High Prevalence of Peroneal Neuropathy Among Children During the COVID-19 Pandemic von Alemán, Alberto, Nigro, Elisa, Gonorazky, Hernán D.

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Treating pediatric neuromuscular disorders: The future is now von Dowling, James J., D. Gonorazky, Hernan, Cohn, Ronald D., Campbell, Craig

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Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease von Gonorazky, Hernan D., Naumenko, Sergey, Ramani, Arun K., Nelakuditi, Viswateja, Mashouri, Pouria, Wang, Peiqui, Kao, Dennis, Ohri, Krish, Viththiyapaskaran, Senthuri, Tarnopolsky, Mark A., Mathews, Katherine D., Moore, Steven A., Osorio, Andres N., Villanova, David, Kemaladewi, Dwi U., Cohn, Ronald D., Brudno, Michael, Dowling, James J.

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Spell Checking Nature: Versatility of CRISPR/Cas9 for Developing Treatments for Inherited Disorders von Wojtal, Daria, Kemaladewi, Dwi U., Malam, Zeenat, Abdullah, Sarah, Wong, Tatianna W.Y., Hyatt, Elzbieta, Baghestani, Zahra, Pereira, Sergio, Stavropoulos, James, Mouly, Vincent, Mamchaoui, Kamel, Muntoni, Francesco, Voit, Thomas, Gonorazky, Hernan D., Dowling, James J., Wilson, Michael D., Mendoza-Londono, Roberto, Ivakine, Evgueni A., Cohn, Ronald D.

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High Prevalence of Peroneal Neuropathy Among Children During the COVID-19 Pandemic von Alemán, Alberto, Nigro, Elisa, Gonorazky, Hernán D.

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Natural history of a mouse model of X-linked myotubular myopathy von Sarikaya, Ege, Sabha, Nesrin, Volpatti, Jonathan, Pannia, Emanuela, Maani, Nika, Gonorazky, Hernan D, Celik, Alper, Liang, Yijng, Onofre-Oliveira, Paula, Dowling, James J

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Expanding the spectrum of LAMB2: Pierson syndrome associated with neuromuscular junction disorder in two patients von Paiz, Freddy, Alawneh, Issa, Nigro, Elisa, Gonorazky, Hernan D.

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Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease von Gonorazky, Hernan D., Naumenko, Sergey, Ramani, Arun K., Nelakuditi, Viswateja, Mashouri, Pouria, Wang, Peiqui, Kao, Dennis, Ohri, Krish, Viththiyapaskaran, Senthuri, Tarnopolsky, Mark A., Mathews, Katherine D., Moore, Steven A., Osorio, Andres N., Villanova, David, Kemaladewi, Dwi U., Cohn, Ronald D., Brudno, Michael, Dowling, James J.

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Respiratory characteristics in children with spinal muscular atrophy type 1 receiving nusinersen von Xiao, Lena, Chiang, Jackie, Castro‐Codesal, Maria, Kolski, Hanna, Bedi, Prabhjot, Al Amrani, Fatema, Gonorazky, Hernan D., Amin, Reshma

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Clinical profile and multidisciplinary needs of patients with neuromuscular disorders transitioning from paediatric to adult care von Menon, Deepak, Gonorazky, Hernan D., Dowling, James J., McAdam, Laura, Ansari, Tasjeel, Vajsar, Jiri, Yoon, Grace, Bril, Vera, Katzberg, Hans

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Scoliosis in Spinal Muscular Atrophy Type 1 in the Nusinersen Era von Al Amrani, Fatima, Amin, Reshma, Chiang, Jackie, Xiao, Lena, Boyd, Jennifer, Law, Eugenia, Nigro, Elisa, Weinstock, Lauren, Stosic, Ana, Gonorazky, Hernan D

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Subacute demyelinating peripheral neuropathy as a novel presentation of late infantile metachromatic leukodystrophy von Gonorazky, Hernan D., Amburgey, Kimberly, Yoon, Grace, Vajsar, Jiri, Widjaja, Elysa, Dowling, James J.

