Gene editing using CRISPR/Cas9 in neuromuscular disorders
Gonorazky, H, Maani, N, Khattak, S, Ivakine, Z, Cohn, R, Dowling, J
Published in Neuromuscular disorders : NMD (01.10.2016)
Published in Neuromuscular disorders : NMD (01.10.2016)
Get full text
Journal Article
Congenital myopathy with selective muscle atrophy, necklace-like fibres/central cores and craniosynostosis associated with recessive mutations in SCN4A
Gonorazky, H, Marshall, C, Hazrati, L, Männikkö, R, Ray, P, Yoon, G
Published in Neuromuscular disorders : NMD (01.10.2016)
Published in Neuromuscular disorders : NMD (01.10.2016)
Get full text
Journal Article
Filling in the gap between exome and genome: mRNA analysis as a clinical diagnosis tool
Gonorazky, H, Yoon, G, Sabha, N, Tsuchiya, E, Amburgey, K, Marshall, C, Dowling, J
Published in Neuromuscular disorders : NMD (01.10.2015)
Published in Neuromuscular disorders : NMD (01.10.2015)
Get full text
Journal Article
Inhibition of PIK3C2B as a treatment strategy for myotubular myopathy
Sabha, N, Volpatti, J, Gonorazky, H, Reifler, A, Davidson, A, Buj-Bello, A, Feldman, E, Dowling, J
Published in Neuromuscular disorders : NMD (01.10.2016)
Published in Neuromuscular disorders : NMD (01.10.2016)
Get full text
Journal Article
P.223 Electrophysiologic evidence of MORC2 pathogenic variant with motor neuron involvement: a case report
Mekmangkonthong, A., Yoon, G., Aleman, A., Paiz, F., Gonorazky, H.
Published in Neuromuscular disorders : NMD (01.10.2022)
Published in Neuromuscular disorders : NMD (01.10.2022)
Get full text
Journal Article
MOTOR NEURON DISORDERS AND NEUROPATHIES
Alharthi, N., Qashqari, H., Aleman, A., Gonorazky, H.
Published in Neuromuscular disorders : NMD (01.10.2021)
Published in Neuromuscular disorders : NMD (01.10.2021)
Get full text
Journal Article
P66 Salbutamol therapy in a neuromuscular cohort
Nigro, E., Amburgey, K., Djordjevic, D., Alawneh, I., Gonorazky, H., Dowling, J.
Published in Neuromuscular disorders : NMD (01.10.2023)
Published in Neuromuscular disorders : NMD (01.10.2023)
Get full text
Journal Article
P.287Restoring expression of nebulin using CRISPR/CAS9
Gonorazky, H., Sabha, N., Granzier, H., Dowling, J.
Published in Neuromuscular disorders : NMD (01.10.2019)
Published in Neuromuscular disorders : NMD (01.10.2019)
Get full text
Journal Article
MOTOR NEURON DISORDERS AND NEUROPATHIES: EP.240 Charcot-Marie-Tooth disease, clinical and genetic features in a Canadian pediatric cohort
Alemán, A., Alharthi, N., Amburgey, K., Vajsar, J., Yoon, G., Bouchard, M., Dowling, J., Gonorazky, H.
Published in Neuromuscular disorders : NMD (01.10.2021)
Published in Neuromuscular disorders : NMD (01.10.2021)
Get full text
Journal Article
MOTOR NEURON DISORDERS AND NEUROPATHIES
Alemán, A., Alharthi, N., Amburgey, K., Vajsar, J., Yoon, G., Bouchard, M., Dowling, J., Gonorazky, H.
Published in Neuromuscular disorders : NMD (01.10.2021)
Published in Neuromuscular disorders : NMD (01.10.2021)
Get full text
Journal Article
CONGENITAL MYOPATHIES (CNM)
Gonorazky, H., Amburgey, K., Hawkins, C., Dowling, J.
Published in Neuromuscular disorders : NMD (01.10.2018)
Published in Neuromuscular disorders : NMD (01.10.2018)
Get full text
Journal Article