Autosomal recessive spastic tetraplegia caused by AP4M1 and AP4B1 gene mutation: Expansion of the facial and neuroimaging features von Tüysüz, Beyhan, Bilguvar, Kaya, Koçer, Naci, Yalçınkaya, Cengiz, Çağlayan, Okay, Gül, Ece, Şahin, Sezgin, Çomu, Sinan, Günel, Murat

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NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy von Caglayan, Ahmet Okay, Comu, Sinan, Baranoski, Jacob F, Parman, Yesim, Kaymakçalan, Hande, Akgumus, Gozde Tugce, Caglar, Caner, Dolen, Duygu, Erson-Omay, Emine Zeynep, Harmanci, Akdes Serin, Mishra-Gorur, Ketu, Freeze, Hudson H, Yasuno, Katsuhito, Bilguvar, Kaya, Gunel, Murat

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Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery von Scott, Eric M, Halees, Anason, Itan, Yuval, Spencer, Emily G, He, Yupeng, Azab, Mostafa Abdellateef, Gabriel, Stacey B, Belkadi, Aziz, Boisson, Bertrand, Abel, Laurent, Clark, Andrew G, Alkuraya, Fowzan S, Casanova, Jean-Laurent, Gleeson, Joseph G

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An association analysis at 2q36 reveals a new candidate susceptibility gene for juvenile absence epilepsy and/or absence seizures associated with generalized tonic–clonic seizures... von Yalçin, Özlem, Baykan, Betül, Ağan, Kadriye, Yapici, Zuhal, Yalçin, Destina, Dizdarer, Gülşen, Türkdoğan, Dilşad, Özkara, Çiğdem, Ünalp, Aycan, Uludüz, Derya, Gül, Günay, Kuşcu, Demet, Ayta, Semih, Tutkavul, Kemal, Çomu, Sinan, Tatli, Burak, Meral, Cihan, Bebek, Nerses, Çağlayan, Server Hande

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Neurological manifestations of acute posterior multifocal placoid pigment epitheliopathy von COMU, S, VERSTRAETEN, T, RINKOFF, J. S, BUSIS, N. A

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RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders von Brancati, F, Travaglini, L, Zablocka, D, Boltshauser, E, Accorsi, P, Montagna, G, Silhavy, JL, Barrano, G, Bertini, E, Emma, F, Rigoli, L, Dallapiccola, B, Gleeson, JG, Valente, EM

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Siblings With Cystic Leukoencephalopathy and Megalencephaly von Yalçinkaya, Cengiz, Çomu, Sinan, Koçer, Naci, Yüksel, Adnan, Gündüz, Erem, Demirbilek, Veysi, Ocal, Ayla

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Etiologies of Seizures in Young Children Admitted to an Inner City Hospital in a Developing Country von Çetinkaya, Feyzullah, Sennaroglu, Ece, Comu, Sinan

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Epilepsy in vacuolating megalencephalic leukoencephalopathy with subcortical cysts von YALÇINKAYA, CENGIZ, YÜKSEL, ADNAN, ÇOMU, SINAN, KILIÇ, GÜLHATUN, ÇOKAR, ÖZLEM, DERVENT, AYŞIN

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Episodic ataxia and myokymia syndrome: A new mutation of potassium channel gene Kv1.1 von Çomu, Sinan, Narayanan, Vinodh, Giuliani, Michael

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Acquired hepatocerebral degeneration: MR and pathologic findings von Lee, J, Lacomis, D, Comu, S, Jacobsohn, J, Kanal, E

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An association analysis at 2q36 reveals a new candidate susceptibility gene for juvenile absence epilepsy and/or absence seizures associated with generalized tonic-clonic seizures:... von Yalçin, Özlem, Baykan, Betül, Ağan, Kadriye, Yapici, Zuhal, Yalçin, Destina, Dizdarer, Gülşen, Türkdoğan, Dilşad, Özkara, Çiğdem, Ünalp, Aycan, Uludüz, Derya, Gül, Günay, Kuşcu, Demet, Ayta, Semih, Tutkavul, Kemal, Çomu, Sinan, Tatli, Burak, Meral, Cihan, Bebek, Nerses, Çağlayan, Server Hande

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Raising a Child with a Neuromuscular Disorder: A Guide for Parents, Grandparents, Friends and Professionals von ÇOMU, SINAN

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