Results 111 to 120 of about 2,568 (202)

Hyperekplexia, microcephaly and simplified gyral pattern caused by novel mutations, case report [PDF]

core   +1 more source

Familial Hyperekplexia Caused by a Novel Homozygous <i>SLC6A5</i> Variant: A Case Report. [PDF]

Mol Syndromol
Yılmaz FH, Kahraman AB, Duymuş F, Koçak Eker H, Çelik H, Büyükeren M, Özcan B, Keçeci R.   +7 more
europepmc   +1 more source

A New GlyT2 Variant Associated with Hyperekplexia. [PDF]

Int J Mol Sci
Sarmiento-Jiménez J, Felipe R, Núñez E, Ferrando-Muñoz A, Benito-Muñoz C, Gago F, Vázquez J, Camafeita E, Clement E, Wilson B, López-Corcuera B.   +10 more
europepmc   +1 more source

A dual manifestation of GAD-antibody spectrum disorder: a case of progressive encephalomyelitis with rigidity, myoclonus and autoimmune epilepsy with mesial temporal sclerosis. [PDF]

BMC Neurol
Luque-Llano M, Coronel MA, Sanguino-Caneva C, Gallo-Urina S, Bermudez V, Rivera-Porras D, Vargas-Manotas J.   +6 more
europepmc   +1 more source

Erratum: Characterization of the Zebrafish Glycine Receptor Family Reveals Insights Into Glycine Receptor Structure Function and Stoichiometry

Frontiers in Molecular Neuroscience, 2018
Frontiers Production Office
doaj   +1 more source

STARDEV Study: Neurodevelopmental Trajectory and Long-Term Outcomes of Patients with Startle Disease/Hyperekplexia. [PDF]

Mov Disord Clin Pract
Pina D, Roubertie A, Spitz MA, Ravelli C, Bahi-Buisson N, Gheurbi F, Buchy M, Loppinet T, Chemaly-Perin N, Nougues MC, Heron B, Lopez R, Anheim M, Fradin M, Cances C, Avez-Couturier J, Dalmon F, Lesca G, Des Portes V, Lion-François L.   +19 more
europepmc   +1 more source

Role of the Glycine Transporter GlyT2 in the Neuronal Differentiation of PC12 Cells. [PDF]

Int J Mol Sci
Sarmiento-Jiménez J, Morales-González B, Núñez E, Martínez-Blanco E, Zafra F, Díez-Guerra FJ, López-Corcuera B.   +6 more
europepmc   +1 more source

Startle Disease: An Overlooked Symptom of CTNNB1-Related Neurodevelopmental Disorder With Spastic Diplegia and Visual Defects. [PDF]

Neurol Genet, 2022
Bulot V, Ramond F, Mauguière F, Mazzola L.   +3 more
europepmc   +1 more source

Rafiq Syndrome: Old Variant in MAN1B1 Gene and Some New Phenotypic Features. [PDF]

Iran J Child Neurol
Özgün N, Saka Güvenç M.
europepmc   +1 more source

Sporadic hyperekplexia [PDF]

, 2020
openaire   +1 more source