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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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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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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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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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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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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Newborn Screening for Spinal Muscular Atrophy: Ontario Testing and Follow-up Recommendations von McMillan, Hugh J., Kernohan, Kristin D., Yeh, Ed, Amburgey, Kim, Boyd, Jennifer, Campbell, Craig, Dowling, James J., Gonorazky, Hernan, Marcadier, Janet, Tarnopolsky, Mark A., Vajsar, Jiri, MacKenzie, Alex, Chakraborty, Pranesh

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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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Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations von BÖHM, Johann, BIANCALANA, Valérie, LAFORET, Pascal, MAISONOBE, Thierry, OLIVE, Montse, GONZALEZ-MERA, Laura, FARDEAU, Michel, CARRIERE, Nathalie, CLAVELOU, Pierre, EYMARD, Bruno, BITOUN, Marc, RENDU, John, MALFATTI, Edoardo, FAURE, Julien, WEIS, Joachim, MANDEL, Jean-Louis, ROMERO, Norma B, LAPORTE, Jocelyn, DONDAINE, Nicolas, KOCH, Catherine, VASLI, Nasim, KRESS, Wolfram, STRITTMATTER, Matthias, TARATUTO, Ana Lia, GONORAZKY, Hernan

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Case report: A case of spinal muscular atrophy in a preterm infant: risks and benefits of treatment von Nigro, Elisa, Grunebaum, Eyal, Kamath, Binita, Licht, Christoph, Malcolmson, Caroline, Jeewa, Aamir, Campbell, Craig, McMillan, Hugh, Chakraborty, Pranesh, Tarnopolsky, Mark, Gonorazky, Hernan

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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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Case report: Hereditary sensory autonomic neuropathy presenting as bifid deformity to the tongue von O’Hagan-Wong, Kelsey, Smith, Dana, Gonorazky, Hernan, Casas, Michael

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

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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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