Results 171 to 180 of about 562,551 (304)

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

Delayed Speech and Developmental Aphasia [PDF]

BMJ, 1955
M, MORLEY, D, COURT, H, MILLER, R F, GARSIDE   +3 more
openaire   +2 more sources

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Differential negative dominance by KCNA2 variants associated with global developmental delay suggests KCNA2 haploinsufficiency in humans. [PDF]

J Physiol
Boon PX, Jauregi-Miguel A, Yasarbas SS, Pozzi S, Karlsson U, Husami A, Ko C, Shillington A, Pantazis A.   +8 more
europepmc   +1 more source

A Systematic Comparison of Alpha‐Synuclein Seed Amplification Assays for Increasing Reproducibility

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Seed amplification assays (SAAs) enable ultrasensitive detection of misfolded α‐synuclein across biofluids and tissues. Yet, heterogeneity in protocols limits cross‐study comparability and clinical translation. Here, we review α‐synuclein SAA methods and their performance across various biological matrices.
Manuela Amaral‐do‐Nascimento, Daniela F. Santos, Tuane C. R. G. Vieira, Tiago F. Outeiro   +3 more
wiley   +1 more source

Microcephaly, seizures and developmental delay caused by two novel mutations in the <i>PNKP</i> gene: a case report. [PDF]

Transl Pediatr
Liu M, Huang DP, Wang ML, Zhao DJ, Feng J, Zhu FM, Zhang ZL, Chen XQ.   +7 more
europepmc   +1 more source

Advancing Age Modulates Associations Between Cognitive Impairment and Brain Volumes in Early MS

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Cognitive impairment is common in multiple sclerosis (MS), but manifestations following the first demyelinating event are relatively unexplored. We investigated cross‐sectional associations between magnetic resonance imaging (MRI)–derived brain volumes and the presence of cognitive impairment outcomes five years after the first ...
Piriyankan Ananthavarathan, Marco Pitteri, Michael Foster, Sara Collorone, Sara Salama, Elisa Colato, Ferran Prados, Baris Kanber, Marios Yiannakas, Claudia A. M. Gandini Wheeler‐Kingshott, Indran Davagnanam, Frederik Barkhof, Declan Chard, Olga Ciccarelli, Ahmed Toosy   +14 more
wiley   +1 more source

Clinical use of whole-genome sequencing in children with developmental delay or intellectual disability. [PDF]

BMC Med Genomics
Xu J, Xu Y, Su W, Chen L, Wang Y, Li H.
europepmc   +1 more source

Prognostic Value of Neurofilament Light Chain and Glial Fibrillary Acidic Protein in ALD‐Related Myelopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background X‐linked adrenoleukodystrophy (X‐ALD) is a neurometabolic disorder caused by pathogenic variants in ABCD1, leading to slowly progressive spinal cord disease in nearly all affected men. Sensitive biomarkers to quantify disease severity and predict progression are needed for clinical care and trial design.
Eda G. Kabak, Marije M. C. Voermans, Hans Heijst, Charlotte E. Teunissen, Marc Engelen   +4 more
wiley   +1 more source

Episodic Ataxia Associated With Synaptosomal-Associated Protein 25 (SNAP25) Variant: Beyond Epilepsy and Developmental Delay. [PDF]

Cureus
Fernandes IF, Figueiredo AC, Parente Freixo J, Dupont J, Carvalho J.   +4 more
europepmc   +1 more source