Results 211 to 220 of about 582,301 (339)

SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas, Pablo Iruzubieta, Alberto Damborenea, Laura Pérez‐Fernández, Inmaculada Azorín, Juan Carlos Jiménez García, Ana Töpf, Pilar Martí, Lorena Fores‐Toribio, María Manterola, Rosana Blanco‐Mañez, Oihane Pikatza‐Menoio, Sonia Alonso‐Martín, Volker Straub, Aitziber L. Cortajarena, Adolfo López de Munain, David De Sancho, Lorea Blázquez, Juan J. Vilchez   +18 more
wiley   +1 more source

Outcomes of Tiopronin and D-Penicillamine Therapy in Pediatric Cystinuria: A Clinical Comparison of Two Cases. [PDF]

Reports (MDPI)
Schaefer B, Garba A, Wu X.
europepmc   +1 more source

Studies on Calcium and Phosphorus Metabolism: Part I. The Excretion of Calcium and Phosphorus

, 1922
S. V. Telfer
openalex   +1 more source

THE EFFECT OF THE ALARM REACTION ON WATER EXCRETION [PDF]

, 1938
S. Karády, J. S. L. Browne, Hans Selye
openalex   +1 more source

Impact of APOE ε4 Genotype Load on Cognitive Function and Lipid Metabolism in Patients With Cerebral Small Vessel Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Apolipoprotein ε4 (APOE ε4) is a potent genetic risk factor for Alzheimer's disease (AD). However, its role in cerebral small vessel disease (CSVD) remains unclear. Given the clinical and pathological similarities between CSVD and AD, this study aimed to investigate the associations of APOE ε4 gene dosage with cognitive function and
Tingru Jin, Haocheng Yang, Feng Liu, Sihao Lin, Junru Hu, Jian Wang, Yulan Gou   +6 more
wiley   +1 more source

Sodium intake and biological sex influence urinary endothelin-1 in salt-resistant adults: a pilot study. [PDF]

Am J Physiol Regul Integr Comp Physiol
Nasci VL, Benjamin JI, Fetter RC, Stock JM, Romberger NT, Watso JC, Babcock MC, Wenner MM, Robinson AT, Gohar EY.   +9 more
europepmc   +1 more source

Validity of predictive equations for 24-h urinary sodium excretion in adults aged 18-39 y.

American Journal of Clinical Nutrition, 2013
M. Cogswell, Chia‐Yih Wang, Te-Ching Chen, C. Pfeiffer, P. Elliott, C. Gillespie, A. Carriquiry, C. Sempos, Kiang Liu, Cria G. Perrine, C. Swanson, K. Caldwell, C. Loria   +12 more
semanticscholar   +1 more source

The Relationship Between Inflammation and Central Nervous System in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Aim Multiple sclerosis is an autoimmune demyelination disease that is seen especially in the young population and has a progressive course, causing motor, sensory, and cognitive deficits. In the literature, the pathogenesis of MS disease and the interconnection between the immune and central nervous system in the disease have not been fully ...
Gamze Ansen, Ali Behram Salar, Abdulkadir Ermis, Erkingul Birday, Lutfu Hanoglu, Bayram Ufuk Sakul   +5 more
wiley   +1 more source

Bioavailability and Metabolic Fate of (Poly)phenols from Hull-Less Purple Whole-Grain Barley in Humans. [PDF]

Nutrients
Cortijo-Alfonso ME, Yuste S, Martínez-Subirà M, Moralejo M, Piñol-Felis C, Macià A, Rubió-Piqué L.   +6 more
europepmc   +1 more source

STUDIES OF UREA EXCRETION. II: Relationship Between Urine Volume and the Rate of Urea Excretion by Normal Adults.

Journal of Clinical Investigation, 1928
E. Möller, J. F. McIntosh, D. D. V. Slyke   +2 more
semanticscholar   +1 more source