Results 271 to 280 of about 363,529 (321)

Targeted Long‐Read Sequencing as a Single Assay Improves the Diagnosis of Spastic‐Ataxia Disorders

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The hereditary spastic‐ataxia spectrum disorders are a group of disabling neurological diseases. The traditional genetic testing pathway is complex, multistep and leaves many cases unsolved. We aim to streamline and improve this process using long‐read sequencing. Methods We developed a targeted long‐read sequencing strategy with the
Laura Ivete Rudaks, Igor Stevanovski, Dennis Yeow, Andre L. M. Reis, Sanjog R. Chintalaphani, Pak Leng Cheong, Hasindu Gamaarachchi, Lisa Worgan, Kate Ahmad, Michael Hayes, Andrew Hannaford, Samuel Kim, Victor S. C. Fung, Gabor M. Halmagyi, Andrew Martin, David Manser, Michel Tchan, Karl Ng, Marina L. Kennerson, Ira W. Deveson, Kishore Raj Kumar   +20 more
wiley   +1 more source

Somatic Hybrid Cell Formation by Viral Genome-Free Envelopes Reassembled from Solubilized HVJ (Sendai Virus)

, 1975
Yoshio Okada, Yasuhiro Hosaka, Kazufumi Shimizu, Katsuaki Matsui   +3 more
openalex   +2 more sources

Milk somatic cell DNA isolation and characterization of κ-casein gene in Halari donkey milk. [PDF]

Heliyon
Singh P, Bhardwaj A, Nayan V, Legha RA, Pal Y, Soni S, Giri SK, Bhattacharya TK.   +7 more
europepmc   +1 more source

Progressive Myoclonus Epilepsy: Distinctive MRI Changes in Cerebellar and Motor Networks

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Progressive myoclonus epilepsy (PME) is a rare generalized epilepsy syndrome with a well‐characterized genetic basis. The brain networks that are affected to give rise to the distinctive symptoms of PME are less well understood. Methods Eleven individuals with PME with a confirmed genetic diagnosis and 22 controls were studied.
Jillian M. Cameron, Remika Mito, Samuel F. Berkovic, Graeme D. Jackson   +3 more
wiley   +1 more source

Shootin1 Regulates Retinal Ganglion Cell Neurite Development: Insights From an RGC Direct Somatic Cell Reprogramming Model. [PDF]

Invest Ophthalmol Vis Sci
Zhang K, Zhang T, He Q, Liang H, Guo J, Zeng M, Chen S.   +6 more
europepmc   +1 more source

High‐Throughput Immunoassays for Cavin‐4 IgG: A Diagnostic Tool for Immune‐Mediated Rippling Muscle Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACTCavin‐4 was identified as a potential autoantigen for immune‐mediated rippling muscle disease (iRMD). To validate this, we developed and tested various immunoassays, including a cell‐based assay (CBA), cavin‐4 recombinant protein ELISA, and multi‐peptide ELISA. Among 19 iRMD patients, all exhibited muscle rippling, and 13 had percussion‐induced
Reghann G. LaFrance‐Corey, Haidara Kherbek, Nimalan Harinesan, Margherita Milone, Naveen K. Paramasivan, Pallab Sarker, Andrew M. Knight, Carley Karsten, Surendra Dasari, Teerin Liewluck, William J. Litchy, Sean J. Pittock, John R. Mills, Divyanshu Dubey   +13 more
wiley   +1 more source

Novel Phenotypes and Deep Intronic Variant Expand TH‐Associated Dopa‐Responsive Dystonia Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Approximately 20% of dopa‐responsive dystonia (DRD) cases remain genetically unresolved. Using whole‐genome sequencing, we identified two TH variants in a young DRD patient, including a novel deep intronic variant. Minigene assays confirmed that this variant causes aberrant splicing.
Xiaosheng Zheng, Chenxin Ying, Nan Jin, Jinghong Ma, Xinhua Wan, Xunhua Li, Wei Luo   +6 more
wiley   +1 more source

Single-cell transcriptome landscape of developing fetal gonads defines somatic cell lineage specification in humans

, 2023
Lardenois A, Suglia A, Moore C, Evrard B, Noël L, Rivaud P, Besson A, Toupin M, Léonard S, Lesné L, Coiffec I, Nef S, Lavoué V, Collin O, Chédotal A, Mazaud-Guittot S, Chalmel F, Rolland A.   +17 more
europepmc   +1 more source

Unleashing the Power of Multiomics: Unraveling the Molecular Landscape of Peripheral Neuropathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Peripheral neuropathies (PNs) affect over 20 million individuals in the United States, manifesting as a wide range of sensory, motor, and autonomic nerve symptoms. While various conditions such as diabetes, metabolic disorders, trauma, autoimmune disease, and chemotherapy‐induced neurotoxicity have been linked to PN, approximately one‐third of
Julie Choi, Zitian Tang, Wendy Dong, Jenna Ulibarri, Elvisa Mehinovic, Simone Thomas, Ahmet Höke, Sheng Chih Jin   +7 more
wiley   +1 more source