Results 91 to 100 of about 1,822 (274)

Motor Disability and Resilience in University Students [PDF]

, 2018
Motor disability is a situation that induces disadvantage in people who suffer from it about healthy people. This situation can be accentuated in the case of university students who must fulfill diverse activities that demand different degrees of ...
Briones, M. F. (Marcelo), Intriago, H. A. (Hipatia), Ruiz, M. S. (Marlene)   +2 more
core  

The physiological and pathological effects of sphingolipid metabolism and signaling in the central nervous system

Brain Pathology, EarlyView.
Sphingolipids are vital components of cell membranes. Metabolic disruptions of sphingolipids, including ceramide and sphingosine‐1‐phosphate, are linked to neurological disorders. This article summarizes the classification, structure, and metabolic processes of sphingolipids, and the physiological and pathological effects of sphingolipid metabolism and
Tian Li, Haoying He, Ejuan Zhang, Fengjiao Hu, Zhuo Wang, Jian Xu, Mengliu Zeng, Biwen Peng   +7 more
wiley   +1 more source

How to run a brain bank. A report from the Austro-German brain bank [PDF]

, 1993
The sophisticated analysis of and growing information on the human brain requires that acquisition, dissection, storage and distribution of rare material are managed in a professional way.
Gsell, W., Heckers, S., Heinsen, H., Jellinger, K., Lange, Klaus W., Pfeuffer, R., Ransmayr, G., Senitz, D., Vock, R., Wichart, I.   +9 more
core  

High Concordance of Copy Number Variants Detected by Chromosomal Microarray and Exome Sequencing in Clinical Diagnostics

Clinical Genetics, EarlyView.
To assess the relevance of exome sequencing as a first‐tier diagnostic tool, three aspects were investigated: detection of copy number variants (CNVs) from exomes as compared to chromosomal microarray, clinically‐relevant CNVs across all sizes, and additional diagnostic utilities (uniparental disomy and triploidy).
Rivka Birnbaum, Maya Slovik, Shamir Zenvirt, Ilana Livyatan, Israel Altman, Shiri Gershon, Jonathan Rips, Hagit Daum, Chaggai Rosenbluh, Orly Elpeleg, Vardiella Meiner, Ayala Frumkin, Hagar Mor‐Shaked, Tamar Harel   +13 more
wiley   +1 more source

Chronic proximal spinal muscular atrophy of childhood and adolescence: problems of classification and genetic counselling. [PDF]

, 1985
I Hausmanowa-Pétrusewicz, Jacek Zaremba, Julita Borkowska   +2 more
openalex   +1 more source

Bulbar function in children with spinal muscular atrophy type 1 treated with nusinersen

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To describe bulbar function trajectories in patients with spinal muscular atrophy (SMA) type 1 treated with nusinersen in the UK and Italy. Method In two previously reported, retrospective, observational cohort studies, we observed the 2‐year change in the Children's Eating and Drinking Ability Scale (CEDAS) (the revised and optimized ...
Georgia Stimpson, Lavinia Fanelli, Eleanor Conway, Emily Johnson, Beatrice Berti, Mariacristina Scoto, Francesco Muntoni, Eugenio Mercuri, Giovanni Baranello, the p‐FOIS/CEDAS and OrSAT Working Group, Nikki Cornell, Giulia Stanca, Giorgia Coratti, Marika Pane   +13 more
wiley   +1 more source

Constructed growth charts and nutrition for pontocerebellar hypoplasia type 2A

Developmental Medicine &Child Neurology, EarlyView.
To our knowledge, we are the first to provide constructed disease‐specific growth charts for PCH2A (age 0–18 years). Constructed growth charts (0–2 years) for height, weight, body mass index, and head circumference are compared in a sex‐disaggregated manner to typically developing children. Failure to thrive is evident despite normal caloric intake and
Alice Kuhn, Maren Hackenberg, Anna‐Lena Klauser, Antonia Herrmann, Julia Matilainen, Simone Mayer, Saskia Frölich, Ingeborg Krägeloh‐Mann, Samuel Groeschel, Wibke G. Janzarik   +9 more
wiley   +1 more source

Childhood spinal muscular atrophy induces alterations in contractile and regulatory protein isoform expressions [PDF]

, 2008
L. Stevens, Bruno Bastide, C. A. Maurage, Erwan Dupont, Valérie Montel, Caroline Cieniewski‐Bernard, Jean‐Marie Cuisset, Louis Vallée, Yvonne Mounier   +8 more
openalex   +1 more source

ATAD3 duplications bridge mitochondrial diseases and Aicardi–Goutières syndrome

Developmental Medicine &Child Neurology, EarlyView.
ATAD3 locus duplications cause a severe neonatal mitochondrial disorder with neuroimaging features resembling interferonopathies, and suggest a mitochondrial nucleic acid‐triggered interferon response. Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16446 Abstract A recurrent 68‐kb heterozygous duplication of the ATAD3 locus ...
Pauline Planté‐Bordeneuve, Claire‐Marine Bérat, Sylvain Hanein, Cyril Gitiaux, ATAD3 Study Group, Julie Steffann, Isabelle Desguerre, Agnès Rötig, Nathalie Boddaert, Giulia Barcia, Brian Sperelakis‐Beedham, Zahra Assouline, Marie‐Thérèse Abi‐Warde, Rukhshona Abdullazoda, Agnès Guichet, Céline Bris, Aurélien Caux, Marlène Rio, Jérémy Bertrand, Pauline Gaignard, Alice Lepelley, Arnold Munnich, Manuel Schiff, Isabelle Desguerre, Agnès Rötig, Nathalie Boddaert, Giulia Barcia   +26 more
wiley   +1 more source

The Spectrum of Motor Neuron Diseases: From Childhood Spinal Muscular Atrophy to Adult Amyotrophic Lateral Sclerosis [PDF]

, 2015
Stacey A. Sakowski, Eva L. Feldman
openalex   +1 more source