Neuromyelitis optica spectrum disorder and myelin oligodendrocyte glycoprotein associated disorder-optic neuritis: a comprehensive review of diagnosis and treatment von Gospe, Sidney M., Chen, John J., Bhatti, M. Tariq

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Hypoxia-mediated rescue of retinal ganglion cells deficient in mitochondrial complex I is independent of the hypoxia-inducible factor pathway von Warwick, Alexander M., Bomze, Howard M., Wang, Luyu, Hao, Ying, Stinnett, Sandra S., Gospe, Sidney M.

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Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10, a Manganese Transporter in Man von Tuschl, Karin, Clayton, Peter T., Gospe, Sidney M., Gulab, Shamshad, Ibrahim, Shahnaz, Singhi, Pratibha, Aulakh, Roosy, Ribeiro, Reinaldo T., Barsottini, Orlando G., Zaki, Maha S., Del Rosario, Maria Luz, Dyack, Sarah, Price, Victoria, Rideout, Andrea, Gordon, Kevin, Wevers, Ron A., “Kling” Chong, W.K., Mills, Philippa B.

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At this junction von Warwick, Alexander M., Gospe, Sidney M., Chen, John J.

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Continuous Hypoxia Reduces Retinal Ganglion Cell Degeneration in a Mouse Model of Mitochondrial Optic Neuropathy von Warwick, Alexander M, Bomze, Howard M, Wang, Luyu, Klingeborn, Mikael, Hao, Ying, Stinnett, Sandra S, Gospe, 3rd, Sidney M

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Telemedicine and Child Neurology von Lo, Mark D., Gospe, Sidney M.

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Generation of an Armcx1 Conditional Knockout Mouse von Bright, Cora L., Bomze, Howard M., Bhaumik, Mantu, Kay, Jeremy N., Cartoni, Romain, Gospe, Sidney M.

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Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency von Coughlin, Curtis R., Tseng, Laura A., Abdenur, Jose E., Ashmore, Catherine, Boemer, François, Bok, Levinus A., Boyer, Monica, Buhas, Daniela, Clayton, Peter T., Das, Anibh, Dekker, Hanka, Evangeliou, Athanasios, Feillet, François, Footitt, Emma J., Gospe, Sidney M., Hartmann, Hans, Kara, Majdi, Kristensen, Erle, Lee, Joy, Lilje, Rina, Longo, Nicola, Lunsing, Roelineke J., Mills, Philippa, Papadopoulou, Maria T., Pearl, Phillip L., Piazzon, Flavia, Plecko, Barbara, Saini, Arushi G., Santra, Saikat, Sjarif, Damayanti R., Stockler‐Ipsiroglu, Sylvia, Striano, Pasquale, Van Hove, Johan L.K., Verhoeven‐Duif, Nanda M., Wijburg, Frits A., Zuberi, Sameer M., Karnebeek, Clara D.M.

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Progressive optic atrophy in a retinal ganglion cell-specific mouse model of complex I deficiency von Wang, Luyu, Klingeborn, Mikael, Travis, Amanda M., Hao, Ying, Arshavsky, Vadim Y., Gospe, Sidney M.

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Pathology of inherited manganese transporter deficiency von Lechpammer, Mirna, Clegg, Michael S., Muzar, Zukhrofi, Huebner, Philip A., Jin, Lee-Way, Gospe Jr, Sidney M.

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Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy von Coughlin, Curtis R., Tseng, Laura A., Bok, Levinus A., Hartmann, Hans, Footitt, Emma, Striano, Pasquale, Tabarki, Brahim M., Lunsing, Roelineke J., Stockler-Ipsiroglu, Sylvia, Gordon, Shanlea, Van Hove, Johan L.K., Abdenur, Jose E., Boyer, Monica, Longo, Nicola, Andrews, Ashley, Janssen, Mirian C.H., van Wegberg, Annemiek, Prasad, Chitra, Prasad, Asuri N., Lamb, Molly M., Wijburg, Frits A., Gospe Jr, Sidney M., van Karnebeek, Clara

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Choline Acetyltransferase Mutations Causing Congenital Myasthenic Syndrome: Molecular Findings and Genotype-Phenotype Correlations von Arredondo, Juan, Lara, Marian, Gospe Jr, Sídney M., Mazia, Claudio G., Vaccarezza, Maria, Garcia-Erro, Marcela, Bowe, Constance M., Chang, Celia H., Mezei, Michelle M., Maselli, Ricardo A.

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Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy von Engelke, Udo F. H., van Outersterp, Rianne E., Merx, Jona, van Geenen, Fred A. M. G., van Rooij, Arno, Berden, Giel, Huigen, Marleen C. D. G., Kluijtmans, Leo A. J., Peters, Tessa M. A., Al-Shekaili, Hilal H., Leavitt, Blair R., de Vrieze, Erik, Broekman, Sanne, van Wijk, Erwin, Tseng, Laura A., Kulkarni, Purva, Rutjes, Floris P. J. T., Mecinovic, Jasmin, Struys, Eduard A., Jansen, Laura A., Gospe, Sidney M., Mercimek-Andrews, Saadet, Hyland, Keith, Willemsen, Michel A. A. P., Bok, Levinus A., van Karnebeek, Clara D. M., Wevers, Ron A., Boltje, Thomas J., Oomens, Jos, Martens, Jonathan, Coene, Karlien L. M.

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Facilitative glucose transporter Glut1 is actively excluded from rod outer segments von Gospe, Sidney M. III, Baker, Sheila A, Arshavsky, Vadim Y

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Adverse Effects of War and Armed Conflict on Children von Deputy, Stephen R., Khakoo, Yasmin, Gospe, Sidney M.

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Glial localization of antiquitin: Implications for pyridoxine-dependent epilepsy von Jansen, Laura A., Hevner, Robert F., Roden, William H., Hahn, Si Houn, Jung, Sunhee, Gospe Jr, Sidney M.

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Anatomic and visual function outcomes in paediatric idiopathic intracranial hypertension von Gospe, Sidney M, Bhatti, M Tariq, El-Dairi, Mays A

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Withholding Childhood Immunizations: A Parent’s Right or a Child’s Neglect? von Weisleder, Pedro, Gospe, Sidney M.

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Severe Leber Hereditary Optic Neuropathy Plus Disease in a Middle-Aged Man von Birnbaum, Faith A., Gospe, Sidney M.

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Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up von Stockler, Sylvia, Plecko, Barbara, Gospe, Jr, Sidney M, Coulter-Mackie, Marion, Connolly, Mary, van Karnebeek, Clara, Mercimek-Mahmutoglu, Saadet, Hartmann, Hans, Scharer, Gunter, Struijs, Eduard, Tein, Ingrid, Jakobs, Cornelis, Clayton, Peter, Van Hove, Johan L K

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