Results 141 to 150 of about 222,132 (339)

Homozygous Achondroplasia With Long‐Term Survival: Growth Patterns, Medical Interventions, and Practice Implications

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Homozygous achondroplasia is widely considered perinatal lethal by the medical community. In this case series, we report two children from a single family with longer‐term survival. One child lived for 17 months and the other was 60 months at the time of publication.
Hannah Singerline   +3 more
wiley   +1 more source

Neuropathic Pain and Enlarged Nerves in Adult Noonan Syndrome and Noonan Syndrome With Multiple Lentigines: Health‐Related Quality of Life and Neurologic Symptoms

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome (NS) and the clinically related Noonan syndrome with multiple lentigines (NSML) belong to the group of RASopathies. Although pain is not mentioned as a characteristic feature, it has recently been reported as a clinically significant problem.
Jos M. T. Draaisma   +12 more
wiley   +1 more source

James Lind Alliance Priority Setting Partnership for Degenerative Cervical Myelopathy [AO Spine RECODE-DCM]: An Overview of the Methodology Used to Process and Short-List Research Uncertainties [PDF]

open access: gold, 2022
Lindsay Tetreault   +15 more
openalex   +1 more source

STING deficiency promotes motor recovery in mice following brachial plexus root avulsion

open access: yesAnimal Models and Experimental Medicine, EarlyView.
STING deficiency can increase the body weight, promote motor recovery, decrease MN death, inhibit pyroptosis and neuroinflammation, increase remyelination, and reduce the atrophy of the biceps brachii in mice with BPRA. Abstract Background Brachial plexus root avulsion (BPRA), a well‐known form of peripheral nerve injury, results in motor function loss
Yu Peng   +4 more
wiley   +1 more source

TARDBP (TDP‐43) Knock‐in Zebrafish Display a Late‐Onset Motor Phenotype and Loss of Large Spinal Cord Motor Neurons

open access: yesAnnals of Neurology, EarlyView.
Objective Mutations in TARDBP (encoding TDP‐43) are associated with the neurodegenerative disease amyotrophic lateral sclerosis (ALS) and include familial missense mutations where there are a lack of models and mechanisms examining how they are pathogenic.
Ziyaan A. Harji   +10 more
wiley   +1 more source

Spinal canal stenosis-combined operation on the cervical and lumbar parts of the spine.

open access: diamond, 1986
Takuo Iijima   +5 more
openalex   +2 more sources

From Diagnosis to Disease Staging: Multisite Validation of Cerebrospinal Fluid Molecular Tests in Multiple Sclerosis

open access: yesAnnals of Neurology, EarlyView.
Objective The growing demand for personalized treatment in multiple sclerosis (MS) highlights the need for more precise biomarkers that can outperform magnetic resonance imaging and clinical assessment in patient stratification. Advances in multiplex proteomic technologies suggest that cerebrospinal fluid (CSF) analysis at MS onset may not only improve
Laura Ghezzi   +10 more
wiley   +1 more source

Asymptomatic Atlantoaxial Subluxation in Rheumatoid Arthritis

open access: yesActa Medica Iranica, 2014
This cross-sectional study is conducted to determine the prevalence of asymptomatic cervical spine subluxation in rheumatoid arthritis patients by plain radiographs and its relation to demographic and clinical characteristics, disease activity measures ...
Mohammadali Nazarinia   +4 more
doaj  

Fiberoptic Laryngeal Microsurgery in Patients with Cervical Spine Disease

open access: hybrid, 2014
Jeon Yeob Jang   +3 more
openalex   +1 more source

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