Results 181 to 190 of about 20,996 (348)

Frailty Index and Incident Mortality, Hospitalization, and Institutionalization in Alzheimer's Disease: Data From the ICTUS Study.

The journals of gerontology. Series A, Biological sciences and medical sciences, 2016
E. Kelaiditi, S. Andrieu, C. Cantet, B. Vellas, M. Cesari   +4 more
semanticscholar   +1 more source

Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier, Jodi Warman‐Chardon, Danielle K. Bourque   +2 more
wiley   +1 more source

[Gait Training Using Robotic Devices in Subjects With Stroke: An Overview of Systematic Reviews and Meta-analysis]. [PDF]

Rev Neurol
Chamorro-Hinojosa JA, Molina-Rueda F, Carratalá-Tejada M.   +2 more
europepmc   +1 more source

Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult‐Onset in a 46‐Year‐Old Male

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Griscelli Syndrome Type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic mutations in the RAB27A gene. Typically, it is characterized by cutaneous hypopigmentation, immunodeficiency, with or without neurological abnormalities secondary to hemophagocytic lymphohistiocytosis (HLH). Without treatment, GS2 often results in fatal
Dzhoy Papingi, Michael Kutsche, Helena Lichtenfeld, Fanny Kortüm, Angela Abicht, Laura Herrmann, Theresia Herget   +6 more
wiley   +1 more source

Treatment strategies, complications, and outcomes in spontaneous cerebellar hemorrhage: a swedish observational single-center study. [PDF]

Acta Neurochir (Wien)
Sida H, Kevci R, Velle F, Lewén A, Fahlström A, Enblad P, Svedung Wettervik T.   +6 more
europepmc   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Association between systemic inflammation biomarkers and outcomes in patients with aneurysmal subarachnoid hemorrhage. [PDF]

Front Neurol
Giovampaola MD, Vieno A, Higuet A, Cavalli I, Stella C, Coppalini G, Diosdado A, Damasceno D, Freitas L, Oliveira Gomes F, Damasceno Lacerda Fernandes AC, De Magalhães MVT, Costa Dumont VW, Taccone FS, Gouvêa Bogossian E.   +14 more
europepmc   +1 more source

Ictus lacunar

Anales del Sistema Sanitario de Navarra
Este artículo no tiene resumen.
Gállego Culleré, J, Delgado, G, Aymerich, N, Villanueva, JA   +3 more
openaire   +1 more source

Developmental and Phenotypic Outcomes in Mild Phenylalanine Hydroxylase Deficiency

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Benign hyperphenylalaninemia (bHPA) is defined as elevated phenylalanine (Phe) levels remaining ≤ 360 μmol/L (6 mg/dL) and not requiring medical intervention. Individuals with bHPA may demonstrate a rise in their Phe levels > 360 μmol/L, effectively developing a mild PKU phenotype requiring therapy to prevent neurocognitive complications. This
Aaron Williams, Kristian Divin, Lindsay C. Burrage, William J. Craigen, Fernando Scaglia, Claudia Soler‐Alfonso, V. Reid Sutton, Kevin E. Glinton, Ronit Marom   +8 more
wiley   +1 more source

Admission neutrophil-to-high-density lipoprotein cholesterol ratio and the risk of preoperative early rebleed in aneurysmal subarachnoid hemorrhage. [PDF]

Eur J Med Res
Shangguan H, Xu Y, Wu Y, Chen D, Yao P, Zhang Y, Lin Y, Fang W, Zheng S, Kang D.   +9 more
europepmc   +1 more source