SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome von Zhu, Zhiqing, Yao, Jianbo, Johns, Timothy, Fu, Katherine, Bie, Isabelle De, Macmillan, Carol, Cuthbert, Andrew P., Newbold, Robert F., Wang, Jia-chi, Chevrette, Mario, Brown, Garry K., Brown, Ruth M., Shoubridge, Eric A.

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Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification von Schottlaender, Lucia V., Abeti, Rosella, Jaunmuktane, Zane, Macmillan, Carol, Chelban, Viorica, O’Callaghan, Benjamin, McKinley, John, Maroofian, Reza, Efthymiou, Stephanie, Athanasiou-Fragkouli, Alkyoni, Forbes, Raeburn, Soutar, Marc P.M., Livingston, John H., Kalmar, Bernardett, Swayne, Orlando, Hotton, Gary, Groppa, Stanislav, Karashova, Blagovesta Marinova, Nachbauer, Wolfgang, Boesch, Sylvia, Arning, Larissa, Timmann, Dagmar, Cormand, Bru, Pérez-Dueñas, Belen, Di Rosa, Gabriella, Goraya, Jatinder S., Sultan, Tipu, Mine, Jun, Avdjieva, Daniela, Kathom, Hadil, Tincheva, Radka, Banu, Selina, Pineda-Marfa, Mercedes, Veggiotti, Pierangelo, Ferrari, Michel D., Verrotti, Alberto, Marseglia, Giangluigi, Savasta, Salvatore, García-Silva, Mayte, Ruiz, Alfons Macaya, Garavaglia, Barbara, Borgione, Eugenia, Portaro, Simona, Sanchez, Benigno Monteagudo, Boles, Richard, Papacostas, Savvas, Vikelis, Michail, Papanicolaou, Eleni Zamba, Dardiotis, Efthymios, Maqbool, Shazia, Ibrahim, Shahnaz, Kirmani, Salman, Rana, Nuzhat Noureen, Atawneh, Osama, Koutsis, George, Breza, Marianthi, Mangano, Salvatore, Scuderi, Carmela, Morello, Giovanna, Stojkovic, Tanya, Zollo, Massimi, Heimer, Gali, Dauvilliers, Yves A., Striano, Pasquale, Al-Khawaja, Issam, Al-Mutairi, Fuad, Sherifa, Hamed, Pittman, Alan, Mendes de Oliveira, João Ricardo, de Grandis, Maria, Richard-Loendt, Angela, Launchbury, Francesca, Althonayan, Juri, McDonnell, Gavin, Carr, Aisling, Khan, Suliman, Beetz, Christian, Bisgin, Atil, Tug Bozdogan, Sevcan, Begtrup, Amber, Torti, Erin, Greensmith, Linda, Giunti, Paola, Morrison, Patrick J., Brandner, Sebastian, Aurrand-Lions, Michel, Houlden, Henry

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Clinical and neurocognitive issues associated with Bosch‐Boonstra‐Schaaf optic atrophy syndrome: A case study von Bojanek, Erin K., Mosconi, Matthew W., Guter, Stephen, Betancur, Catalina, Macmillan, Carol, Cook, Edwin H.

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De novo unbalanced translocation (4p duplication/8p deletion) in a patient with autism, OCD, and overgrowth syndrome von Sagar, Angela, Pinto, Dalila, Najjar, Fedra, Guter, Stephen J., Macmillan, Carol, Cook, Edwin H.

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Vitamin E in aging persons with Down syndrome: A randomized, placebo-controlled clinical trial von Sano, Mary, Aisen, Paul S, Andrews, Howard F, Tsai, Wei-Yann, Lai, Florence, Dalton, Arthur J

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Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobi... von Lippe, Charlotte, Tveten, Kristian, Prescott, Trine E., Holla, Øystein L., Busk, Øyvind L., Burke, Katherine B., Sansbury, Francis H., Baptista, Júlia, Fry, Andrew E., Lim, Derek, Jolles, Stephen, Evans, Jennifer, Osio, Deborah, Macmillan, Carol, Bruno, Irene, Faletra, Flavio, Climent, Salvador, Urreitzi, Roser, Hoenicka, Janet, Palau, Francesc, Cohen, Ana S. A., Engleman, Kendra, Zhou, Dihong, Amudhavalli, Shivarajan M., Jeanne, Médéric, Bonnet‐Brilhault, Frédérique, Lévy, Jonathan, Drunat, Séverine, Derive, Nicolas, Haug, Marte G., Thorstensen, Wenche M.

