Results 131 to 140 of about 233,409 (358)
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT The National Institute of Health (NIH) Undiagnosed Diseases Program (UDP) is an NIH project with the goal of providing both a comprehensive diagnosis and a better understanding of the many mechanisms of disease for patients with rare and undiagnosed conditions.
Dee Adedipe +19 more
wiley +1 more source
Respiratory failure and sleep in neuromuscular disease. [PDF]
, 1990 P.T. Bye +4 more
openalex +1 more source
Research advances in dysphagia animal models
Animal Models and Experimental Medicine, EarlyView.This review systematically summarizes the establishment, evaluation, and detection of dysphagia animal models in stroke, Parkinson's disease (PD), and amyotrophic lateral sclerosis (ALS) in three kinds of experimental animals (including rodents, nonhuman primates, and other mammals), providing a basis for the selection of appropriate animal models of ...
Junhui Bai +5 more
wiley +1 more source
Physical rehabilitation for critical illness myopathy and neuropathy (Protocol)
, 2014 Protocol for a review - no ...
Burridge, Jane +4 more
core
Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies
Annals of Neurology, EarlyView.Autosomal recessive cerebellar ataxias are disabling neurodegenerative genetic conditions affecting balance and coordination. Advancements in genomic testing have improved diagnosis, leading to a new focus on the development of targeted precision therapeutics addressing cellular, biochemical, and genetic disease mechanisms with a resulting emphasis on ...
Brent L. Fogel +10 more
wiley +1 more source
Sleep Disordered Breathing in Children with Neuromuscular Disease. [PDF]
Children (Basel), 2023 Chidambaram AG +3 more
europepmc +1 more source
Noninvasive Positive Pressure Ventilation in Neuromuscular Disease [PDF]
, 1994 Nicholas S. Hill
openalex +1 more source
HCN2‐Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models
Annals of Neurology, EarlyView.Objective We aimed to characterize the phenotypic spectrum and functional consequences associated with variants in HCN2, encoding for the hyperpolarization‐activated cyclic nucleotide (HCN) gated channel 2. Methods GeneMatcher facilitated the recruitment of 21 individuals with HCN2 variants from 15 unrelated families, carrying HCN2 variants.
Clara Houdayer +52 more
wiley +1 more source
Journal of Pediatric Rehabilitation Medicine, 2016 Russell J, Butterfield +1 more
openaire +3 more sources
Toward Natural Limb Function: A New Era in Prosthetic Innovation
Annals of Neurology, EarlyView.The past decade has witnessed groundbreaking clinical implementation of neuroprosthetic limbs driven by signals from peripheral targets (eg, nerves and muscle) and the brain to restore limb function for individuals with limb loss or impairment. In this review, we highlight recent key clinical trials in peripheral neuroprosthetic interfaces directly ...
Yucheng Tian +4 more
wiley +1 more source