Results 111 to 120 of about 100,891 (207)

Advances and applications of genome-edited animal models for severe combined immunodeficiency. [PDF]

Zool Res
Zheng X, Huang CH, Yan S, Rong MD.
europepmc   +1 more source

The Spectrum of Abnormal Tongue Movements: Review of Phenomenology, Etiology, and Differential Diagnosis

Movement Disorders Clinical Practice, EarlyView.
ABSTRACT Background Classifying abnormal tongue movements is challenging due to their varied presentations and limited visibility compared to other body parts. Accurate identification of the phenomenology guides physical examination and can point to specific diagnoses.
Nathaniel Bendahan, Seyed‐Mohammad Fereshtehnejad, Christos Ganos, Emily Swinkin, Anthony E. Lang   +4 more
wiley   +1 more source

Excretion and clearance of Sabin-like type 3 poliovirus in a child diagnosed with severe combined immunodeficiency. [PDF]

Hum Vaccin Immunother
Yao N, Liu Y, Zhang ZY, Tian M, Xie WJ, Zhao H, Yang H, Rodewald LE, Wen N, Yin ZD, Wang FZ, Wang Q, Xu JW.   +12 more
europepmc   +1 more source

The ClinGen Severe Combined Immunodeficiency Disease Variant Curation Expert Panel: Specifications for classification of variants in ADA, DCLRE1C, IL2RG, IL7R, JAK3, RAG1, and RAG2. [PDF]

Genet Med
Jacovas VC, Zelnick M, McNulty S, Ross JE, Khurana N, Pan X, Nieto A, Martin S, McLean B, Elnagheeb MA, Cowan MJ, Puck JM, Hershfield MS, Verbsky J, Walter J, Allenspach EJ, Chan AY, van Oers NSC, Ghosh R, Piazza M, Yuan B, Notarangelo LD, Johnson BA, Chinn IK, Severe Combined Immunodeficiency Variant Curation Expert Panel.   +24 more
europepmc   +1 more source

Co‐ and Multi‐Pathologies in Parkinson's Disease: An International Parkinson and Movement Disorder Society Scientific Issues Committee Review

Movement Disorders, EarlyView.
Abstract Parkinson's disease (PD) has been historically defined as a disease of striatal dopamine deficiency secondary to degeneration of dopaminergic neurons in the substantia nigra pars compacta, related to the presence of Lewy bodies and Lewy neurites.
Michele Matarazzo, Per Borghammer, Inas Elsayed, Jennifer G. Goldman, Yue Huang, Katja Lohmann, Per Svenningsson, Lorraine V. Kalia, Daniela Berg, Jeffrey H. Kordower, the MDS Scientific Issues Committee   +10 more
wiley   +1 more source

The Path to Screening US Newborns for Severe Combined Immunodeficiency, 1968-2018: A Narrative Review of a Successful Biomedical Research and Public Health Partnership.

Public Health Genomics
Grosse SD, Vogt RF, Yazdanpanah GK, Chan K, Gaffney M, Comeau AM.   +5 more
europepmc   +1 more source

Hemizygous <i>IL2RG</i> Variants Impair IL-2-Induced STAT5 Phosphorylation and Transcriptional Activity Causing X-Linked Severe Combined Immunodeficiency. [PDF]

Appl Clin Genet
Zhang N, Sang YL, Zhu W, Wang YR, Yu YY, Chen YH, Du J, He WB, Tan YQ, Wang FY.   +9 more
europepmc   +1 more source

Early Remission of Cerebrospinal Fluid Interleukin‐6 After Initial Immunotherapy Predicts a Good Prognosis in Autoimmune Encephalitis

Neurology and Clinical Neuroscience, EarlyView.
ABSTRACT Background Autoimmune encephalitis therapy requires adjusting the regimen based on therapeutic response; however, clinical indicators of this response remain unknown. Aim To determine the predictive capability of cerebrospinal fluid (CSF), electroencephalography (EEG), and brain magnetic resonance imaging (MRI) in identifying responders to ...
Yuta Madokoro, Yuto Uchida, Hiroyasu Inoue, Toyohiro Sato, Teppei Fujioka, Masayuki Mizuno, Shoji Kawashima, Masahiro Oomura, Noriyuki Matsukawa   +8 more
wiley   +1 more source

Preimplantation genetic testing for four families with severe combined immunodeficiency: Three unaffected livebirths. [PDF]

Orphanet J Rare Dis
Zhang L, Feng L, Shi H, Niu W, Wang Y, Bu B, Liu Y, Bao X, Song W, Jin H, Sun Y.   +10 more
europepmc   +1 more source

Prime editing in neuropsychiatric disorders: From mutation‐specific target selection to clinical translation

Neuroprotection, EarlyView.
Abstract Prime editing, a novel clustered regularly interspaced short palindromic repeats (CRISPR)‐based technology, fuses a reverse transcriptase (RT) to an engineered CRISPR‐associated protein 9 (Cas9) and uses a prime editing guide RNA (pegRNA)‐encoded template.
Tianshan Ji, Yuan Zhang, Jinyi Zhao, Yiping Lu, Chengkun Wang   +4 more
wiley   +1 more source