1. Biallelic loss of EMC10 leads to mild to severe intellectual disability. Issue 7 (9th June 2022) Authors: Kaiyrzhanov, Rauan; Rocca, Clarissa; Suri, Mohnish; Gulieva, Sughra; Zaki, Maha S.; Henig, Noa Z.; Siquier, Karine; Guliyeva, Ulviyya; Mounir, Samir M.; Marom, Daphna; Allahverdiyeva, Aynur; Megahed, Hisham; van Bokhoven, Hans; Cantagrel, Vincent; Rad, Aboulfazl; Pourkeramti, Alemeh; Dehghani, Bo... Journal: Annals of clinical and translational neurology Issue: Volume 9:Issue 7(2022) Page Start: 1080 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia. Issue 2 (28th May 2022) Authors: Calame, Daniel G.; Herman, Isabella; Maroofian, Reza; Marshall, Aren E.; Donis, Karina Carvalho; Fatih, Jawid M.; Mitani, Tadahiro; Du, Haowei; Grochowski, Christopher M.; Sousa, Sergio B.; Gijavanekar, Charul; Bakhtiari, Somayeh; Ito, Yoko A.; Rocca, Clarissa; Hunter, Jill V.; Sutton, V. Reid; E... Journal: Annals of neurology Issue: Volume 92:Issue 2(2022) Page Start: 304 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Childhood‐Onset Choreo‐Dystonia Due to a Recurrent Novel Homozygous Nonsense HPCA Variant: Case Series and Literature Review. Issue 1 (23rd August 2022) Authors: Magrinelli, Francesca; Bhatia, Kailash P.; Beiraghi Toosi, Mehran; Arab, Fatemeh; Karimiani, Ehsan Ghayoor; Sedighzadeh, Sahar; Ansari, Behnaz; Neshatdoust, Maedeh; Rocca, Clarissa; Houlden, Henry; Maroofian, Reza Journal: Movement disorders clinical practice Issue: Volume 10:Issue 1(2023) Page Start: 101 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. GGPS1‐associated muscular dystrophy with and without hearing loss. Issue 9 (23rd July 2022) Authors: Kaiyrzhanov, Rauan; Perry, Luke; Rocca, Clarissa; Zaki, Maha S.; Hosny, Heba; Araujo Martins Moreno, Cristiane; Phadke, Rahul; Zaharieva, Irina; Camelo Gontijo, Clara; Beetz, Christian; Pini, Veronica; Movahedinia, Mojtaba; Zanoteli, Edmar; DiTroia, Stephanie; Vuillaumier‐Barrot, Sandrine; Isapof... Journal: Annals of clinical and translational neurology Issue: Volume 9:Issue 9(2022) Page Start: 1465 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. NOTCH2NLC Intermediate‐Length Repeat Expansion and Parkinson's Disease in Patients of European Descent. Issue 3 (11th January 2021) Authors: Yau, Wai Yan; Sullivan, Roisin; Rocca, Clarissa; Cali, Elisa; Vandrovcova, Jana; Wood, Nicholas W.; Houlden, Henry Journal: Annals of neurology Issue: Volume 89:Issue 3(2021) Page Start: 633 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