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Signs and Symptoms in Congenital Myopathies von Gonorazky, Hernan D., Dowling, James J., Volpatti, Jonathan R., Vajsar, Jiri

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The Child & Youth CompreHensIve Longitudinal Database for Deep Brain Stimulation (CHILD-DBS) von Yan, Han, Siegel, Lauren, Breitbart, Sara, Gorodetsky, Carolina, Gonorazky, Hernan D., Yau, Ivanna, Go, Cristina, Donner, Elizabeth, Kalia, Suneil K., Fasano, Alfonso, Weil, Alexander G., Fallah, Aria, Ibrahim, George M.

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Uniparental disomy unveils a novel recessive mutation in POMT2 von Brun, Brianna N., Willer, Tobias, Darbro, Benjamin W., Gonorazky, Hernan D., Naumenko, Sergey, Dowling, James J., Campbell, Kevin P., Moore, Steven A., Mathews, Katherine D.

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Congenital myopathy with “corona” fibres, selective muscle atrophy, and craniosynostosis associated with novel recessive mutations in SCN4A von Gonorazky, Hernan D, Marshall, Christian R, Al-Murshed, Maryam, Hazrati, Lili-Naz, Thor, Michael G, Hanna, Michael G, Männikkö, Roope, Ray, Peter N, Yoon, Grace

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Biallelic LINE insertion mutation in HACD1 causing congenital myopathy von Al Amrani, Fatema, Gorodetsky, Carolina, Hazrati, Lili-Naz, Amburgey, Kimberly, Gonorazky, Hernan D., Dowling, James J.

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A novel intronic mutation in MTM1 detected by RNA analysis in a case of X-linked myotubular myopathy von Al-Hashim, Aqeela, Gonorazky, Hernan D, Amburgey, Kimberly, Das, Soma, Dowling, James J

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Triple A syndrome presenting as complicated hereditary spastic paraplegia von Leveille, Etienne, Gonorazky, Hernan D., Rioux, Marie‐France, Hazrati, Lili‐Naz, Ruskey, Jennifer A., Carnevale, Amanda, Spiegelman, Dan, Dionne‐Laporte, Alexandre, Rouleau, Guy A., Yoon, Grace, Gan‐Or, Ziv

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The emerging spectrum of neurodevelopmental comorbidities in early-onset Spinal Muscular Atrophy von Baranello, Giovanni, Roy, Susana Quijano, Servais, Laurent, Munell, Francina, Molinero, Mireia Alvarez, Natera de Benito, Daniel, Nascimento, Andres, Gomez-Andres, David, Comellas, Laura Costa, Exposito, Jessica, Tizzano, Eduardo F., Cuppen, Inge, Van der Pol, Ludo, Aleman, Alberto, Lochmuller, Hanns, McMillan, Hugh, Kirschner, Janbernd, Müller, Cornelia, Oskoui, Maryam, Masson, Riccardo, Bruno, Claudio, Gonorazky, Hernan D., Tesi-Rocha, Carolina, Yaworski, Amanda Marie, Zanoteli, Edmar, Mendonca, Rodrigo, D'Amico, Adele, Cumbo, Francesca, Tosi, Michele, Pane, Marika, Mercuri, Eugenio, Nardes, Flavia, Prufer, Alexandra, Arci, Brenda Klemm, Pascual, Samuel Ignacio, Fattal-Valevski, Aviva, De Waele, Liesbeth, Deconinck, Nicolas, Farrar, Michelle, Haberlova, Jana, Gomez-Garcia de la Banda, Marta, Childs, Anne-Marie, Martos, Cristina, Wraige, Elizabeth, Gowda, Vasantha, Illingworth, Marjorie, Ong, Min, Majundar, Anirban, Hughes, Imelda, Torne, Krupa, Willis, Tracey, Ramdas, Sithara, De Goede, Christian, Erbas, Yasemin, Brusa, Chiara, Scoto, Mariacristina, Muntoni, Francesco

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