Results 271 to 280 of about 1,799,072 (348)

Heterozygous variants in AP4S1 are not associated with a neurological phenotype

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Biallelic loss‐of‐function variants in AP4S1 cause childhood‐onset hereditary spastic paraplegia. A recent report suggested that heterozygous AP4S1 variants lead to a syndrome of lower limb spasticity and dysregulation of sphincter function. We critically evaluate this claim against clinical observations in 28 heterozygous carriers of the same
Vicente Quiroz, Umar Zubair, Luca Schierbaum, Amy Tam, Nicole Battaglia, Joshua Rong, Habibah A. P. Agianda, Julian E. Alecu, Kathryn Yang, Darius Ebrahimi‐Fakhari   +9 more
wiley   +1 more source

Genome sequence of a Tetraparvovirus ungulate 1 strain from a cow in Tennessee, USA. [PDF]

Microbiol Resour Announc
Elsakhawy OK, Roozitalab A, Abouelkhair MA.   +2 more
europepmc   +1 more source

Spontaneous deletions and duplications of sequences in the genome of cowpox virus.

, 1984
David J. Pickup, Barbara Ink, Barbara L. Parsons, Wei Hu, Wolfgang K. Joklik   +4 more
openalex   +1 more source

Skin calcium deposits in primary familial brain calcification: A novel potential biomarker

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Objective Primary Familial Brain Calcification (PFBC) is a rare neurodegenerative disorder characterized by small vessel calcifications in the basal ganglia. PFBC is caused by pathogenic variants in different genes and its physiopathology is still largely unknown. Skin vascular calcifications have been detected in single PFBC cases, suggesting
Aron Emmi, Giulia Bonato, Aleksandar Tushevski, Cinzia Bertolin, Francesco Cavallieri, Andrea Porzionato, Angelo Antonini, Leonardo Salviati, Miryam Carecchio   +8 more
wiley   +1 more source

The complete chloroplast genome sequence of Melothria scabra (Cucurbitaceae). [PDF]

Mitochondrial DNA B Resour
Deng C, Jia X, Chen S, Guo J, Zeng C, Chen Y, Zhu Q, Huang Y.   +7 more
europepmc   +1 more source

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

Description of the genome sequence of <i>Corynebacterium</i> species (Marseille-Q4381). [PDF]

Microbiol Resour Announc
Boxberger M, Rivoire S, Le Targa L, Cenizo V, La Scola B.   +4 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

Complete genome sequence of Roseburia faecis M72/1^T. [PDF]

Microbiol Resour Announc
Murotomi K, Tourlousse DM, Hamajima M, Sekiguchi Y.   +3 more
europepmc   +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