Results 201 to 210 of about 52,839 (293)

Novel <i>TMEM63A</i> mutation associated with transient hypomyelination of infancy - lessons from a previously negative whole-exome sequencing case: Three case reports. [PDF]

World J Clin Pediatr
Chanvanichtrakool M, Kulsirichawaroj P, Jaito W, Pho-Iam T, Kamolvisit W, Likasitwattanakul S.   +5 more
europepmc   +1 more source

Genetic sequencing of children with malrotation and midgut volvulus: A cross‐sectional study

JPGN Reports, EarlyView.
Abstract Objectives Intestinal malrotation with midgut volvulus can cause a particularly severe form of pediatric intestinal failure and is often a cause of ultra‐short bowel syndrome (SBS), with longer dependence on parenteral nutrition. While malrotation can be found in several genetic syndromes, most occurrences of this condition are not associated ...
Jonathan A. Salazar, Shira Rockowitz, Courtney E. French, Wanqing Shao, Daniel M. Elman, Alexandra N. Carey, Tom Jaksic, Piotr Sliz, Wen Hann Tan, Christopher P. Duggan   +9 more
wiley   +1 more source

Novel Clinical and Neurophysiological Insights in Neonatal-Onset 3-Methylglutaconic Aciduria Type VIII due to HTRA2 Mutations. [PDF]

Mol Genet Genomic Med
Belmessieri B, Brunetti S, Malerba L, Martelli P, Giordano L, Plumari M, Errichiello E, Accorsi P.   +7 more
europepmc   +1 more source

Movement Disorders in Developmental and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Monogenic developmental and epileptic encephalopathies (DEE) frequently feature co‐occurring movement disorders. Gene discovery has expanded epilepsy‐dyskinesia syndromes (EDS) from classic associations such as stereotypies in Rett syndrome to PRRT2‐related infantile seizures with paroxysmal dyskinesia and crouched gait in SCN1A ...
Shekeeb Mohammad, Darius Ebrahimi‐Fakhari, Hugo Morales‐Briceno   +2 more
wiley   +1 more source

Bilateral Corneal Dystrophy Revealing Mucolipidosis Type IV: A Case Report. [PDF]

Cureus
Bousellam B, Eddaoui HA, Regragui A, Benchekroun N, Belmekki M.   +4 more
europepmc   +1 more source

Data‐Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño, Shekeeb S. Mohammad, Rajeshwar Reddy Angiti, Velda Han, Michel Tchan, Russell C. Dale, Victor S.C. Fung   +6 more
wiley   +1 more source

Case Report: Ultra-early nusinersen initiation with pre-procedural spinal ultrasound-assisted intrathecal access in a symptomatic neonate with spinal muscular atrophy. [PDF]

Front Pediatr
Xie N, Sui Y, Zhang Y, Zhang L, Li J, Sun Y, Liu X.   +6 more
europepmc   +1 more source

Precision Medicine in Neurodegeneration with Brain Iron Accumulation (NBIA) Disorders: An Update on Emerging Treatments

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Neurodegeneration with Brain Iron Accumulation (NBIA) is a heterogeneous group of heritable, mostly recessive, progressive neurodegenerative diseases characterized by iron deposition in the basal ganglia and brainstem. There are no solid global epidemiological data on prevalence and incidence of NBIA subtypes, but registry data and ...
Susanne A. Schneider, Divyani Garg, Vassilena Iankova, Thomas Klopstock   +3 more
wiley   +1 more source

Lower Urinary Tract Symptoms as Diagnostic Clues in Parkinsonism: A Practical Framework for Neurologists

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Lower urinary tract symptoms (LUTS) are among the most prevalent nonmotor complaints across the parkinsonian spectrum, yet they remain underutilized as diagnostic and management signals in neurology practice. Although prior reviews have characterized disease‐specific patterns of urinary dysfunction, and recent guidelines address ...
Saar Anis, Omer Anis, Abhishek Lenka, Junaid H. Siddiqui   +3 more
wiley   +1 more source