Results 141 to 150 of about 1,802 (202)

Novel pathogenic variant in a mild case of type B molybdenum cofactor deficiency: case report and literature review. [PDF]

BMC Med Genomics
Kinsinger M, Ivanisevic J, Mithal DS.
europepmc   +1 more source

Mechanisms of transport and analgesic compounds recognition by glycine transporter 2. [PDF]

Proc Natl Acad Sci U S A
Wang Y, Su J, Zhao J, Li R, Bai Q, Song H, Meng Y, Ma Q, Zhao Y.   +8 more
europepmc   +1 more source

Interictal focal epileptic discharges in a pediatric patient with absence status epilepsy: a mimicker of focal epilepsy. [PDF]

Epilepsy Behav Rep
Ohta K, Yoshino G, Togawa M, Okanishi T, Maegaki Y.   +4 more
europepmc   +1 more source

Competition between glycine and GABA_A receptors for gephyrin controls their equilibrium populations at inhibitory synapses. [PDF]

Proc Natl Acad Sci U S A
Kostrz D, Maynard SA, Camuso S, Schulte C, Laurent F, Masson JB, Maric HM, Gosse C, Triller A, Strick TR, Specht CG.   +10 more
europepmc   +1 more source

Histopathological Investigation of Progressive Encephalomyelitis with Rigidity and Myoclonus: An Autopsy Case Characterized by Oculomotor Dysfunction and Autonomic Failure. [PDF]

Intern Med
Yabata H, Nakamura R, Sugiyama S, Tamaki Y, Yamakawa I, Onoda S, Ishigaki H, Ikeda T, Akagi A, Itoh Y, Kushima R, Yoshida M, Iwasaki Y, Urushitani M.   +13 more
europepmc   +1 more source

Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes. [PDF]

Brain
Rinaldi B, Bayat A, Zachariassen LG, Sun JH, Ge YH, Zhao D, Bonde K, Madsen LH, Awad IAA, Bagiran D, Sbeih A, Shah SM, El-Sayed S, Lyngby SM, Pedersen MG, Stenum-Berg C, Walker LC, Krey I, Delahaye-Duriez A, Emrick LT, Sully K, Murali CN, Burrage LC, Plaud Gonzalez JA, Parnes M, Friedman J, Isidor B, Lefranc J, Redon S, Heron D, Mignot C, Keren B, Fradin M, Dubourg C, Mercier S, Besnard T, Cogne B, Deb W, Rivier C, Milani D, Bedeschi MF, Di Napoli C, Grilli F, Marchisio P, Koudijs S, Veenma D, Argilli E, Lynch SA, Au PYB, Ayala Valenzuela FE, Brown C, Masser-Frye D, Jones M, Patron Romero L, Li WL, Thorpe E, Hecher L, Johannsen J, Denecke J, McNiven V, Szuto A, Wakeling E, Cruz V, Sency V, Wang H, Piard J, Kortüm F, Herget T, Bierhals T, Condell A, Ben-Zeev B, Kaur S, Christodoulou J, Piton A, Zweier C, Zweier C, Kraus C, Micalizzi A, Trivisano M, Specchio N, Lesca G, Møller RS, Tümer Z, Musgaard M, Gerard B, Lemke JR, Shi YS, Kristensen AS.   +87 more
europepmc   +1 more source

A Reappraisal on cortical myoclonus and brief Remarks on myoclonus of different Origins. [PDF]

Clin Neurophysiol Pract
Canafoglia L, Meletti S, Bisulli F, Alvisi L, Assenza G, d'Orsi G, Dubbioso R, Ferlazzo E, Ferri L, Franceschetti S, Gambardella A, Granvillano A, Licchetta L, Nucera B, Panzica F, Perulli M, Provini F, Rubboli G, Strigaro G, Suppa A, Tartara E, Cantalupo G.   +21 more
europepmc   +1 more source

Chloride Homeostasis in Neuronal Disorders: Bridging Measurement to Therapy. [PDF]

Life (Basel)
Arosio D, Musio C.
europepmc   +1 more source

CLPB deficiency-associated congenital neutropenia: A rare case report and literature review. [PDF]

Medicine (Baltimore)
Sun Y, Tang M, He J, Hu X, Li M, Tan L.
europepmc   +1 more source