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Dominant rhabdomyolysis linked to a recurrent ATP2A2 variant reducing SERCA2 function in muscle Malaichamy, Sivasankar; Idoux, Romane; Polavarapu, Kiran; Sikic, Katarina; Holla, Elisa; Thompson, Rachel; Spendiff, Sally; Schaenzer, Anne; Kuesters, Benno; Freeman, Emily; Hentschel, Andreas; O'Neil, Daniel; Carmona-Martinez, Ricardo; Dobelmann, Vera; Tucht, Calvin; Schouten, Meyke; Ruck, Tobias; Schara-Schmidt, Ulrike; Kamsteeg, Erik-Jan; Ramadza, Danijela Petkovic; Jakovcevic, Antonia; Zigman, Tamara; Cavka, Mislav; Karcagi, Veronika; Herczegfalvi, Agnes; Laurie, Steven; Matalonga, Leslie; Beltran, Sergi; Horvath, Rita; Voermans, Nicol; Roos, Andreas; Baric, Ivo; Lochmueller, Hanns 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
Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases (27 Sept, 10.1038/s41431-024-01699-4, 2024) Estevez-Arias, Berta; Matalonga, Leslie; Yubero, Delia; Polavarapu, Kiran; Codina, Anna; Ortez, Carlos; Carrera-Garcia, Laura; Exposito-Escudero, Jesica; Jou, Cristina; Meyer, Stefanie; Kilicarslan, Ozge Aksel; Aleman, Alberto; Thompson, Rachel; Luknarova, Rebeka; Esteve-Codina, Anna; Gut, Marta; Laurie, Steven; Demidov, German; Yepez, Vicente A.; Beltran, Sergi; Gagneur, Julien; Topf, Ana; Lochmueller, Hanns; Nascimento, Andres; Hoenicka, Janet; Palau, Francesc; Benito, Daniel Natera-de 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
Expanding the Molecular Genetic Landscape of Dystrophinopathies and Associated Phenotypes Neuhoff, Katja; Kilicarslan, Ozge Aksel; Preusse, Corinna; Zaum, Ann-Kathrin; Koelbel, Heike; Lochmueller, Hanns; Schara-Schmidt, Ulrike; Polavarapu, Kiran; Roos, Andreas; Gangfuss, Andrea 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
Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases Estevez-Arias, Berta; Matalonga, Leslie; Yubero, Delia; Polavarapu, Kiran; Codina, Anna; Ortez, Carlos; Carrera-Garcia, Laura; Exposito-Escudero, Jesica; Jou, Cristina; Meyer, Stefanie; Kilicarslan, Ozge Aksel; Aleman, Alberto; Thompson, Rachel; Luknarova, Rebeka; Esteve-Codina, Anna; Gut, Marta; Laurie, Steven; Demidov, German; Yepez, Vicente A.; Beltran, Sergi; Gagneur, Julien; Topf, Ana; Lochmueller, Hanns; Nascimento, Andres; Hoenicka, Janet; Palau, Francesc; Natera-de Benito, Daniel Share Save
Advancing the Understanding of Vesicle-Associated Membrane Protein 1-Related Congenital Myasthenic Syndrome: Phenotypic Insights, Favorable Response to 3,4-Diaminopyridine, and Clinical Characterization of Five New Cases Natera-deBenito, Daniel; Pugliese, Alessia; Polavarapu, Kiran; Guergueltcheva, Velina; Tournev, Ivailo; Todorova, Albena; Ribeiro, Joana Afonso; Fernandez-Mayoralas, Daniel M.; Ortez, Carlos; Martorell, Loreto; Estevez-Arias, Berta; Matalonga, Leslie; Laurie, Steven; Jou, Cristina; Lau, Jarred; Thompson, Rachel; Shen, Xinming; Engel, Andrew G.; Nascimento, Andres; Lochmuller, Hanns; Selcen, Duygu Share Save
Clinical and Genetic Heterogeneity of Nuclear Envelopathy Related Muscular Dystrophies in an Indian Cohort Baskar, Dipti; Preethish-Kumar, Veeramani; Polavarapu, Kiran; Vengalil, Seena; Nashi, Saraswati; Menon, Deepak; Harikrishna, Ganaraja Valakunja; Girija, Manu Santhappan; Nandeesh, Bevinahalli Nanjegowda; Arunachal, Gautham; Nalini, Atchayaram Share Save
Phenotype-Genotype Correlation of a Cohort of Patients with Congenital Myopathy: A Single Centre Experience from India 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 Share Save
Increased Diagnostic Yield by Reanalysis of Whole Exome Sequencing Data in Mitochondrial Disease Olimpio, Catarina; Paramonov, Ida; Matalonga, Leslie; Laurie, Steven; Schon, Katherine; Polavarapu, Kiran; Kirschner, Janbernd; Schara-Schmidt, Ulrike; Lochmueller, Hanns; Chinnery, Patrick F.; Horvath, Rita Share Save
Childhood-Onset Myopathy With Preserved Ambulation Caused by a Recurrent ADSSL1 Missense Variant Baskar, Dipti; Polavarapu, Kiran; Preethish-Kumar, Veeramani; Vengalil, Seena; Nashi, Saraswati; Toepf, Ana; Thomas, Aneesha; Sanka, Sai Bhargava; Menon, Deepak; Srivastava, Kosha; Arunachal, Gautham; Nandeesh, Bevinahalli N.; Lochmueller, Hanns; Nalini, Atchayaram Share Save
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