Results 131 to 140 of about 190,027 (315)
THE PATHOLOGY OF TABETIC OCULAR PALSY WITH REMARKS ON THE RELATION OF SYPHILIS TO THE SO-CALLED PARASYPHILITIC DISEASES [PDF]
, 1915 WILLIAM G. SPILLER
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cystic kidney diseases (CyKD) are a diverse group of disorders affecting more than 1 in 1000 individuals. Over 120 genes are implicated, primarily encoding components of the primary cilium, transcription factors, and morphogens. Prognosis varies greatly by molecular diagnosis. Causal variants are not identified in 10%–60% of individuals due to
Deborah Watson +10 more
wiley +1 more source
Capecitabine-Related Fourth Nerve Palsy: A Case Report
Case Reports in OncologyIntroduction: Capecitabine has rarely been associated with neurotoxicity. Cerebellar ataxia, multifocal leukoencephalopathy, and sensorimotor peripheral neuropathy have been reported in the literature.
Marco Rocco Pastore +3 more
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The Case for Musical Instrument Training in Cerebral Palsy for Neurorehabilitation
Neural Plasticity, 2016 Recent imaging studies in cerebral palsy (CP) have described several brain structural changes, functional alterations, and neuroplastic processes that take place after brain injury during early development.
Ana Alves-Pinto +3 more
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A CONTRIBUTION TO THE PATHOLOGY OF THE SPINAL CORD IN DIVER??S PALSY [PDF]
, 1894 CASPAR W. SHARPLES
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Detecting the Difficult: An Intronic NPC1 Variant Hiding in Plain Sight
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT An illustration of the importance of manual data review for identifying rare intronic variants adjacent to homopolymers is presented here. A 14‐year‐old male with Niemann‐Pick Type C disease confirmed biochemically was only found to have a heterozygous pathogenic variant by molecular analysis. A manual review of the Next Generation Sequencing (
Caroline Gully Brown +6 more
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Sixth-Nerve Palsy after Lumbar Puncture and Spinal Analgesia [PDF]
, 1953 A. A.
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Children With 22.Q.11.2 Deletion Syndrome: Sleep‐Disordered Breathing and Management
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Patients with 22q11.2 deletion syndrome (22q11DS) are predisposed to obstructive sleep apnea (OSA) due to an abnormal craniofacial anatomy with pharyngeal hypotonia, retrognathia, micrognathia, and glossoptosis. The aim of the study was to describe the prevalence and management of OSA in a cohort of children with 22q11DS.
Domenico Paolo La Regina +6 more
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Epilepsia Open, EarlyView., 2022 Abstract Epilepsy syndromes during the early years of life may be attributed to an acquired insult, such as hypoxic–ischemic injury, infection, status epilepticus, or brain trauma. These conditions are frequently modeled in experimental rodents to delineate mechanisms of epileptogenesis and investigate novel therapeutic strategies.
Anna‐Maria Katsarou +7 more
wiley +1 more source