Results 221 to 230 of about 526,413 (332)

Diagnostic Utility of the ATG9A Ratio in AP‐4–Associated Hereditary Spastic Paraplegia

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adaptor protein complex 4–associated hereditary spastic paraplegia (AP‐4‐HSP), a childhood‐onset neurogenetic disorder and frequent mimic of cerebral palsy, is caused by biallelic variants in the adaptor protein complex 4 (AP‐4) subunit genes (AP4B1 [for SPG47], AP4M1 [for SPG50], AP4E1 [for SPG51], and AP4S1 [for SPG52]).
Habibah A. P. Agianda   +12 more
wiley   +1 more source

Programming virulent bacteriophages by developing a multiplex genome engineering method. [PDF]

open access: yesmBio
Zhang H   +8 more
europepmc   +1 more source

Value of MRI Outcomes for Preventive and Early‐Stage Trials in Spinocerebellar Ataxias 1 and 3

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To examine the value of MRI outcomes as endpoints for preventive and early‐stage trials of two polyglutamine spinocerebellar ataxias (SCAs). Methods A cohort of 100 participants (23 SCA1, 63 SCA3, median Scale for the Assessment and Rating of Ataxia (SARA) score = 5, 42% preataxic, and 14 gene‐negative controls) was scanned at 3T up ...
Thiago J. R. Rezende   +26 more
wiley   +1 more source

Mouse genome engineering uncovers 18 genes dispensable for male reproduction. [PDF]

open access: yesAndrology
Chang HY   +7 more
europepmc   +1 more source

659. Precision Genome Engineering in Human Induced Pluripotent Stem Cells Using CRISPR/CAS9 [PDF]

open access: hybrid, 2015
Jon P. Connelly   +5 more
openalex   +1 more source

TBK1‐Associated Primary Lateral Sclerosis Followed by Right Temporal Variant Frontotemporal Dementia

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We report a 58‐year‐old woman with a novel splice‐site variant in the TANK‐binding kinase 1 (TBK1:c.993–2A>C p.Ala332TyrfsTer39) who sequentially developed primary lateral sclerosis (PLS) followed by right temporal variant frontotemporal dementia (rtvFTD). Neuroimaging demonstrated right anterior temporal atrophy before cognitive symptoms, and
Tomoyasu Matsubara   +18 more
wiley   +1 more source

Make-or-break prime editing for genome engineering in Streptococcus pneumoniae. [PDF]

open access: yesNat Commun
Rengifo-Gonzalez M   +6 more
europepmc   +1 more source

Development of a CRISPR-Cas12a system for efficient genome engineering in clostridia. [PDF]

open access: yesMicrobiol Spectr, 2023
Zhang Y   +7 more
europepmc   +1 more source

Genome Engineering and Agriculture: Opportunities and Challenges

open access: green, 2017
Nicholas J. Baltes   +2 more
openalex   +2 more sources

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