1. A Complete Association of an intronic SNP rs6798742 with Origin of Spinocerebellar Ataxia Type 7‐CAG Expansion Loci in the Indian and Mexican Population. (9th June 2017) Authors: Faruq, Mohammed; Magaña, Jonathan J.; Suroliya, Varun; Narang, Ankita; Murillo‐Melo, Nadia M.; Hernández‐Hernández, Oscar; Srivastava, Achal K.; Mukerji, Mitali Journal: Annals of human genetics Issue: Volume 81:Number 5(2017:Sep.) Page Start: 197 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A Novel Co‐existence of Spinocerebellar Ataxia 1 and Spinocerebellar Ataxia 2 Mutations in Indian Patients. Issue 5 (10th May 2022) Authors: Sharma, Pooja; Sonakar, Akhilesh K.; Goel, Vinay; Garg, Ajay; Srivastava, Achal K.; Faruq, Mohammed Journal: Movement disorders clinical practice Issue: Volume 9:Issue 5(2022) Page Start: 688 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A novel frameshift deletion in NAGLU causing sanfilipo type III‐B in an Indian family. Issue 12 (26th October 2018) Authors: Jain, Sweta; Chaitanya, Vamsee; Faruq, Mohammed Journal: Clinical case reports Issue: Volume 6:Issue 12(2018) Page Start: 2399 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A novel mutation in SLC39A14 causing hypermanganesemia associated with infantile onset dystonia. (23rd March 2018) Authors: Juneja, Monica; Shamim, Uzma; Joshi, Aditi; Mathur, Aaradhna; Uppili, Bharathram; Sairam, Smitha; Ambawat, Sakshi; Dixit, Rashmi; Faruq, Mohammed Journal: Journal of gene medicine Issue: Volume 20:Number 4(2018) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. An Indian child with Coats plus syndrome due to mutations in STN1. Issue 9 (6th July 2020) Authors: Passi, Gouri Rao; Shamim, Uzma; Rathore, Surabhi; Joshi, Aditi; Mathur, Aradhana; Parveen, Shaista; Sharma, Pooja; Crow, Yanick J.; Faruq, Mohammed Journal: American journal of medical genetics Issue: Volume 182:Issue 9(2020) Page Start: 2139 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Biallelic cGMP-dependent type II protein kinase gene (PRKG2) variants cause a novel acromesomelic dysplasia. Issue 1 (26th October 2020) Authors: Díaz-González, Francisca; Wadhwa, Saruchi; Rodriguez-Zabala, Maria; Kumar, Somesh; Aza-Carmona, Miriam; Sentchordi-Montané, Lucia; Alonso, Milagros; Ahmad, Istaq; Zahra, Sana; Kumar, Deepak; Kushwah, Neetu; Shamim, Uzma; Sait, Haseena; Kapoor, Seema; Roldán, Belen; Nishimura, Gen; Offiah, Amaka C... Journal: Journal of medical genetics Issue: Volume 59:Issue 1(2022) Page Start: 28 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Cerebellar Ataxia in Adults with SQSTM1‐Associated Frontotemporal Dementia–Amyotrophic Lateral Sclerosis Spectrum of Disorders. Issue 5 (28th April 2021) Authors: Mishra, Biswamohan; Rajan, Roopa; Gupta, Anu; Faruq, Mohammed; Shamim, Uzma; Parveen, Shaista; Garg, Ajay; Tripathi, Madhavi; Vishnu, Venugopalan Y.; Singh, Mamta Bhushan; Bhatia, Rohit; Srivastava, Padma Journal: Movement disorders clinical practice Issue: Volume 8:Issue 5(2021) Page Start: 800 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Clinical Profile and Treatment Outcomes of Hypermanganesemia with Dystonia 1 and 2 among 27 Indian Children. Issue 7 (12th August 2022) Authors: Garg, Divyani; Yoganathan, Sangeetha; Shamim, Uzma; Mankad, Kshitij; Gulati, Parveen; Bonifati, Vincenzo; Botre, Abhijeet; Kalane, Umesh; Saini, Arushi Gahlot; Sankhyan, Naveen; Srivastava, Kavita; Gowda, Vykuntaraju K.; Juneja, Monica; Kamate, Mahesh; Padmanabha, Hansashree; Panigrahi, Debasis; ... Journal: Movement disorders clinical practice Issue: Volume 9:Issue 7(2022) Page Start: 886 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Cognitive impairment in spinocerebellar ataxia type 12. (April 2021) Authors: Agarwal, Amit; Kaur, Harsimarpreet; Agarwal, Ayush; Nehra, Ashima; Pandey, Shivam; Garg, Ajay; Faruq, Mohammed; Rajan, Roopa; Shukla, Garima; Goyal, Vinay; Srivastava, Achal Kumar Journal: Parkinsonism & related disorders Issue: Volume 85(2021) Page Start: 52 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Encephalopathy due to defective mitochondrial and peroxisomal fission 2 caused by a novel MFF gene mutation in a young child. Issue 6 (24th March 2020) Authors: Panda, Isha; Ahmad, Istaq; Sagar, Shakti; Zahra, Sana; Shamim, Uzma; Sharma, Suvasini; Faruq, Mohammed Journal: Clinical genetics Issue: Volume 97:Issue 6(2020) Page Start: 933 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