Results 41 to 50 of about 443,239 (291)

The Diverse Neuromuscular Spectrum of VPS13A Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective VPS13A disease (chorea‐acanthocytosis) is a rare neurodegenerative disorder caused by biallelic variants in VPS13A, typically presenting with hyperkinetic movement disorders, while neuromuscular signs are often mild. The aim of the project was to investigate the frequency and severity of neuromuscular impairment in VPS13A disease ...
Anne Buchberger, Evamaria Riedel, Marie Hackenberg, Alexander Mensch, Stefanie Beck‐Woedl, Joohyun Park, Tobias B. Haack, Bernhard Haslinger, Jan Kirschke, Holger Prokisch, Andreas Hermann, Christian Mawrin, Adrian Danek, Benedikt Schoser, Kevin Peikert, Marcus Deschauer, Isabell Cordts   +16 more
wiley   +1 more source

Metal Enrichment of the Intergalactic Medium in Cosmological Simulations [PDF]

, 2001
Observations have established that the diffuse intergalactic medium (IGM) at z ~ 3 is enriched to ~0.1-1% solar metallicity and that the hot gas in large clusters of galaxies (ICM) is enriched to 1/3-1/2 solar metallicity at z=0.
Anthony Aguirre, Breitschwerdt D., Breitschwerdt D., Chiao R. Y., David H. Weinberg, Duley W. W., Ferrara A., Fukumoto J., Gavazzi G., Jeffrey Gardner, Joop Schaye, Lars Hernquist, Nath B. B., Neal Katz, Scalo J. M., Shustov B. M., Simonsen J. T., Zucca E.   +17 more
core   +3 more sources

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

The Refractory-to-Ice Mass Ratio in Comets [PDF]

, 2018
We review the complex relationship between the dust-to-gas mass ratio usually estimated in the material lost by comets, and the Refractory-to-Ice mass ratio inside the nucleus, which constrains the origin of comets.
Blum, J., Blum, J., Fulle, M., Green, S.F., Gundlach, B., Herique, A., Moreno, Fernando, Mottola, S., Rotundi, A., Snodgrass, C.   +9 more
core   +5 more sources

Scoliosis Surgery in a Patient With Advanced Friedreich's Ataxia—It Is Not Too Late

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Friedreich's ataxia is a multisystem disorder with scoliosis being the most common non‐neurological manifestation. While scoliosis surgery is typically performed in adolescent, ambulatory patients, few data exist on surgical outcomes in patients with advanced disease.
Kathrin Reetz, Stella A. Lischewski, Jörg B. Schulz, Maximilian Praster, Miguel Pishnamaz, on behalf of the FACROSS study group, Imis Dogan, Sandro Romanzetti, Ravi Dadsena, Kerstin Konrad, Thomas Clavel, Vera Jankowski, Joachim Jankowski, Oliver Pabst, Nikolaus Marx, Julia Moellmann, Malte Jacobsen, Katharina Marx‐Schütt, Juergen Dukart, Simon Eickhoff, Ralf‐Dieter Hilgers   +20 more
wiley   +1 more source

The Zebrafish (Danio rerio) Is a Relevant Model for Studying Sex-Specific Effects of 17β-Estradiol in the Adult Heart [PDF]

, 2019
Cardiovascular diseases are a major cause of morbidity and mortality, and there are significant sex differences therein. However, the underlying mechanisms are poorly understood.
Hassel, David, Hein, Selina, Kararigas, Georgios   +2 more
core   +1 more source

Acoustic Measures Capture Speech Dysfunction in Spinocerebellar Ataxia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinocerebellar ataxias (SCA) are hereditary cerebellar degenerative disorders with a common feature of dysarthria, involving impaired phonatory and articulatory control of speech, thereby affecting social communication. In this study, we investigated whether acoustic measures could objectively measure speech dysfunction and identify
Zena Fadel, Charlotte Hennessey, Hannah Lee, Pia Parekh, Sheng‐Han Kuo, Ami Kumar   +5 more
wiley   +1 more source

Management, survival, and predictors of mortality among hospitalized heart failure patients at Debre Markos comprehensive specialized hospital, Northwest Ethiopia: Prospective cohort study

SAGE Open Medicine, 2021
Introduction: Heart failure is a major public health problem worldwide. Since heart failure with reduced ejection fraction and preserved ejection fraction are different clinical entities, in-hospital mortality may occur at different rates.
Bekalu Kebede, Melese Getachew, Yalew Molla, Bereket Bahiru, Bekalu Dessie   +4 more
doaj   +1 more source

Impact of Renal Impairment on Beta-Blocker Efficacy in Patients With Heart Failure. [PDF]

, 2019
BACKGROUND: Moderate and moderately severe renal impairment are common in patients with heart failure and reduced ejection fraction, but whether beta-blockers are effective is unclear, leading to underuse of life-saving therapy.
Andersson, B, Anker, SD, Beta-Blockers in Heart Failure Collaborative Group, Böhm, M, Cleland, JGF, Coats, AJS, Damman, K, Flather, MD, Gill, SK, Holmes, J, Kjekshus, J, Kotecha, D, Manzano, L, McMurray, JJV, Packer, M, Redon, J, Rigby, AS, Rosano, G, Ruschitzka, F, van Veldhuisen, DJ, von Lueder, TG, Wedel, H, Wikstrand, J   +22 more
core   +8 more sources

Cancer Risk in Patients With Systemic Sclerosis: A Nationwide Cohort Study in South Korea 2004 to 2021

Arthritis Care &Research, EarlyView.
Objective Systemic sclerosis (SSc) is a rare autoimmune disease characterized by tissue fibrosis, vasculopathy, and immune dysregulation. Our objectives were to quantify the overall and site‐specific cancer risks in patients with SSc compared to the general population, examine temporal trends in cancer incidence following SSc diagnosis, and explore ...
Jihyun Na, Su Jin Choi, Sojeong Park, Minae Park, Doo‐Ho Lim   +4 more
wiley   +1 more source