Results 31 to 40 of about 338,913 (237)
Frontiers in Cell and Developmental Biology, 2023 Phelan-McDermid syndrome (PMS) is a syndromic form of Autism Spectrum Disorders (ASD) classified as a rare genetic neurodevelopmental disorder featuring global developmental delay, absent or delayed speech, ASD-like behaviour and neonatal skeletal muscle
Berra Yildiz +9 more
doaj +1 more source
Frequency and Causes of Hypotonia in Neonatal Period with the Gestational Age of More Than 36 Weeks in NICU of Mofid Children Hospital, Tehran, Iran During 2012-2014 [PDF]
, 2017 How to Cite This Article: Seyed Shahabi N, Fakhraee H, Kazemian M, Afjeh A, Fallahi M, Shariati M, Gorji F. Frequency and Causes of Hypotonia in Neonatal Period with the Gestational Age of More Than 36 Weeks in NICU of Mofid Children Hospital, Tehran ...
FAKHRAEE, Hossain +6 more
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Progressive Encephalopathy in Boys with Symptoms of Rett Syndrome and MECP2 Mutations
Pediatric Neurology Briefs, 2006 Four young boys with neonatal onset of encephalopathy, a progressive course, and MECP2 mutations are reported from the University of Alabama, Birmingham, AL Symptoms suggestive of Rett syndrome included failure to thrive, respiratory insufficiency ...
J Gordon Millichap
doaj +1 more source
Onasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective There are limited real‐world data regarding the safety and effectiveness of onasemnogene abeparvovec (OA; Zolgensma) infusion, a one‐time gene replacement therapy, for Japanese patients with spinal muscular atrophy (SMA). We aimed to improve understanding of the real‐world outcomes for OA in Japan.
Kayoko Saito +8 more
wiley +1 more source
Congenital hypotonia with favorable outcome
, 2002 Congenital hypotonia with favorable outcome is characterized by an early neonatal onset and a benign clinical course. The old term, proposed by Walton, was benign congenital hypotonia, denoting the presence of muscle weakness and hypotonia, with the ...
CRESCENZI A +3 more
core +2 more sources
Molecular Cytogenetics, 2022 Background Phelan-McDermid syndrome (PHMDS) is a rare genetic disorder mostly caused by haploinsufficincy of SHANK3 gene, and characterized by neonatal hypotonia, developmental delay, minor dysmorphic features, seizures and behavior problems.
Yousif Khalifa +4 more
doaj +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an ultra‐rare, ACTA2‐related disorder characterized by severe cerebrovascular disease, aortic aneurysms, and smooth muscle dysfunction. Using molecular dynamics simulations and in silico drug screening, we identified that sapropterin dihydrochloride (Kuvan) is a candidate capable of ...
Moran Hausman‐Kedem +9 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective The aim of this study was to characterize intellectual and motor function, neurological features including epilepsy, treatment response, and adaptive behavior in patients with pyruvate dehydrogenase complex deficiency (PDCD) in Sweden.
Antri Savvidou +6 more
wiley +1 more source
An unusual case of adolescent type 2 diabetes mellitus: Prader-Willi syndrome
Journal of Family Medicine and Primary Care, 2016 Prader-Willi syndrome (PWS) is a complex genetic disorder, characterized by neonatal hypotonia, developmental delay, short stature, childhood obesity, hypogonadism, and characteristic facial features.
Riyas Basheer +2 more
doaj +1 more source
Advanced Science, EarlyView.A ROS‐responsive biomimetic nanoparticle platform co‐delivers DIDS and Mdivi‐1 to protect mitochondria and promote neural repair after intracerebral hemorrhage. By targeting LPAR1/VDAC1‐related mitochondrial dysfunction, the nanotherapy reduces oxidative injury, neuronal apoptosis, and blood‐brain barrier disruption, improving neurological recovery and
Ling Gao +7 more
wiley +1 more source