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

Mitochondrial DNA disorders in neuromuscular diseases in diverse populations

不同人群神经肌肉疾病中的线粒体DNA异常

Gao, Fei; Schon, Katherine R; Vandrovcova, Jana; Köken, Özlem Yayıcı; Raga, Sharika; Naidu, Kireshnee; Schoonen, Maryke; Rani, Nimita; Tomaselli, Pedro; Baskar, Dipti; Kapapa, Musambo; Polat, Ipek; Wilson, Lindsay A; Thangaraj, Kumarasamy; Yiş, Uluç; Nandeesh, Bevinahalli N; Bearden, David; Kvalsund, Michelle; Henning, Franclo; Vengalil, Seena; Nalini, Atchayaram; Sobreira, Claudia F R; Marques, Wilson; Topoloğlu, Haluk; Hanna, Michael G; Yareeda, Sireesha; Vishnu, Venugopalan Y; van der Westhuizen, Francois H; Smuts, Izelle; Meldau, Surita; Wilmshurst, Jo; Çavdarlı, Büşranur; Heckmann, Jeannine; Chinnery, Patrick F; Horvath, Rita

Muscle MRI Pattern in Dysferlinopathy and its Correlation with Dysferlin Gait

肌纤维蛋白病患者的肌肉MRI模式及其与肌纤维蛋白步态的相关性

Chawla, Tanushree; Baskar, Dipti; Polavarapu, Kiran; Preethish-Kumar, Veeramani; Nashi, Saraswati; Vengalil, Seena; Kulanthaivelu, Karthik; Saini, Jitender; Huddar, Akshata; Unnikrishnan, Gopikrishnan; Nandeesh, Bevinahalli Nanjegowda; Nalini, Atchayaram

Childhood-Onset Myopathy With Preserved Ambulation Caused by a Recurrent ADSSL1 Missense Variant

由复发性 ADSSL1 错义变异引起的儿童期发病肌病,伴有行走能力保留

Baskar, Dipti; Polavarapu, Kiran; Preethish-Kumar, Veeramani; Vengalil, Seena; Nashi, Saraswati; Töpf, Ana; Thomas, Aneesha; Sanka, Sai Bhargava; Menon, Deepak; Srivastava, Kosha; Arunachal, Gautham; Nandeesh, Bevinahalli N; Lochmüller, Hanns; Nalini, Atchayaram

Phenotype-Genotype Correlation of a Cohort of Patients with Congenital Myopathy: A Single Centre Experience from India

印度单中心先天性肌病患者队列的表型-基因型相关性研究

Harikrishna, Ganaraja Valakunja; Padmanabha, Hansashree; Polavarapu, Kiran; Anjanappa, Ram Murthy; Preethish-Kumar, Veeramani; Nandeesh, Bevinahalli Nanjegowda; Vengalil, Seena; Nashi, Saraswati; Baskar, Dipti; Thomas, Aneesha; Bardhan, Mainak; Arunachal, Gautham; Menon, Deepak; Sanka, Sai Bhargava; Manjunath, Nisha; Nalini, Atchayaram

Adult-Onset Neuronal Ceroid Lipofuscinosis: CLN5 Variant Presenting as Focal Dystonia

成人发病型神经元蜡样脂褐质沉积症:CLN5变异型表现为局灶性肌张力障碍

Madhavi, Karri; Kandadai, Rukmini Mridula; Kola, Sruthi; Borgohain, Rupam; Alugolu, Rajesh; Prasad, Vvsrk; Nandeesh, Bevinahalli N; Govindaraj, Periyasamy

Neuromuscular disease genetics in under-represented populations: increasing data diversity

