Results 141 to 150 of about 2,568 (202)

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

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

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

Neurophysiological Insights into the Pathophysiology of Stiff-Person Spectrum Disorders. [PDF]

Mov Disord Clin Pract
Moura J, Rocchi L, Zandi M, Balint B, Bhatia KP, Latorre A.   +5 more
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

A study on the diagnostic value and classification of sirenomelia by prenatal ultrasonography. [PDF]

BMC Pregnancy Childbirth
Pan T, Lan Q, Li T, Wang Y, Qi P, Ran J, Jiang X, Ma B.   +7 more
europepmc   +1 more source

Structural basis for domain coupling in heteromeric glycine receptors revealed by an atypical allosteric agonist. [PDF]

Sci Adv
Gibbs E, Feddersen B, Kindig KJ, Seiferth D, Biggin PC, Chakrapani S.   +5 more
europepmc   +1 more source

Quality control at the powerhouse: mitochondrial proteostasis dysfunction and disease. [PDF]

Biochem Soc Trans
Baker MJ, Yek KQ, Stojanovski D.
europepmc   +1 more source

Neonatal Seizures in Low- and Middle-Income Countries: A Review of the Literature and Recommendations for the Management. [PDF]

Turk Arch Pediatr
Spenard S, Ivan Salazar Cerda C, Çizmeci MN.   +2 more
europepmc   +1 more source

Dysmorphic neurons express markers of inhibitory glycinergic signaling in focal cortical dysplasia IIb. [PDF]

Brain Pathol
Paliwal A, Faust K, Borhani OA, Liu M, Omoto L, Kamski-Hennekam ER, Zadeh PB, Sajid RS, Diamandis P.   +8 more
europepmc   +1 more source