Results 191 to 200 of about 698,910 (309)

SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas, Pablo Iruzubieta, Alberto Damborenea, Laura Pérez‐Fernández, Inmaculada Azorín, Juan Carlos Jiménez García, Ana Töpf, Pilar Martí, Lorena Fores‐Toribio, María Manterola, Rosana Blanco‐Mañez, Oihane Pikatza‐Menoio, Sonia Alonso‐Martín, Volker Straub, Aitziber L. Cortajarena, Adolfo López de Munain, David De Sancho, Lorea Blázquez, Juan J. Vilchez   +18 more
wiley   +1 more source

Motif caller for sequence reconstruction in motif-based DNA storage. [PDF]

Sci Rep
Agarwal P, Pinnamaneni N, Heinis T.
europepmc   +1 more source

Relapsing–Remitting Multiple Sclerosis Is Associated With a Dysbiotic Oral Microbiome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Multiple sclerosis (MS) is a chronic autoimmune disorder characterized by inflammation, demyelination, and neurological impairment. While the gut microbiota's role in MS is extensively studied, the association between the oral microbiota and MS remains underexplored, particularly in North American cohorts.
Sukirth M. Ganesan, Meeta Yadav, Sudeep Ghimire, Peter C. Lehman, Apurva J. Patel, Sydney Woods, Heena Olalde, Jemmie Hoang, Mishelle Paullus, Catherine Cherwin, Christine Gill, Tracey Cho, Ashutosh K. Mangalam   +12 more
wiley   +1 more source

De-Bruijn graph partitioning for scalable and accurate DNA storage processing. [PDF]

Bioinformatics
De Moor F, Boullé O, Lavenier D.
europepmc   +1 more source

Evaluating manta ray mucus as an alternative DNA source for population genetics study: underwater-sampling, dry-storage and PCR success

, 2015
Tom Kashiwagi, Elisabeth A. Maxwell, Andrea D. Marshall, Ana B. Christensen   +3 more
openalex   +1 more source

The storage principle of DNA information [PDF]

, 2018
Zhe Yin
openalex   +1 more source

CSF Levels of NPTX2 Are Associated With Less Brain Atrophy Over Time in Cognitively Unimpaired Individuals

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Neuronal pentraxin 2 (NPTX2) is a synaptic protein involved in synaptic plasticity and regulation of neuronal excitability. Lower baseline cerebrospinal fluid (CSF) NPTX2 levels have been shown to be associated with an earlier onset of mild cognitive impairment (MCI), a pre‐dementia syndrome, even after CSF Alzheimer's Disease (AD)
Juan P. Vazquez, Corinne Pettigrew, Yuxin Zhu, Claire Anderson, Guray Erus, Christos Davatzikos, Michael Miller, Abhay Moghekar, Sungtaek Oh, Chan‐Hyun Na, Marilyn Albert, Paul Worley, Anja Soldan   +12 more
wiley   +1 more source

Efficient trace reconstruction in DNA storage systems using bidirectional beam search. [PDF]

iScience
Gu Z, Xin H, Sharma P, Goh GY, Wong L, Nagarajan N.   +5 more
europepmc   +1 more source

Correction to: DeSP: a systematic DNA storage error simulation pipeline. [PDF]

BMC Bioinformatics, 2022
Yuan L, Xie Z, Wang Y, Wang X.
europepmc   +1 more source

Directed assembly of single-stranded DNA fragments for data storage via protein-free catalytic splint ligation [PDF]

Gemma Mendonsa, Sriram Chari, Mengdi Bao, Brett Herdendorf, Anil Reddy   +4 more
openalex   +1 more source