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Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification von Schottlaender, Lucia V, Abeti, Rosella, Jaunmuktane, Zane, Macmillan, Carol, Chelban, Viorica, O'Callaghan, Benjamin, McKinley, John, Maroofian, Reza, Efthymiou, Stepanie, Athanasiou Fragkouli, Alkyoni, Forbes, Raeburn, Soutar, Marc P.M, Livingston, John H, Kalmar, Bernadett, Swayne, Orlando, Hotton, Gary, SYNAPS Study Group, Pittman, Alan, Mendes de Oliveira, João Ricardo, de Grandis, Maria, Richard Loendt, Angela, Launchbury, Francesca, Althonayan, Juri, McDonnell, Gavin, Carr, Aisling S, Khan, Suliman, Beetz, Christian, Bisgin, Atil, Tug Bozdogan, Sevcan, Begtrup, Amber, Torti, Erin, Greensmith, Linda, Giunti, Paola, Morrison, Patrick J, Brandner, Sebastian, Aurrand Lions, Michael, Houlden, Henry, Cormand Rifà, Bru

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Disease characteristics and psychosocial factors: Explaining the expression of quality of life in childhood epilepsy von Ronen, Gabriel M, Streiner, David L, Verhey, Leonard H, Lach, Lucyna, Boyle, Michael H, Cunningham, Charles E, Rosenbaum, Peter L

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Eye movements in neurodevelopmental disorders von Sweeney, John A, Takarae, Yukari, Macmillan, Carol, Luna, Beatriz, Minshew, Nancy J

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Accuracy of a miniature intracranial pressure monitor, its function during magnetic resonance scanning, and assessment of image artifact generation von Macmillan, C S, Wild, J M, Andrews, P J, Marshall, I, Armitage, P A, Wardlaw, J M, Easton, V J, Cannon, J

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A “ Fille du Roy” Introduced the T14484C Leber Hereditary Optic Neuropathy Mutation in French Canadians von Laberge, Anne-Marie, Jomphe, Michèle, Houde, Louis, Vézina, Hélène, Tremblay, Marc, Desjardins, Bertrand, Labuda, Damian, St-Hilaire, Marc, Macmillan, Carol, Shoubridge, Eric A., Brais, Bernard

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Timing of perinatal human immunodeficiency virus type 1 infection and rate of neurodevelopment von SMITH, RENEE, MALEE, KATHLEEN, CHARURAT, MANHATTAN, MAGDER, LARRY, MELLINS, CLAUDE, MACMILLAN, CAROL, HITTLEMAN, JOAN, LASKY, TAMAR, LLORENTE, ANTOLIN, MD, JACK MOYE

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QTc dispersion as a marker for medical complications after severe subarachnoid haemorrhage von Macmillan, C. S. A., Andrews, P. J. D., Struthers, A. D.

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Mitochondrial DNA depletion: Prevalence in a pediatric population referred for neurologic evaluation von Macmillan, Carol J., Shoubridge, Eric A.

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(gamma)-sarcoglycanopathy in two Palestinian-American siblings von Russo Buzzini, Sergio R, Macmillan, Carol

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Genetics and developmental delay von Macmillan, Carol

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Trimethylamine production in the caeca and small intestine as a cause of fishy taints in eggs [Choline in the diet] von MARCH, B.E., MacMILLAN, CAROL

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Neurobehavioral Abnormalities in First-Degree Relatives of Individuals With Autism von Mosconi, Matthew W, Kay, Margaret, D'Cruz, Anna-Maria, Guter, Stephen, Kapur, Kush, Macmillan, Carol, Stanford, Lisa D, Sweeney, John A

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Insult after injury: pressure ulcers in trauma patients von Watts, D, Abrahams, E, MacMillan, C, Sanat, J, Silver, R, VanGorder, S, Waller, M, York, D

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Neurobehavioral Abnormalities in First-Degree Relatives of Individuals With Autism von Mosconi, Matthew W, Kay, Margaret, D’Cruz, Anna-Maria, Guter, Stephen, Kapur, Kush, Macmillan, Carol, Stanford, Lisa D, Sweeney, John A

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