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

ANXA11 Variant-Associated Adult-Onset Myopathy: A Novel Phenotype

ANXA11变异相关成人起病型肌病:一种新的表型

Mahale, Rohan R; Padmanabha, Hansashree; Mailankody, Pooja

A Rare Disease and a Novel Variant in an Indian patient with Cerebellar Ataxia: A Case of Gordon Holmes Syndrome

印度一名患有小脑共济失调的患者罹患罕见疾病并发现一种新型变异:戈登-霍姆斯综合征病例报告

Suhas, V P; Sukrutha, Ramya; Prasad, Chandrajit; Arunachal, Gautham; Mahale, Rohan; Padmanabha, Hansashree; Pavagada, Mathuranath; Mailankody, Pooja

VPS16-Associated Dystonia: A Cohort-Based Clinical, Imaging and Genetic Profile

VPS16相关肌张力障碍:基于队列的临床、影像学和基因特征分析

Mahale, Rohan R; Padmanabha, Hansashree

Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort

对印度大型先天性重症肌无力综合征队列进行临床和遗传特征分析

Polavarapu, Kiran; Sunitha, Balaraju; Töpf, Ana; Preethish-Kumar, Veeramani; Thompson, Rachel; Vengalil, Seena; Nashi, Saraswati; Bardhan, Mainak; Sanka, Sai Bhargava; Huddar, Akshata; Unnikrishnan, Gopikrishnan; Arunachal, Gautham; Girija, Manu Santhappan; Porter, Anna; Azuma, Yoshiteru; Lorenzoni, Paulo José; Baskar, Dipti; Anjanappa, Ram Murthy; Keertipriya, Madassu; Padmanabh, Hansashree; Harikrishna, Ganaraja Valakunja; Laurie, Steve; Matalonga, Leslie; Horvath, Rita; Nalini, Atchayaram; Lochmüller, Hanns

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

Late-Onset Presentation of Spastic Paraplegia 3A ( ATL1 -HSP) and Its Rare Occurrence with Multiple Spinal Neurofibromas

迟发型痉挛性截瘫3A型(ATL1-HSP)及其罕见的多发性脊髓神经纤维瘤合并症

Davuluri, Anudeep Ds; Ananthasubramanian, Sangeeth T; Nashi, Saraswati; Arshad, Faheem; Padmanabha, Hansashree; Vengalil, Seena; Mahale, Rohan; Mailankody, Pooja; Srijithesh, P R; Kulkarni, Girish B; Pavagada, Mathuranath S; Alladi, Suvarna; Nalini, Atchayaram

Melanin Incontinence, Infantile Stroke, and Negative Genetics in a Case of Incontinentia Pigmenti

黑色素失禁、婴儿卒中和色素失禁症病例的阴性遗传学

Ananthasubramanian, Sangeeth Thuppanattumadam; Chanrakant, Seemikeri Chinmayi; Kumar, Tumulu Seetam; Rajeswarie, Rangasamy Thiruvengadam; Udupi, Gautham Arunachal; Kenchiah, Raghavendra; Padmanabha, Hansashree

Pontine Tegmental Cap Dysplasia: A Rare Brainstem Malformation Mimicking Hereditary Sensory Autonomic Neuropathy

脑桥被盖发育不良:一种罕见的脑干畸形,其症状酷似遗传性感觉自主神经病

Nagaraj, A R; Shravanthi, Guduru; Kumar, Tumulu Seetam; Kenchiah, Raghavendra; Mahale, Rohan; Sandhya, M; Udupi, Gautham Arunachal; Mailankody, Pooja; Mathuranath, P S; Padmanabha, Hansashree

Cerebral Sparganosis - An Unusual Parasitic Infection Mimicking Cerebral Tuberculosis: Isolation of a Live Plerocercoid Larva of Spirometra mansoni

脑裂头蚴病——一种罕见的寄生虫感染,症状酷似脑结核:曼氏裂头蚴活体裂头蚴的分离

Rathore, Abhishek; Padmanabha, Hansashree; Mahale, Rohan; Arora, Ankit; Goyal, Aditi; Reddy, Jeevika; Sipani, Mahak; Pruthi, Nupur; Lingaraju, T S; Nagarathna, S; Yasha, T C; Saini, Jitender; Nashi, Saraswati; Pooja, M; Mathuranath, P S

Altered cerebellar lobular volumes correlate with clinical deficits in siblings and children with ASD: evidence from toddlers

小脑小叶体积改变与自闭症谱系障碍患儿及其兄弟姐妹的临床缺陷相关:来自幼儿的证据

Kumar, Manoj; Hiremath, Chandrakanta; Khokhar, Sunil Kumar; Bansal, Eshita; Sagar, Kommu John Vijay; Padmanabha, Hansashree; Girimaji, Akhila S; Narayan, Shweta; Kishore, M Thomas; Yamini, B K; Jac Fredo, A R; Saini, Jitender; Bharath, Rose Dawn