Novel pathogenic SLC25A46 splice‐site mutation causes an optic atrophy spectrum disorder by Nguyen, M., Boesten, I., Hellebrekers, D. M. E. I., Mulder‐den Hartog, N. M., de Coo, I. F. M., Smeets, H. J. M., Gerards, M.

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PGD and heteroplasmic mitochondrial DNA point mutations: a systematic review estimating the chance of healthy offspring by Hellebrekers, D M E I, Wolfe, R, Hendrickx, A T M, de Coo, I F M, de Die, C E, Geraedts, J P M, Chinnery, P F, Smeets, H J M

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NDUFA9 point mutations cause a variable mitochondrial complex I assembly defect by Baertling, F., Sánchez‐Caballero, L., van den Brand, M.A.M., Fung, C.‐W., Chan, S.H.‐S., Wong, V.C.‐N., Hellebrekers, D.M.E., de Coo, I.F.M., Smeitink, J.A.M., Rodenburg, R.J.T., Nijtmans, L.G.J.

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Distal muscle weakness and optic atrophy without central nervous system involvement in a patient with a homozygous missense mutation in the C19ORF12-gene by de Vries, R.J., Jaeger, B., Hellebrekers, D.M.E.I., Reneman, L., Verhamme, C., Smeets, H.J.M., van Maarle, M.C., de Visser, M., Bleeker, F.E.

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Large scale mtDNA sequencing reveals sequence and functional conservation as major determinants of homoplasmic mtDNA variant distribution by Voets, A M, van den Bosch, B J C, Stassen, A P, Hendrickx, A T, Hellebrekers, D M, Van Laer, L, Van Eyken, E, Van Camp, G, Pyle, A, Baudouin, S V, Chinnery, P F, Smeets, H J M

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DMD/BMD – OUTCOME MEASURES by Koeks, Z., Hellebrekers, D., vd Velde, N., Alleman, I., Spitali, P., van Duyvenvoorde, H., Verschuuren, J., Hendriksen, J., Niks, E.

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DMD/BMD – OUTCOME MEASURES: EP.130 Minor cognitive impairments in adult males with Becker muscular dystrophy by Koeks, Z., Hellebrekers, D., vd Velde, N., Alleman, I., Spitali, P., van Duyvenvoorde, H., Verschuuren, J., Hendriksen, J., Niks, E.

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Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans by Le, Thuy-Linh, Galmiche, Louise, Levy, Jonathan, Suwannarat, Pim, Hellebrekers, Debby Mei, Morarach, Khomgrit, Boismoreau, Franck, Theunissen, Tom Ej, Lefebvre, Mathilde, Pelet, Anna, Martinovic, Jelena, Gelot, Antoinette, Guimiot, Fabien, Calleroz, Amanda, Gitiaux, Cyril, Hully, Marie, Goulet, Olivier, Chardot, Christophe, Drunat, Severine, Capri, Yline, Bole-Feysot, Christine, Nitschké, Patrick, Whalen, Sandra, Mouthon, Linda, Babcock, Holly E, Hofstra, Robert, de Coo, Irenaeus Fm, Tabet, Anne-Claude, Molina, Thierry J, Keren, Boris, Brooks, Alice, Smeets, Hubert Jm, Marklund, Ulrika, Gordon, Christopher T, Lyonnet, Stanislas, Amiel, Jeanne, Bondurand, Nadège

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A Young Patient With a Cardiomyopathy Caused by Mutations in the TAF1A Gene? by Helderman-van den Enden, A., Volders, P., Claes, G., Vanoevelen, J., Hellebrekers, D.

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EP.85Exploring the trainability of working memory and learning in Duchenne muscular dystrophy using computerized memory training by Hellebrekers, D., Lionarons, J., Wirken, J., Klinkenberg, S., Vles, J., Hendriksen, J.

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234 Role of mitochondrial DNA mutations in childhood MDS by de Vries, A, Zwaan, M, Beverloo, B, de Coo, I, Schoonderwoerd, G, Hendrickx, A, Hellebrekers, D, Smeets, H, Hasle, H, Polychronopoulou, S, Pieters, R, van den Heuvel-Eibrink, M

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G.P.3.09 Cerebellar ataxia, myopathy and sensorimotor neuropathy associated with a mitochondrial m.8363G > A tRNA(Lys) gene mutation: A clinical and biochemical study by Brusse, E, Korsten, A, Schoonderwoerd, G, Hellebrekers, D, Maat-Kievit, J.A, Smeets, H.J.M, Coo, I.F.M. De

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DUCHENNE MUSCULAR DYSTROPHY – CLINICAL: P.22Evaluation of methylphenidate in males with Duchenne muscular dystrophy and a comorbid attention deficit hyperactivity disorder: a preli... by Hellebrekers, D., Lionarons, J., Klinkenberg, S., Faber, C., Hendriksen, J., Vles, J.

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DUCHENNE MUSCULAR DYSTROPHY – CLINICAL by Hellebrekers, D., Lionarons, J., Klinkenberg, S., Faber, C., Hendriksen, J., Vles, J.

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P.35Parental repeat length instability in myotonic dystrophy type 1 pre- and protomutations by Joosten, I., Hellebrekers, D., de Greef, B., Smeets, H., de Die-Smulders, C., Faber, C., Gerrits, M.

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DUCHENNE MUSCULAR DYSTROPHY – CLINICAL: P.23Longitudinal follow-up of verbal working memory and processing speed in males with Duchenne muscular dystrophy by Hellebrekers, D., Doorenweerd, N., Sweere, D., Kuijk, S., Aartsma-Rus, A., Klinkenberg, S., Vles, J., Hendriksen, J.

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DUCHENNE MUSCULAR DYSTROPHY – CLINICAL by Hellebrekers, D., Doorenweerd, N., Sweere, D., Kuijk, S., Aartsma-Rus, A., Klinkenberg, S., Vles, J., Hendriksen, J.

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DMD TREATMENT: ANIMAL MODELS by Lionarons, J., Hoogland, G., Hendriksen, R., Faber, C., Hellebrekers, D., Van Koeveringe, G., Schipper, S., Vles, J.

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DMD TREATMENT: ANIMAL MODELS: P.209Dystrophin expression in the rat urinary bladder by Lionarons, J., Hoogland, G., Hendriksen, R., Faber, C., Hellebrekers, D., Van Koeveringe, G., Schipper, S., Vles, J.

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P086 Pediatric myelodysplastic syndrome in a family with mitochondrial DNA mutations by De Vries, A, Zwaan, C, de Coo, I, Hellebrekers, D, Hendrickx, A, Smeets, H, Beverloo, H, van den Heuvel-Eibrink, M

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