‐onset in familial amyloid polyneuropathy patients. Issue 4 (7th March 2019) Authors: Dias, Andreia; Santos, Diana; Coelho, Teresa; Alves‐Ferreira, Miguel; Sequeiros, Jorge; Alonso, Isabel; Sousa, Alda; Lemos, Carolina Journal: Annals of clinical and translational neurology Issue: Volume 6:Issue 4(2019) Page Start: 748 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Clinical and Genetic Characterization of Brazilian Patients with Ataxia and Oculomotor Apraxia. Issue 6 (14th April 2022) Authors: da Costa, Sophia Caldas Gonzaga; de Rezende‐Filho, Flávio c; de Freitas, Júlian Leticia; de Assis Pereira Matos, Paula Camila Alves; Della‐Ripa, Bruno; França, Marcondes Cavalcante; Marques, Wilson; Santos, Mariana; Cronemberger, Igor Vasconcelos Barros; Vale, Thiago Cardoso; Kok, Fernando; Alons... Journal: Movement disorders Issue: Volume 37:Issue 6(2022) Page Start: 1309 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Complex Movement Disorders in Ataxia with Oculomotor Apraxia Type 1: Beyond the Cerebellar Syndrome. (7th October 2020) Authors: Pedroso, José Luiz; Vale, Thiago Cardoso; da Costa, Sophia Caldas Gonzaga; Santos, Mariana; Alonso, Isabel; Barsottini, Orlando Graziani Povoas Journal: Tremor and other hyperkinetic movements Issue: Volume 10(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Diagnostic yield of next-generation sequencing applied to neurological disorders. (September 2019) Authors: Marques Matos, Cláudia; Alonso, Isabel; Leão, Miguel Journal: Journal of clinical neuroscience Issue: Volume 67(2019) Page Start: 14 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Familial amyloid polyneuropathy in Portugal: New genes modulating age‐at‐onset. Issue 2 (20th December 2016) Authors: Santos, Diana; Coelho, Teresa; Alves‐Ferreira, Miguel; Sequeiros, Jorge; Mendonça, Denisa; Alonso, Isabel; Lemos, Carolina; Sousa, Alda Journal: Annals of clinical and translational neurology Issue: Volume 4:Issue 2(2017) Page Start: 98 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Familial hemiplegic migraine due to L263V SCN1A mutation: Discordance for epilepsy between two kindreds from Douro Valley. (October 2014) Authors: Barros, José; Ferreira, Augusto; Brandão, Ana F; Lemos, Carolina; Correia, Fernando; Damásio, Joana; Tuna, Assunção; Sequeiros, Jorge; Coutinho, Paula; Alonso, Isabel; Pereira-Monteiro, José Journal: Cephalalgia Issue: Volume 34:Number 12(2014) Page Start: 1015 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Genetic Contributors to Intergenerational CAG Repeat Instability in Huntington's Disease Knock-In Mice. Issue 2 (1st February 2017) Authors: Neto, João Luís; Lee, Jong-Min; Afridi, Ali; Gillis, Tammy; Guide, Jolene R; Dempsey, Stephani; Lager, Brenda; Alonso, Isabel; Wheeler, Vanessa C; Pinto, Ricardo Mouro Journal: Genetics Issue: Volume 205:Issue 2(2017) Page Start: 503 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Genomic mechanisms underlying PARK2 large deletions identified in a cohort of patients with PD. (June 2016) Authors: Morais, Sara; Bastos-Ferreira, Rita; Sequeiros, Jorge; Alonso, Isabel Journal: Neurology Issue: Volume 2:Number 3(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Going Deep into Synaptic Vesicle Machinery Genes and Migraine Susceptibility – A Case‐Control Association Study. Issue 10 (26th September 2020) Authors: Quintas, Marlene; Neto, João Luís; Sequeiros, Jorge; Sousa, Alda; Pereira‐Monteiro, José; Lemos, Carolina; Alonso, Isabel Journal: Headache Issue: Volume 60:Issue 10(2020) Page Start: 2152 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