日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants

从痉挛性截瘫到婴儿神经退行性疾病:扩展与双等位基因 SPAST 变异相关的表型谱

Degoutin, Manon; Angelini, Chloé; Bar, Claire; El Khedoud, Wahiba Amer; Barnerias, Christine; Boulariah-Hadjou, Razika; Estiar, Mehrdad A; Ewenczyk, Claire; Gan-Or, Ziv; Lacombe, Didier; Lefeuvre, Claire; Majethia, Purvi; Messaoud-Khelifi, Mouna; Narayanan, Dhanya Lakshmi; Rouleau, Guy A; Suchowersky, Oksana; Shukla, Anju; Guillaud-Bataille, Marine; Stevanin, Giovanni; Goizet, Cyril

Bi-Allelic Splicing Variant, c.153-2A > C in TOMM7 Is Associated With Leigh Syndrome

TOMM7基因中的双等位基因剪接变异c.153-2A>C与莱氏综合征相关

Yeole, Mayuri; Majethia, Purvi; Siddiqui, Shahyan; Girisha, Katta Mohan; Shukla, Anju; Radhakrishnan, Periyasamy; Bhat, Vivekananda

Neuroimaging to Genotype: Delineating the Spectrum of Disorders With Deficient Myelination in the Indian Population

从神经影像学到基因分型:描绘印度人群髓鞘形成缺陷疾病谱

Kaur, Namanpreet; do Rosario, Michelle C; Majethia, Purvi; Mascarenhas, Selinda; Rao, Lakshmi Priya; Nair, Karthik Vijay; Hunakunti, Bhagesh; Prasannakumar, Adarsh Pooradan; Naik, Rohit; Narayanan, Dhanya Lakshmi; Nayak, Shalini S; Bhat, Vivekananda; Sharma, Suvasini; Ramesh Bhat, Y; Yatheesha, B L; Kulkarni, Rajesh; Patil, Siddaramappa J; Nampoothiri, Sheela; Siddiqui, Shahyan; Girisha, Katta Mohan; Bielas, Stephanie; Shukla, Anju

Biallelic EPB41L3 variants underlie a developmental disorder with seizures and myelination defects.

双等位基因 EPB41L3 变异会导致一种发育障碍,伴有癫痫发作和髓鞘形成缺陷

Werren Elizabeth A, Rodriguez Bey Guillermo, Majethia Purvi, Kaur Parneet, Patil Siddaramappa J, Kekatpure Minal V, Afenjar Alexandra, Qebibo Leila, Burglen Lydie, Tomoum Hoda, Demurger Florence, Duborg Christele, Siddiqui Shahyan, Tsan Yao-Chang, Abdullah Uzma, Ali Zafar, Saadi Saadia Maryam, Baig Shahid Mahmood, Houlden Henry, Maroofian Reza, Padiath Quasar Saleem, Bielas Stephanie L, Shukla Anju

De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India

印度神经发育队列中导致智力障碍的单基因综合征的新生变异

Pande, Shruti; Majethia, Purvi; Nair, Karthik; Rao, Lakshmi Priya; Mascarenhas, Selinda; Kaur, Namanpreet; do Rosario, Michelle C; Neethukrishna, Kausthubham; Chaurasia, Ankur; Hunakunti, Bhagesh; Jadhav, Nalesh; Xavier, Sruthy; Kumar, Jeevan; Bhat, Vivekananda; Bhavani, Gandham SriLakshmi; Narayanan, Dhanya Lakshmi; Yatheesha, B L; Patil, Siddaramappa J; Nampoothiri, Sheela; Kamath, Nutan; Aroor, Shrikiran; Bhat Y, Ramesh; Lewis, Leslie E; Sharma, Suvasini; Bajaj, Shruti; Sankhyan, Naveen; Siddiqui, Shahyan; Nayak, Shalini S; Bielas, Stephanie; Girisha, Katta Mohan; Shukla, Anju

Genetic and phenotypic landscape of pediatric-onset epilepsy in 142 Indian families: Counseling and therapeutic implications

