Results 161 to 170 of about 879,135 (289)

Mild form of aromatic L-amino acid decarboxylase deficiency. [PDF]

BMJ Case Rep
Kenina V, Dīriks M, Pūcīte E, Mūrmane D, Lace B.   +4 more
europepmc   +1 more source

Genetic testing in paediatric neurological disorders

Developmental Medicine &Child Neurology, EarlyView.
In this study 390 paediatric patients with neurological disorders underwent genetic testing via exome sequencing, commercial panel, in‐house epilepsy, and movement disorder gene panels. Exome sequencing provides the highest diagnostic yield, and severe developmental delay and hypotonia predicted pathogenic variants in the exome sequencing cohort ...
Wafa Bani Uraba, Byoung Chan Lee, Shekeeb S. Mohammad, Katrina Fisk, Michael Buckley, Russell C. Dale, Tony Roscioli, Paediatric Neurogenomic Working Group, Manoj P. Menezes, Sachin Gupta, Christopher Troedson, Esther Tantsis, Richard Webster, Bruce Bennetts, Deepak Gill, Kavitha Kothur   +15 more
wiley   +1 more source

Benefit of Salbutamol for the Treatment of Neuromuscular Junction Dysfunction in Patients With Purine-Rich Element Binding Protein A (PURA) Syndrome. [PDF]

Cureus
Yau ML, Beck C, Fung EL, Yiu EM, Tewierik C, Leung CH, Cheung HM, Yam KK, Wong KN, O'Neill TS, Howell KB, Chong SC.   +11 more
europepmc   +1 more source

Pharmacological and non‐pharmacological interventions for managing sleep disorders in children with cerebral palsy: A systematic review

Developmental Medicine &Child Neurology, EarlyView.
xxxxxx Aim To systematically review the effectiveness, safety, and economic evidence of pharmacological and non‐pharmacological interventions for sleep disorders in children with cerebral palsy (CP). Method Databases including MEDLINE, Embase, CENTRAL (the Cochrane Library), International Clinical Trials Registry Platform of the World Health ...
Nishant Jaiswal, Lizzie Fisher, Giorgio Ciminata, Ryan Mulholland, Anna Noel‐Storr, Lesley Nutton, Valerie Orr, Paul Eunson, Nicola J. Cooper, Alex Sutton, Olivia Wu, Terry Quinn   +11 more
wiley   +1 more source

Autism spectrum disorder assessment in cerebral palsy and other early‐onset motor conditions: A scoping review

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To map diagnostic procedures and standardized instruments reportedly used to identify autism spectrum disorder (ASD) in people with cerebral palsy or other early‐onset motor conditions (EOMC) including Rett syndrome and muscular dystrophy.
Olga Laporta‐Hoyos, Marina Fernández‐Andújar, Lee Reid, Marta Oporto‐Alonso, Júlia Ballester‐Plané, América Carrascal‐Zuluaga, María Gutiérrez‐del Hoyo, Jacqui Ferraiolo, Magnus Påhlman, Kate Himmelmann, Somer Bishop, Roser Pueyo   +11 more
wiley   +1 more source

Delineating the <i>CTBP1</i>-Related Phenotypic Spectrum: A Review of HADDTS and Atypical Variants. [PDF]

Int J Mol Sci
Akdaş EY, Lu D, Zhang L, Cheng M, Bashiri Dezfouli A, Wollenberg B.   +5 more
europepmc   +1 more source

RCC1 neuropathy mimics childhood axonal Guillain–Barré syndrome with variable clinical severity and survival

Developmental Medicine &Child Neurology, EarlyView.
We present 10 patients who presented with acute onset axonal neuropathy following infection, mimicking childhood axonal Guillain–Barré syndrome. We review phenotypes, undertake survival analysis, and assess function of novel RCC1 variants in vitro. Abstract Aim To assess the phenotype and genotype of 10 new patients with biallelic RCC1 variants who ...
Han Zhang, Beril Din, John H. McDermott, RCC1 Neuropathy Study Group, Adam Jackson, Halil Tuna Akar, Ali Dursun, Riza Koksal‐Ozgul, Reza Sadjadi, Lauren Politica, Stephan Zuchner, Reza Maroofian, Usman Ali, Dudu Turkyilmaz, Jawadur Rahman, Hasan Bas, Khalid Hussain, Khalid A Fakhro, Aljazi Al‐Maraghi, Annemarie CS Knijnenburg, Monique Engel, Debby Hellebrekers, Heike Losch, Sietse M Aukema, Marlene Kullik, Christoph Geier, Raymond T. O'Keefe, William G. Newman, J. Robert Harkness   +28 more
wiley   +1 more source

Functional characterization of a biallelic <i>MIPEP</i> variant associated with global developmental delay, infantile epileptic spasms syndrome, and hypotonia. [PDF]

Mol Genet Metab Rep
Ruzzenente B, Becker PH, Afram E, Gaignard P, Rötig A, Nyaga DM, Sharpe C, Sadleir LG, Ryder B, Metodiev MD.   +9 more
europepmc   +1 more source

1H NMR metabolomics and lipidomics analysis of neutrophils reveals biomarkers of ageing, inflammageing and frailty

The FEBS Journal, EarlyView.
Using 1H NMR metabolomics, we measured polar and lipid metabolites from human blood neutrophils from people with frailty (n = 31, mean age 84Y), people with rheumatoid arthritis (n = 16, mean age 55Y), robust older (n = 24, mean age 66Y) and healthy younger people (n = 21, mean age 22Y).
Genna Ali Abdullah, Grace Filbertine, Lucy Gill, Asangaedem Akpan, Marie M. Phelan, Helen Louise Wright   +5 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