Results 191 to 200 of about 221,453 (287)

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr   +7 more
wiley   +1 more source

Using Wearable Devices to Monitor Activity and Sleep in Inpatients With Parkinson Disease With and Without Delirium: Feasibility and Acceptability Study. [PDF]

open access: yesJ Med Internet Res
Bate GL   +10 more
europepmc   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen   +5 more
wiley   +1 more source

Arthrogryposis Multiplex Congenita in Pediatric Age: Correlation Between MUScular MRI and Functional Evaluation (AMUSE), Toward a Biomechanical Model

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) is a group of diseases with joint limitations at two or more distinct joint levels at birth. Joint limitations are not progressive, but the functional consequences have a lifelong impact on patients. The management of these conditions is therefore demanding, necessarily multidisciplinary, and is a long ...
Alicia‐Marine Milot   +10 more
wiley   +1 more source

Cognitive Dysfunction in Chronic Rhinosinusitis: A Scoping Review

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Cognitive dysfunction is increasingly recognized as an extra‐nasal manifestation of chronic rhinosinusitis (CRS). This scoping review characterizes the primary evidence on cognition in adult CRS, covering measures, treatment response, and incident dementia.
Luke M. O'Neil   +5 more
wiley   +1 more source

Neurophysiological Recovery Following Nerve Transfer Surgery to Restore Upper Limb Function after Cervical Spinal Cord Injury

open access: yesAnnals of Neurology, EarlyView.
Objectives Nerve transfer is a promising intervention for restoring hand and upper limb function after cervical spinal cord injury (SCI), but the timeline of neurophysiological recovery in humans remains unclear. This study aimed to define recovery profiles after nerve transfers to restore upper limb function.
Kyle J. Missen   +14 more
wiley   +1 more source

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