Results 181 to 190 of about 1,967,106 (296)

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

Integrating VNIR-SWIR Spectroscopy and Handheld XRF for Enhanced Mineralogical Characterization of Phosphate Mine Waste Rocks in Benguerir, Morocco: Implications for Sustainable Mine Reclamation. [PDF]

Sensors (Basel)
Mansour AE, Najih A, Ouzemou JE, Laamrani A, Elghali A, Hakkou R, Benzaazoua M.   +6 more
europepmc   +1 more source

Persistent Leukoencephalopathy Following H1N1 Infection Associated With a Novel MYRF Variant (p.Gly735Asp)

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Mutations in myelin regulatory factor (MYRF) are linked to demyelinating disorders. We report a 38‐year‐old male who developed acute symmetric leukoencephalopathy mimicking a stroke following an influenza A virus infection. While clinical symptoms markedly improved with corticosteroids, MRI revealed persistent white matter lesions, contrasting
Jinghan Hu, Leiyun Huang, Wan Zhu, Min Peng, Qiang Gong, Jing Qian   +5 more
wiley   +1 more source

Prevalence, predictors, and natural history of hypophosphatemia following iron infusion. [PDF]

JBMR Plus
Dawson C, Pak LK, Paul E, Szwarcbard N, Hackman K.   +4 more
europepmc   +1 more source

The Electrical Properties of Melanin: a Non-Toxic Photocatalyst for Energy Storage and Conversion as an Additive in a Sodium Phosphate Aqueous Electrochemical Cell

, 2020
Tiago Zeitoune
openalex   +1 more source

Diagnostic Utility of the ATG9A Ratio in AP‐4–Associated Hereditary Spastic Paraplegia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adaptor protein complex 4–associated hereditary spastic paraplegia (AP‐4‐HSP), a childhood‐onset neurogenetic disorder and frequent mimic of cerebral palsy, is caused by biallelic variants in the adaptor protein complex 4 (AP‐4) subunit genes (AP4B1 [for SPG47], AP4M1 [for SPG50], AP4E1 [for SPG51], and AP4S1 [for SPG52]).
Habibah A. P. Agianda, Hyo‐Min Kim, Nicole Battaglia, Joshua Rong, Amy Tam, Enrique Gonzalez Saez‐Diez, Cornelius F. Boerkoel, Afshin Saffari, Vicente Quiroz, Luca Schierbaum, Zainab Zaman, Katerina Bernardi, Darius Ebrahimi‐Fakhari   +12 more
wiley   +1 more source

Watching Alkaline Phosphatase Catalysis Through Its Vibrational Fingerprint. [PDF]

Biology (Basel)
Tamagnini M, Jiang H, Klivansky L, Bustamante C, Lanzara A.   +4 more
europepmc   +1 more source

Infigratinib Phosphate

American Journal of Health-System Pharmacy, 2021
openaire   +2 more sources

Synergistic Roles of FAHD‐1 and PYC‐1 in Mitochondrial Function, Behavior, and Longevity in C. elegans

Advanced Biology, EarlyView.
FAHD‐1 and PYC‐1 catalyze opposing mitochondrial reactions that regulate oxaloacetate homeostasis in Caenorhabditis elegans. Using single and double knockouts, this study reveals that both enzymes shape locomotion, reproduction, respiration, and lifespan.
Riccardo Giaquinta, Andreas Andric, Matthias Scheppach, Alexander K. H. Weiss   +3 more
wiley   +1 more source

Adsorption of phosphates on a novel eggshell Ca-modified anaerobic sludge-based biochar: Adsorption performance and mechanism. [PDF]

PLoS One
Zhuo GH, Xue DX, Huang LF, Wang Q, Zhu G, Wang CY.   +5 more
europepmc   +1 more source