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Finnish Variant of Gelsolin Amyloidosis in a South Indian Family: Clinical, Genetic, Ophthalmological, and Histopathological Findings 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 Share Save
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A Multinational Study of Patient and Caregiver-Reported Insights Into ADSS1 Myopathy 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 Share Save
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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 Share Save
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 Share Save
Titinopathies: Phenotype - genotype heterogeneity in an Indian cohort 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 Share Save
A rare case of myopathy with fatigability due to PYROXD1 variation 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 Share Save
Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing data sets 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 Share Save
Current insights in ultra-rare adenylosuccinate synthetase 1 myopathy - meeting report on the First Clinical and Scientific Conference. 3 June 2024, National Centre for Advancing Translational Science, Rockville, Maryland, the United States of America Rybalka, Emma; Park, Hyung Jun; Nalini, Atchayaram; Baskar, Dipti; Polavarapu, Kiran; Durmus, Hacer; Xia, Yang; Wan, Linlin; Shieh, Perry B.; Moghadaszadeh, Behzad; Beggs, Alan H.; Mack, David L.; Smith, Alec S. T.; Hanna-Rose, Wendy; Jinnah, Hyder A.; Timpani, Cara A.; Shen, Min; Upadhyay, Jaymin; Brault, Jeffrey J.; Hall, Matthew D.; Baweja, Naveen; Kakkar, Priyanka Share Save
MICU1 related myopathy - a rare report from India Baskar, Dipti; Ganji, Suma Reddy; Thomas, Aneesha; Polavarapu, Kiran; Nandeesh, Bevinahalli N.; Sanka, Sai Bhargava; Srivastava, Kosha; Kotambail, Ananthapadmanabha; Arunachal, Gautham; Boddu, Vijay Kumar; Nashi, Saraswati; Nalini, Atchayaram Share Save
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