Results 121 to 130 of about 220,670 (147)

Functional Characterization and Pathogenicity Classification of PRRT2 Splice Variants in PRRT2‐Related Disorders

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Paroxysmal kinesigenic dyskinesia (PKD) is the most common hereditary paroxysmal movement disorder. The PRRT2 gene is the first identified causative gene and accounts for the majority of PKD. In this study, we investigated the pathogenicity of PRRT2 variants in the splice regions. Methods Patients with clinically suspected PKD and no
Jiao‐Jiao Xu, Yu‐Lan Chen, Wan‐Bing Sun, Hong‐Fu Li, Zhi‐Ying Wu, Dian‐Fu Chen   +5 more
wiley   +1 more source

Uncovering seed vigor responsive miRNA in hybrid wheat and its parents by deep sequencing. [PDF]

BMC Genomics
Yue JR, Liu YJ, Yuan SH, Sun H, Lou HY, Li YM, Guo HY, Liu ZH, Zhang FT, Zhai N, Zhang SQ, Bai JF, Zhang LP.   +12 more
europepmc   +1 more source

Quantity and Volume of Perivascular Spaces Are Inversely Associated With Multiple Sclerosis Relative to Cerebrovascular Disease and Migraine

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To quantify the number and volume of whole brain perivascular spaces (PVS) using a detection and segmentation algorithm in participants with multiple sclerosis (MS) and patients with disorders mimicking MS known to potentially influence PVS, such as cerebrovascular disease.
Elle M. Levit, Elizabeth A. Horwath, Daniel L. Schwartz, Lisa C. Silbert, Russell T. Shinohara, Andrew J. Solomon   +5 more
wiley   +1 more source

High Frequency of Artemisinin Partial Resistance Mutations in the Great Lakes Region Revealed Through Rapid Pooled Deep Sequencing. [PDF]

J Infect Dis
Wernsman Young N, Gashema P, Giesbrecht D, Munyaneza T, Maisha F, Mwebembezi F, Budodo R, Leonetti A, Crudale R, Iradukunda V, Jean Bosco N, Kirby RI, Boyce RM, Mandara CI, Kanyankole GK, Ntaro M, Okell LC, Watson OJ, Mulogo E, Ishengoma DS, Hangi S, Karema C, Mazarati JB, Juliano JJ, Bailey JA.   +24 more
europepmc   +1 more source

The Diverse Neuromuscular Spectrum of VPS13A Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective VPS13A disease (chorea‐acanthocytosis) is a rare neurodegenerative disorder caused by biallelic variants in VPS13A, typically presenting with hyperkinetic movement disorders, while neuromuscular signs are often mild. The aim of the project was to investigate the frequency and severity of neuromuscular impairment in VPS13A disease ...
Anne Buchberger, Evamaria Riedel, Marie Hackenberg, Alexander Mensch, Stefanie Beck‐Woedl, Joohyun Park, Tobias B. Haack, Bernhard Haslinger, Jan Kirschke, Holger Prokisch, Andreas Hermann, Christian Mawrin, Adrian Danek, Benedikt Schoser, Kevin Peikert, Marcus Deschauer, Isabell Cordts   +16 more
wiley   +1 more source

Deep Sequencing Analysis of Virome Components, Viral Gene Expression and Antiviral RNAi Responses in Myzus persicae Aphids. [PDF]

Int J Mol Sci
Sukhikh N, Golyaev V, Laboureau N, Clavijo G, Rustenholz C, Marmonier A, Chesnais Q, Ogliastro M, Drucker M, Brault V, Pooggin MM.   +10 more
europepmc   +1 more source

Lesion Location and Functional Connections Reveal Cognitive Impairment Networks in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Cognitive impairment, fatigue, and depression are common in multiple sclerosis (MS), potentially due to disruption of regional functional connectivity caused by white matter (WM) lesions. We explored whether WM lesions functionally connected to specific brain regions contribute to these MS‐related manifestations.
Alessandro Franceschini, Paolo Preziosa, Paola Valsasina, Damiano Mistri, Monica Margoni, Federica Esposito, Massimo Filippi, Maria A. Rocca   +7 more
wiley   +1 more source

Genotyping Plasmodium falciparum gametocytes using amplicon deep sequencing. [PDF]

Malar J
Vareta J, Horstman NA, Adams M, Seydel KB, McCann RS, Cohee LM, Laufer MK, Takala-Harrison S.   +7 more
europepmc   +1 more source

Purkinje Cell Loss in Essential Tremor: Collective Data From 215 Brains Over a 21‐Year Period

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Essential tremor is a highly prevalent movement disorder. Pathological changes observed in essential tremor cerebella center around Purkinje cells and neighboring neuronal populations. Postmortem studies have variably, but not always, shown reduced Purkinje cell counts in essential tremor compared to controls.
Chloë A. Kerridge, Roberto S. Hernandez, Nora C. Hernandez, Phyllis L. Faust, Elan D. Louis   +4 more
wiley   +1 more source

Radiological, Pathological, and Surgical Outcomes with Neoadjuvant Cemiplimab for Stage II-IV Cutaneous Squamous Cell Carcinoma in the Deep Sequencing in Cutaneous Squamous Cell Carcinomas (DISCERN) Trial. [PDF]

Cancers (Basel)
Lim AM, Baker B, Lion P, Angel CM, Simmons J, Jackson B, Magarey M, Webb A, Nguyen K, Hudson J, Chin KY, Cardin A, Ravi R, Morrison E, Quinn T, Hunt I, Rischin D.   +16 more
europepmc   +1 more source