印度142个家庭儿童期癫痫的遗传和表型特征:咨询和治疗意义

Majethia, Purvi; Kaur, Namanpreet; Mascarenhas, Selinda; Rao, Lakshmi Priya; Pande, Shruti; Narayanan, Dhanya Lakshmi; Bhat, Vivekananda; Nayak, Shalini S; Nair, Karthik Vijay; Prasannakumar, Adarsh Pooradan; Chaurasia, Ankur; Hunakunti, Bhagesh; Jadhav, Nalesh; Farooqui, Sheeba; Yeole, Mayuri; Kothiwale, Vishaka; Naik, Rohit; Bhat, Veena; Aroor, Shrikiran; Lewis, Leslie; Purkayastha, Jayashree; Bhat, Y Ramesh; Praveen, B K; Yatheesha, B L; Patil, Siddaramappa J; Nampoothiri, Sheela; Kamath, Nutan; Siddiqui, Shahyan; Bielas, Stephanie; Girisha, Katta Mohan; Sharma, Suvasini; Shukla, Anju

Report of a novel recurrent homozygous variant c.620A>T in three unrelated families with thiamine metabolism dysfunction syndrome 5 and review of literature

报告在三个互不相关的硫胺素代谢功能障碍综合征5型家族中发现一种新的复发性纯合变异c.620A>T,并进行文献综述

Mascarenhas, Selinda; Yeole, Mayuri; Rao, Lakshmi Priya; do Rosario, Michelle C; Majethia, Purvi; Nair, Karthik Vijay; Sharma, Suvasini; Barala, Praveen Kumar; Puri, Ratna Dua; Pal, Swasti; Siddiqui, Shahyan; Shukla, Anju

Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5

KCNH5 电压感应和孔道结构域错义变异个体的神经发育和癫痫表型

Happ, Hannah C; Sadleir, Lynette G; Zemel, Matthew; de Valles-Ibáñez, Guillem; Hildebrand, Michael S; McConkie-Rosell, Allyn; McDonald, Marie; May, Halie; Sands, Tristan; Aggarwal, Vimla; Elder, Christopher; Feyma, Timothy; Bayat, Allan; Møller, Rikke S; Fenger, Christina D; Klint Nielsen, Jens Erik; Datta, Anita N; Gorman, Kathleen M; King, Mary D; Linhares, Natalia D; Burton, Barbara K; Paras, Andrea; Ellard, Sian; Rankin, Julia; Shukla, Anju; Majethia, Purvi; Olson, Rory J; Muthusamy, Karthik; Schimmenti, Lisa A; Starnes, Keith; Sedláčková, Lucie; Štěrbová, Katalin; Vlčková, Markéta; Laššuthová, Petra; Jahodová, Alena; Porter, Brenda E; Couque, Nathalie; Colin, Estelle; Prouteau, Clément; Collet, Corinne; Smol, Thomas; Caumes, Roseline; Vansenne, Fleur; Bisulli, Francesca; Licchetta, Laura; Person, Richard; Torti, Erin; McWalter, Kirsty; Webster, Richard; Gerard, Elizabeth E; Lesca, Gaetan; Szepetowski, Pierre; Scheffer, Ingrid E; Mefford, Heather C; Carvill, Gemma L

Further evidence of biallelic variants in KCNK18 as a cause of intellectual disability and epilepsy with febrile seizure plus

进一步证据表明,KCNK18基因的双等位基因变异是导致智力障碍和伴有热性惊厥的癫痫的原因。

Majethia, Purvi; Harish, Rhea; Narayanan, Dhanya Lakshmi; B L, Yatheesha; Sharma, Suvasini; Shukla, Anju

Further evidence of affected females with a heterozygous variant in FGF13 causing X-linked developmental and epileptic encephalopathy 90

进一步证据表明,携带FGF13杂合变异的女性会患上X连锁发育性和癫痫性脑病90。

Narayanan, Dhanya Lakshmi; Majethia, Purvi; Shrikiran, Aroor; Siddiqui, Shahyan; Dalal, Ashwin; Shukla, Anju