Results 51 to 60 of about 2,195 (134)

Impaired gait kinematics in type 1 Gaucher’s Disease

Journal of Parkinson’s Disease, 2016
Type 1 Gaucher’s disease (GD1) is traditionally regarded as “non-neurological”. Spatiotemporal and kinematic analysis of gait was carried on thirteen GD1 patients and thirteen healthy controls.
Pierpaolo Sorrentino, Antonio Barbato, Luigi Del Gaudio, Rosaria Rucco, Pasquale Varriale, Michelina Sibilio, Pasquale Strazzullo, Giuseppe Sorrentino, Valeria Agosti   +8 more
doaj   +1 more source

Genetic risk variants implicate impaired maintenance and repair of periodontal tissues as causal for periodontitis—A synthesis of recent findings

Periodontology 2000, EarlyView.
AbstractPeriodontitis is a complex inflammatory disease in which the host genome, in conjunction with extrinsic factors, determines susceptibility and progression. Genetic predisposition is the strongest risk factor in the first decades of life. As people age, chronic exposure to the periodontal microbiome puts a strain on the proper maintenance of ...
Arne S. Schaefer, Luigi Nibali, Noha Zoheir, Niki M. Moutsopoulos, Bruno G. Loos   +4 more
wiley   +1 more source

Gaucher’s Disease (the Modern View on the Problem)

Gastroenterologìa, 2015
The article presents a literature review of the most common lysosomal storage diseases — Gaucher’s disease. This pathology is caused by a inherited deficiency in glucocerebrosidase that cleaves cerebrosides.
V.B. Yagmur
doaj   +1 more source

The what, which, when, why and who of Off responses in the auditory system

The Journal of Physiology, EarlyView.
Abstract figure legend In this article, we will first review ‘What’ different mechanisms are involved in the generation of Off responses at the sub‐cortical and cortical level of the auditory system. Then, we evaluate ‘Which’ stimulus properties elicit Off responses at the different levels of the auditory system.
Jean‐Marc Edeline, Robert C. Liu
wiley   +1 more source

Cumulative Antigen Suppression Reduces Clonal Plasma Cell Evolution in Gaucher Disease

American Journal of Hematology, Volume 101, Issue 9, Page 2197-2213, September 2026.
ABSTRACT Chronic antigenic stimulation is implicated in the pathogenesis of monoclonal gammopathy and multiple myeloma, yet longitudinal human evidence linking sustained antigen exposure to modifiable clonal plasma cell evolution remains limited. Gaucher disease (GD), caused by biallelic GBA1 pathogenic variants, is characterized by accumulation of ...
Noor Ul Ain, Noffar Bar, Lilu Guo, Katherine Klinger, Punita Gupta, Atta Ur Rahman, Ruhua Yang, Yanhong Deng, Natalia Neparidze, Shiny Nair, Pramod K. Mistry   +10 more
wiley   +1 more source

Doença de Gaucher na gravidez.

Acta Médica Portuguesa, 1997
A case of Gaucher's disease associated with pregnancy is reported. Although clinical symptoms were not present, portal hypertension was detected by ultrasound in the 13th week of pregnancy.
I B Santana, L Soares, M C Cardoso, M J Costa, J M Doria, L M Graça   +5 more
doaj   +1 more source

Characterization of Adult Patients With Neurometabolic Disorders: A Cross‐Sectional Study at a Tertiary Neurology Center in Sweden

JIMD Reports, Volume 67, Issue 5, September 2026.
ABSTRACT Adult patients with inherited metabolic diseases are often overlooked. Limited data on this population hinder adequate planning of their clinical and social care. In this retrospective, observational, cross‐sectional service evaluation study, we reviewed the electronic medical records of adult patients with inherited neurometabolic diseases ...
Boel Ernerdahl, Ashraf Yahia, Andreas Puschmann   +2 more
wiley   +1 more source

Glucagon‐Like Peptide‐1 Receptor Agonists and Incident Major Adverse Liver Outcomes in People With Type 2 Diabetes and Metabolic Dysfunction‐Associated Steatotic Liver Disease

Diabetes, Obesity and Metabolism, Volume 28, Issue 9, Page 8277-8287, September 2026.
ABSTRACT Aims Treatment options for metabolic dysfunction‐associated steatotic liver disease (MASLD) are limited. While glucagon‐like peptide‐1 receptor agonists (GLP‐1 RA) and sodium‐glucose cotransporter‐2 (SGLT‐2) inhibitors improve cardiovascular outcomes, comparative effectiveness on liver‐related outcomes remains unclear.
Gregor A. Maier, Ramon A. Hofmann, Michael Roden, Wolfgang Rathmann, Oliver Kuss   +4 more
wiley   +1 more source

Epigenetic Mechanisms Underlying Cognitive Dysfunction in Parkinson's Disease: Current Evidence and Future Prospects

Brain and Behavior, Volume 16, Issue 8, August 2026.
Epigenetic mechanismsincluding DNA methylation, histone modifications, and microRNA (miRNA) regulationmodulate gene expression without altering the DNA sequence and are increasingly implicated in the cognitive impairment associated with Parkinson's disease (PD). Environmental and molecular factors influence these epigenetic pathways, leading to altered
Fatemeh Hasani, Mohammad Ebrahim Kherad, Mohammad Sharifi Sarasyabi, Kimia Jazi, Ali Ashkbari, Payam Ahmadi, Hadise Heidarpour, Mahdi Masrour, Sina Khamaki, Rahem Rahmati, Andrei Surguchov   +10 more
wiley   +1 more source

A Systematic Review on Disease‐Modifying Therapies in Parkinsonian Disorders

Clinical Pharmacology &Therapeutics, Volume 120, Issue 2, Page 357-374, August 2026.
Parkinsonian disorders, including Parkinson's disease, Lewy body dementia, multiple system atrophy, and progressive supranuclear palsy, are progressive neurodegenerative conditions with no treatment options to slow disease progression. This systematic review provides an overview of evidence of disease‐modifying therapies that have been evaluated in ...
Pepijn P.N.M. Eijsvogel, Lars M.G. Smits, Philip H.C. Kremer, Geert Jan Groeneveld   +3 more
wiley   +1 more source