神经肌肉疾病遗传学在代表性不足人群中的研究:提高数据多样性

Wilson, Lindsay A; Macken, William L; Perry, Luke D; Record, Christopher J; Schon, Katherine R; Frezatti, Rodrigo S S; Raga, Sharika; Naidu, Kireshnee; Köken, Özlem Yayıcı; Polat, Ipek; Kapapa, Musambo M; Dominik, Natalia; Efthymiou, Stephanie; Morsy, Heba; Nel, Melissa; Fassad, Mahmoud R; Gao, Fei; Patel, Krutik; Schoonen, Maryke; Bisschoff, Michelle; Vorster, Armand; Jonvik, Hallgeir; Human, Ronel; Lubbe, Elsa; Nonyane, Malebo; Vengalil, Seena; Nashi, Saraswati; Srivastava, Kosha; Lemmers, Richard J L F; Reyaz, Alisha; Mishra, Rinkle; Töpf, Ana; Trainor, Christina I; Steyn, Elizabeth C; Mahungu, Amokelani C; van der Vliet, Patrick J; Ceylan, Ahmet Cevdet; Hiz, A Semra; Çavdarlı, Büşranur; Semerci Gündüz, C Nur; Ceylan, Gülay Güleç; Nagappa, Madhu; Tallapaka, Karthik B; Govindaraj, Periyasamy; van der Maarel, Silvère M; Narayanappa, Gayathri; Nandeesh, Bevinahalli N; Wa Somwe, Somwe; Bearden, David R; Kvalsund, Michelle P; Ramdharry, Gita M; Oktay, Yavuz; Yiş, Uluç; Topaloğlu, Haluk; Sarkozy, Anna; Bugiardini, Enrico; Henning, Franclo; Wilmshurst, Jo M; Heckmann, Jeannine M; McFarland, Robert; Taylor, Robert W; Smuts, Izelle; van der Westhuizen, Francois H; Sobreira, Claudia Ferreira da Rosa; Tomaselli, Pedro J; Marques, Wilson Jr; Bhatia, Rohit; Dalal, Ashwin; Srivastava, M V Padma; Yareeda, Sireesha; Nalini, Atchayaram; Vishnu, Venugopalan Y; Thangaraj, Kumarasamy; Straub, Volker; Horvath, Rita; Chinnery, Patrick F; Pitceathly, Robert D S; Muntoni, Francesco; Houlden, Henry; Vandrovcova, Jana; Reilly, Mary M; Hanna, Michael G

Phenotype Genotype Characterization of FKRP-related Muscular Dystrophy among Indian Patients

印度患者 FKRP 相关肌营养不良症的表型基因型特征

Gopikrishnan Unnikrishnan, Kiran Polavarapu, Mainak Bardhan, Saraswati Nashi, Seena Vengalil, Veeramani Preethish-Kumar, Ravi Kiran Valasani, Akshata Huddar, Vikas Nishadham, Bevinahalli Nanjegowda Nandeesh, Atchayaram Nalini

PET-MRI in idiopathic inflammatory myositis: a comparative study of clinical and immunological markers with imaging findings

PET-MRI在特发性炎症性肌炎中的应用:临床和免疫学标志物与影像学结果的比较研究

Girija, Manu Santhappan; Tiwari, Ravindu; Vengalil, Seena; Nashi, Saraswati; Preethish-Kumar, Veeramani; Polavarapu, Kiran; Kulanthaivelu, Karthik; Arbind, Arpana; Bardhan, Mainak; Huddar, Akshata; Unnikrishnan, Gopikrishnan; Kiran, Valasani Ravi; Chawla, Tanushree; Nandeesh, Bevinahalli; Nagaraj, Chandana; Nalini, Atchayaram

CSF1R Related Leukoencephalopathy - Rare Childhood Presentation of An Autosomal Dominant Microgliopathy!

CSF1R相关白质脑病——一种罕见的常染色体显性遗传性小胶质细胞病儿童期表现!

Sriram, Neeharika; Padmanabha, Hansashree; Chandra, Sadanandavalli R; Mahale, Rohan; Nandeesh, Bevinahalli; Bhat, Maya D; Christopher, Rita; Gupta, Manisha; Udupi, Gautham A; Mailankody, Pooja; Mathuranath, Pavagada S

Mutation Spectrum of Primary Lipid Storage Myopathies

原发性脂质贮积性肌病的突变谱

Vengalil, Seena; Polavarapu, Kiran; Preethish-Kumar, Veeramani; Nashi, Saraswati; Arunachal, Gautham; Chawla, Tanushree; Bardhan, Mainak; Mohan, Dhaarini; Christopher, Rita; Bevinahalli, Nandeesh; Kulanthaivelu, Karthik; Nishino, Ichizo; Faruq, Mohammad; Nalini, Atchayaram