Results 61 to 70 of about 9,476 (139)

GRIN2B-related neurodevelopmental disorders: genotype-phenotype correlations and therapeutic implications. [PDF]

Orphanet J Rare Dis
Xie C, Kessi M, Liu F, He F, Peng J.
europepmc   +1 more source

The emerging role of gene therapy in autism spectrum disorder. [PDF]

Discov Ment Health
Shokoohi M, Ghamin K, Ghaderi M, Bamarinejad F, Homayouni Baker A, Danafar N, Zafarshamspour S.   +6 more
europepmc   +1 more source

Global developmental delay and focal seizures in individuals with de novo truncating MACF1 variants. [PDF]

Hum Genomics
Xi J, Deng F, Liang M, Ding Y, Li X, Gu Z, Lin Z, Liu Z, Li X.   +8 more
europepmc   +1 more source

The phosphoproteomic landscape of the neurological manifestations in tuberous sclerosis complex. [PDF]

Acta Neuropathol
Girodengo M, Mihaylov SR, Klonowska K, Mantoan Ritter L, Flynn HR, Skehel JM, Bou Farhat E, Aronica E, White M, Kwiatkowski DJ, Ultanir SK, Bateman JM.   +11 more
europepmc   +1 more source

Case Report: Integration between eye movement desensitization and reprocessing and cognitive therapy for autism spectrum disorder. Novel intervention protocol based on case formulation and brief review of literature. [PDF]

Front Psychol
Marino M, Pezone M, Riccio MP, Garotti R, Scapicchio A, Fernandez I, Bravaccio C.   +6 more
europepmc   +1 more source

Genetic Etiology of Developmental and Epileptic Encephalopathy in a Turkish Cohort: A Single-Center Study with Targeted Gene Panel and Whole Exome Sequencing. [PDF]

Genes (Basel)
Sunnetci-Akkoyunlu D, Kara B, Ozer T, Deniz A, Sakarya-Gunes A, Isik EB, Dogruoglu B, Ilkay Z, Yilmaz M, Sahin S, Eren-Keskin S, Cine N, Savli H.   +12 more
europepmc   +1 more source

KCC2 activation during postnatal development alleviates long-term deficits in CDKL5-deficient mice. [PDF]

Exp Mol Med
Arshad MN, Bope C, Cho N, Dengler JS, Ng SFJ, Smalley JL, Nishi T, Zhong Z, Moss SJ, Davies PA.   +9 more
europepmc   +1 more source

A novel <i>de novo ATP2B1</i> variant causes autosomal dominant intellectual developmental disorder 66 by disrupting calcium homeostasis via impaired membrane trafficking. [PDF]

Exp Biol Med (Maywood)
Zang H, Yang X, Liu Y, Ma C, Yang D.
europepmc   +1 more source

Comparison of the K-WPPSI-IV Profiles Between Children With Attention-Deficit/Hyperactivity Disorder and Children With Autism Spectrum Disorder: A Retrospective Study. [PDF]

Psychiatry Investig
Kim G, Ahn S, Park DH, Kim H, Kim S, Kim HW.   +5 more
europepmc   +1 more source