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HACE1 Deficiency Leads to Structural and Functional Neurodevelopmental Volume 5, Number 3, June 2019 Neurology.org/NG A peer-reviewed clinical and translational neurology open access journal ARTICLE HACE1 defi ciency leads to structural and functional neurodevelopmental defects e330 ARTICLE Novel pathogenic XK mutations in McLeod syndrome and interaction between XK protein and chorein e328 ARTICLE HTT haplogroups in Finnish patients with Huntington disease e334 ARTICLE Brain-derived neurotrophic factor, epigenetics in stroke skeletal muscle, and exercise training e331 TABLE OF CONTENTS Volume 5, Number 3, June 2019 Neurology.org/NG e331 Brain-derived neurotrophic factor, epigenetics in stroke skeletal muscle, and exercise training A.S.Ryan,H.Xu,F.M.Ivey,R.F.Macko,and C.E. Hafer-Macko Open Access e332 Novel pathogenic VPS13A gene mutations in Japanese patients with chorea-acanthocytosis Y. Nishida, M. Nakamura, Y. Urata, K. Kasamo, H. Hiwatashi, I. Yokoyama, M. Mizobuchi, K. Sakurai, Y. Osaki, Y. Morita, M. Watanabe, K. Yoshida, K. Yamane, N. Miyakoshi, R. Okiyama, T. Ueda, N. Wakasugi, Y. Saitoh, T. Sakamoto, Y. Takahashi, K. Shibano, H. Tokuoka, A. Hara, K. Monma, K. Ogata, K. Kakuda, H. Mochizuki, T. Arai, M. Araki, T. Fujii, K. Tsukita, H. Sakamaki-Tsukita, and A. Sano Open Access e334 HTT haplogroups in Finnish patients with Huntington disease S. Ylonen,¨ J.O.T. Sipil¨a, M. Hietala, and K. Majamaa Open Access e335 Oligogenic basis of sporadic ALS: The example of SOD1 p.Ala90Val mutation L. Kuuluvainen, K. Kaivola, S. Monk¨ ¨are, H. Laaksovirta, M. Jokela, B. Udd, M. Valori, P. Pasanen, A. Paetau, B.J. Traynor, D.J. Stone, J. Schleutker, M. Poyh¨ onen,P.J.Tienari,and¨ L. Myllykangas Open Access e336 Hybrid gel electrophoresis using skin fibroblasts to aid in diagnosing mitochondrial disease C. Newell, A. Khan, D. Sinasac, J. Shoffner, M.W. Friederich, Editorial J.L.K. Van Hove, S. Hume, J. Shearer, and I. Sosova Open Access e326 HACE1, RAC1, and what else in the pathogenesis of SPPRS? e337 Novel mutation in TNPO3 causes congenital H.-X. Deng limb-girdle myopathy with slow progression Open Access Companion article, e330 A. Vihola, J. Palmio, O. Danielsson, S. Penttil¨a, D. Louiselle, S. Pittman, C. Weihl, and B. Udd Articles Open Access fi e330 HACE1 de ciency leads to structural and functional e338 DMPK gene DNA methylation levels are neurodevelopmental defects associated with muscular and respiratory profiles V. Nagy, R. Hollstein, T.-P. Pai, M.K. Herde, P. Buphamalai, in DM1 P. Moeseneder, E. Lenartowicz, A. Kavirayani, G.C. Korenke, ´ ´ I. Kozieradzki, R. Nitsch, A. Cicvaric, F.J. Monje Quiroga, C. Legare, G. Overend, S.-P. Guay, D.G. Monckton, J. Mathieu, M.A. Deardorff, E.C. Bedoukian, Y. Li, G. Yigit, J. Menche, E.F. Perçin, C. Gagnon, and L. Bouchard B. Wollnik, C. Henneberger, F.J. Kaiser, and J.M. Penninger Open Access Open Access Editorial, e326 e328 Novel pathogenic XK mutations in McLeod syndrome Clinical/Scientific Notes and interaction between XK protein and chorein e302 A novel cathepsin D mutation in 2 siblings with late Y. Urata, M. Nakamura, N. Sasaki, N. Shiokawa, Y. Nishida, K. Arai, H. Hiwatashi, I. Yokoyama, S. Narumi, Y. Terayama, T. Murakami, infantile neuronal ceroid lipofuscinosis Y. Ugawa, H. Sakamoto, S. Kaneko, Y. Nakazawa, R. Yamasaki, J. Thottath, S.K. Vellarikkal, R. Jayarajan, A. Verma, M. Manamel, S. Sadashima, T. Sakai, H. Arai, and A. Sano A. Singh, V.R. Rajendran, S. Sivasubbu, and V. Scaria Open Access Open Access TABLE OF CONTENTS Volume 5, Number 3, June 2019 Neurology.org/NG e327 X-linked myotubular myopathy and recurrent spontaneous pneumothorax: A new phenotype? P.-O. Carstens, E.M.C. Schwaibold, K. Schregel, C.D. Obermaier, A. Wrede, S. Zechel, S. Pauli, and J. Schmidt Open Access e329 First TMEM126A missense mutation in an Italian proband with optic atrophy and deafness C. La Morgia, L. Caporali, F. Tagliavini, F. Palombo, M. Carbonelli, R. Liguori, P. Barboni, and V. Carelli Open Access Cover image Neuropathologic findings of the autopsied patient. Plastic-embedded e333 Double somatic mosaicism in a child with Dravet sections from the dorsal spinal root show normal density of axons. syndrome See e335 A.M. Muir, C. King, A.L. Schneider, A.S. Buttar, I.E. Scheffer, L.G. Sadleir, and H.C. Mefford Open Access Academy Officers Neurology® is a registered trademark of the American Academy of Neurology (registration valid in the United States). James C. Stevens, MD, FAAN, President Neurology® Genetics (eISSN 2376-7839) is an open access journal published Orly Avitzur, MD, MBA, FAAN, President Elect online for the American Academy of Neurology, 201 Chicago Avenue, Ann H. 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