Results 61 to 70 of about 51,218 (228)

Rapid generation of prion disease models using AAV‐delivered PrP variants in knockout mice

open access: yesBrain Pathology, EarlyView.
We developed a rapid AAV‐based system to generate prion disease models in weeks rather than months. Following systemic AAV9P31 delivery of modified PrP to knockout mice, we achieved brain‐wide expression and successful propagation of both classical (RML) and atypical (GSS‐A117V) prion strains.
Maitena San‐Juan‐Ansoleaga   +11 more
wiley   +1 more source

Paraspinal Abscess Secondary to Tuberculous Spondylitis Diagnosed by Xpert MTB/RIF Assay in Rural Tanzania. [PDF]

open access: yes, 2013
A 31-year-old HIV-negative man presented to our clinic with a 6-month history of back pain and a swelling at the back. Radiological studies revealed lumbar vertebral destruction.
Hella, Jerry Joseph   +3 more
core   +1 more source

The L108I polymorphism in mouse prion protein drives spontaneous disease and enhances transmission of atypical and classical prion strains

open access: yesBrain Pathology, EarlyView.
A single amino acid change (L108I) combined with PrP overexpression drives spontaneous atypical prion formation in mice, enabling also efficient propagation of diverse prion strains. This model allows studying how spontaneous prion diseases arise and provides powerful tools for investigating strain emergence, transmission barriers, and mechanisms ...
Hasier Eraña   +20 more
wiley   +1 more source

The Diagnostic Odyssey of a Biochemically Confirmed Case of ML II: The First Western Patient With LYSET Deficiency

open access: yesClinical Genetics, EarlyView.
We identify a female patient with a homozygous nonsense variant (p.Gln38Ter) in the LYSET gene. This is the first western report of a challenging case of an extensive diagnostic odyssey and demonstrates that the LYSET gene must be considered in the differential diagnosis when M6P‐labeled lysosomal enzymes are altered.
Fernanda Sperb‐Ludwig   +5 more
wiley   +1 more source

Ossified Ligamentum Longitudinale Anterius in Adult Human Dry Vertebrae [PDF]

open access: yesJournal of Clinical and Diagnostic Research, 2014
Background: The ligamentum longitudinale anterius is a broad and strong band of fibrous tissue that runs along the anterior surfaces of the bodies of the vertebrae.
Kalyan Chakravarthi Kosuri   +2 more
doaj   +1 more source

Clinical and biochemical response to neridronate treatment in a patient with osteoporosis-pseudoglioma syndrome (OPPG) [PDF]

open access: yes, 2017
Osteoporosis-pseudoglioma syndrome (OPPG) is a rare autosomal recessive syndrome characterized by juvenile-onset osteoporosis and ocular abnormalities due to a low-density lipoprotein receptor-related protein 5 (LRP5) gene mutation.
Celli, L   +7 more
core   +1 more source

Hypogravity reduces trunk admittance and lumbar muscle activation in response to external perturbations [PDF]

open access: yes, 2020
Reduced paraspinal muscle size and flattening of spinal curvatures have been documented after spaceflight. Assessment of trunk adaptations to hypogravity can contribute to develop specific countermeasures.
Caplan, Nick   +13 more
core   +4 more sources

Sagittal curve and high metal density in adolescent idiopathic scoliosis

open access: yesColuna/Columna, 2014
Objectives: To analyze radiographically the postoperative kyphosis from patients undergoing surgical treatment for AIS with pedicle screws in all vertebrae included in the arthrodesis. Methods: Retrospective study.
Fabio Araújo Fernandes   +6 more
doaj   +1 more source

ISSLS PRIZE IN BIOENGINEERING SCIENCE 2019: biomechanical changes in dynamic sagittal balance and lower limb compensatory strategies following realignment surgery in adult spinal deformity patients. [PDF]

open access: yes, 2019
Study designA longitudinal cohort study.ObjectiveTo define a set of objective biomechanical metrics that are representative of adult spinal deformity (ASD) post-surgical outcomes and that may forecast post-surgical mechanical complications.
Bailey, Jeannie F   +8 more
core  

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