Boby Varkey Maramattom
Boby Varkey Maramattom
Ritu Shree,Manoj K Goyal,Karthik V Mahesh et al.
Ritu Shree et al.
Vivek S Murumkar,Hima S Pendharkar,Shamick Biswas
Vivek S Murumkar
Unilateral Ophthalmoplegia - Unusual Presentation for a Clival Metastasis [0.03%]
颅底转移瘤的不寻常表现：单侧动眼神经麻痹
Surender,Tony Joseph Rappai,Ashok Kumar
Surender
Acute Hemichorea-Hemiballismus in Patients with Tuberculous Meningitis: An Atypical Manifestation of Stroke [0.03%]
结核性脑膜炎患者的急性偏侧舞蹈病-偏侧投掷症：不同于中风的不典型表现
Ravindra Kumar Garg,Imran Rizvi,Neeraj Kumar et al.
Ravindra Kumar Garg et al.
We report two cases of tuberculosis meningitis patients developing hemichorea-hemiballismus during antituberculosis treatment. First, a 56-year-old woman experienced right-sided hemichorea-hemiballismus 3 months into treatment. MRI scans re...
Giant Pituitary Adenoma Presenting with Craniovertebral Junction Instability: A Case Report and Review of Literature [0.03%]
巨大型垂体腺瘤合并颅颈交界区不稳定的病例报告及文献复习
Adarsh Patel,Nishit Shah,Chandrasekhar E Deopujari et al.
Adarsh Patel et al.
A 47-year-old man presented with a large midline skull base lesion, with panclival erosion leading to a very rare event of CV junction instability causing severe neck pain and movement restriction as the predominant symptom presented. Sub-t...
Expanding the Clinical, Pathological, and Molecular Phenotypes of Tetratricopeptide 19 (TTC19) Gene Mutations: A Case Report from India [0.03%]
TTC19基因突变的临床、病理和分子表型的扩展：来自印度的一例报告
M K Farsana,Gautham Arunachal,B N Nandeesh et al.
M K Farsana et al.
Tetratricopeptide 19 gene (TTC19) is involved in mitochondrial respiratory chain (MRC) complex III function. Mutations cause developmental delay, Leigh syndrome, and spinocerebellar ataxia. In this report, we highlight the expanding phenoty...
Whole Exome Sequencing Study of a Multizygotic Quadruplet Discordant for Autism Spectrum Disorder Reveals Novel Autism Candidate Genes [0.03%]
一项双卵四胞胎中仅部分孪生兄弟罹患自闭症光谱障碍的外显子组测序研究发现新的自闭症候选基因
Ayyappan Anitha,Moinak Banerjee,Ismail Thanseem et al.
Ayyappan Anitha et al.
Autism spectrum disorder (ASD) is a childhood-onset complex neurodevelopmental disorder. We carried out a comprehensive genetic study of a quadruplet discordant for ASD to identify the candidate genes of ASD. Whole exome sequencing (WES) wa...
Diaphragmatic Myoclonus Effectively Treated with Lacosamide: A Very Rare Phenomenon of Belly Dancer Syndrome [0.03%]
拉考沙胺有效治疗膈肌肌阵挛一例——罕见的肚皮舞综合征现象
Sandhya Manorenj,Bushra Naaz,Manju Madhavan
Sandhya Manorenj
Diaphragmatic myoclonus, also called diaphragmatic flutter, has characteristic abdominal movements resembling those of a belly dancer; hence, it is also called belly dancer syndrome (BDS). BDS is characterized by high-frequency involuntary ...