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Finnish Variant of Gelsolin Amyloidosis in a South Indian Family: Clinical, Genetic, Ophthalmological, and Histopathological Findings 芬兰型凝溶胶蛋白淀粉样变性在一个南印度家庭中的临床表现、遗传学、眼科学及组织病理学发现 Keerthipriya, Muddasu S.; Kotambail, Ananthapadmanabha; Rao, Shilpa; John, Roshny; Deekshitha, Madhusudhan; Naik, Chaitra; Baskar, Dipti; Murthy, Vinay; Matada, Roopashree; Chillal, Geethanjali; Janardhan, Dadimudike C.; Vengalil, Seena; Nalini, Atchayaram 分享 收藏
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A Multinational Study of Patient and Caregiver-Reported Insights Into ADSS1 Myopathy 一项关于患者和照护者报告的ADSS1肌病相关见解的多国研究 Yekeduz, Merve Koc; Choi, Yunjung; Kim, Soo-Hyun; van Gool, Raquel; van der Heijden, Hanne; Vrolix, Lise; Cobb, Buket Sonbas; Rutkowe, Seward; Shulman, Julie; Beggs, Alan; Nalini, Atchayaram; Baskar, Dipti; Baweja, Naveen; Kakkar, Priyanka; Al-Hertani, Walla; Park, Hyung Jun; Upadhyay, Jaymin 分享 收藏
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Involvement of the Superior Cerebellar Peduncles in GAA-FGF14 Ataxia Chen, Shihan; Ashton, Catherine; Sakalla, Rawan; Clement, Guillemette; Planel, Sophie; Bonnet, Celine; Lamont, Phillipa J.; Kulanthaivelu, Karthik; Nalini, Atchayaram; Houlden, Henry; Duquette, Antoine; Dicaire, Marie-Josee; Iruzubieta Agudo, Pablo; Ruiz-Martinez, Javier; Marco De Lucas, Enrique; Sutil Berjon, Rodrigo; Infante Ceberio, Jon; Indelicato, Elisabetta; Boesch, Sylvia M.; Synofzik, Matthis; Bender, Benjamin; Danzi, Matt C.; Zuchner, Stephan; Pellerin, David; Brais, Bernard; Renaud, Mathilde; La Piana, Roberta 分享 收藏
Chocolate Chip Sign on Susceptibility-Weighted Imaging Ando, Shoichiro; Saito, Rie; Kitahara, Sho; Uemura, Masahiro; Hatano, Yuya; Watanabe, Masaki; Kato, Taisuke; Ito, Yosuke; Nalini, Atchayaram; Ishihara, Tomohiko; Murayama, Shigeo; Igarashi, Hironaka; Kakita, Akiyoshi; Onodera, Osamu 分享 收藏
Titinopathies: Phenotype - genotype heterogeneity in an Indian cohort Titinopathies:印度队列中的表型-基因型异质性 Baskar, Dipti; Vengalil, Seena; Polavarapu, Kiran; Preethish-Kumar, Veeramani; Nashi, Saraswati; Arunachal, Gautham; Srivastava, Kosha; Desai, Vaishnavi; Thomas, Priya Treesa; Keerthipriya, Muddasu Suhasini; Huddar, Akshata; Unnikrishnan, Gopikrishnan; Anjanappa, Ram Murthy; Nalini, Atchayaram 分享 收藏
A rare case of myopathy with fatigability due to PYROXD1 variation PYROXD1变异导致易疲劳性肌病的罕见病例 Baskar, Dipti; Thomas, Aneesha; Boddu, Vijay Kumar; Santhoshkumar, Rashmi; Anjanappa, Ram Murthy; Nashi, Saraswati; Srivastava, Kosha; Polavarapu, Kiran; Arunachal, Gautham; Kotambail, Ananthapadmanabha; Rao, Bhoomika; Mahadevan, Anita; Nalini, Atchayaram; Vengalil, Seena 分享 收藏
Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing data sets 在基因组、外显子组和基因 panel 测序数据集中诊断脊髓性肌萎缩症漏诊病例 Weisburd, Ben; Sharma, Rakshya; Pata, Villem; Reimand, Tiia; Ganesh, Vijay S.; Austin-Tse, Christina; Osei-Owusu, Ikeoluwa; O'Heir, Emily; O'Leary, Melanie; Pais, Lynn; Stafki, Seth A.; Daugherty, Audrey L.; Folland, Chiara; Peric, Stojan; Fahmy, Nagia; Udd, Bjarne; Horakova, Magda; Lusakowska, Anna; Manoj, Rajanna; Nalini, Atchayaram; Karcagi, Veronika; Polavarapu, Kiran; Lochmuller, Hanns; Horvath, Rita; Bonnemann, Carsten G.; Donkervoort, Sandra; Haliloglu, Goknur; Herguner, Ozlem; Kang, Peter B.; Scott, Hamish S.; Topf, Ana; Straub, Volker; Pajusalu, Sander; Ounap, Katrin; Tiao, Grace; Rehm, Heidi L.; O'Donnell-Luria, Anne 分享 收藏