Results 141 to 150 of about 11,997 (297)

NKX2‐1 Downstream Regulatory Structural Variants Explain a Substantial Proportion of Molecular Diagnoses in Patients With Benign Hereditary Chorea

Movement Disorders, EarlyView.
Abstract Background NKX2‐1–related disorders (NKX2‐1‐RDs) classically present with a triad of neurological, endocrine, and pulmonary manifestations, including benign hereditary chorea. However, in a fraction of patients, NKX2‐1 coding variants are not detected, and variants outside the NKX2‐1 locus have been reported.
Robin Wijngaard, Lucy Dougherty‐de Miguel, German Demidov, Galuh Astuti, Amaia Lasa‐Aranzasti, Ana Cueto‐González, Marta Correa‐Vela, Carlos Lázaro‐Hernández, Charlotte A. Haaxma, Clara D.M. van Karnebeek, David Gómez‐Andrés, Ignacio Iglesias‐Serrano, Jiddeke M. van de Kamp, Jolanda Schieving, Laura Trujillano, Marc Engelen, Beatriz Muñoz‐Cabello, Roderick P.P.W.M. Maas, Thatjana Gardeitchik, Victoria Gonzalez, Annemarie de Vreugd, Cristina Pérez‐Sanchez, Elisabet Lloveras, Erik‐Jan Kamsteeg, Maartje Pennings, Natalia Rey‐Viñets, Javier Sánchez, Ronald van Beek, Antonio Moreno‐Galdó, Lisenka E.L.M. Vissers, Kornelia Neveling, Anna Marcé‐Grau, Machteld M. Oud, Belén Pérez‐Dueñas   +33 more
wiley   +1 more source

A case report of blood pressure fluctuation, inverted Takotsubo cardiomyopathy, and pulmonary embolism: searching for a link. [PDF]

Eur Heart J Case Rep
Mazza A, Picariello C, De Luca M, Canova E, Zuin M.   +4 more
europepmc   +1 more source

Plasma 3‐O‐Methyldopa Concentration Monitoring for Treatment Optimization in Foslevodopa/Foscarbidopa Infusion: Implications for Corrected Levodopa Availability: A Case Report

Movement Disorders Clinical Practice, EarlyView.
Shohei Okusa, Kotaro Okada, Yoshihiro Nihei, Risano Sakai, Takeshi Akiyoshi, Tomonori Nukariya, Jin Nakahara, Hisakazu Ohtani, Morinobu Seki   +8 more
wiley   +1 more source

Rare‐Variant Burden Analysis of Dystonia Genes in Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background Dystonia frequently coexists with Parkinson's disease (PD), yet the extent of genetic overlap remains insufficiently explored. Objective The aim was to examine whether rare variants in dystonia‐related genes are associated with PD or early‐onset PD (EOPD).
Sajanth Kanagasingam, Sitki Cem Parlar, Lang Liu, Ziv Gan‐Or, Konstantin Senkevich   +4 more
wiley   +1 more source

A Novel Mouse Model of Sympathoadrenal Catecholamine Deficiency by Ablation of the Tyrosine Hydroxylase Gene With Slc6a4-Cre. [PDF]

J Neurochem
Ogawa R, Fukumoto R, Hara S, Hayashi N, Ichinose H.   +4 more
europepmc   +1 more source

Levodopa and Melanoma: Practical Recommendations for Parkinson's Disease—International Parkinson and Movement Disorder Society Scientific Issues Committee Viewpoint

Movement Disorders Clinical Practice, EarlyView.
Giorgia Sciacca, Inas Elsayed, Santiago Perez‐Lloret, Tiago F. Outeiro, Vivek K. Unni, Jeffery H. Kordower, Daniela Berg, Lorraine V. Kalia, on behalf of the MDS Scientific Issues Committee, Jane Alty, Alexander Balck, Daniela Berg, Per Borghammer, Inas Elsayed, Yue Huang, Walaa Kamel Elsayed, Jeffrey Kordower, Alexander Lehn, Michele Matarazzo, Tiago Mestre, Tiago Outeiro, Gian Pal, Santiago Perez Lloret, Roopa Rajan, Sephira Ryman, Giorgia Sciacca, Per Svenningsson, Lorraine Kalia   +27 more
wiley   +1 more source

Current Cell/Organoid and Animal Models for Primary Sclerosing Cholangitis

Portal Hypertension &Cirrhosis, EarlyView.
Primary sclerosing cholangitis (PSC) is a chronic cholestatic liver disease with limited therapeutic options and a marked risk of progression to biliary fibrosis, cirrhosis, and malignancy. Progress in PSC research has been hindered by the lack of models that faithfully recapitulate the complex biliary microenvironment and disease heterogeneity ...
Qigu Yao, Sheng Cheng, Qiaoling Pan, Jiong Yu, Hongcui Cao   +4 more
wiley   +1 more source

Newborn metabolomic perturbations associated with prenatal tobacco smoke exposure and early birth. [PDF]

Commun Med (Lond)
Nesbeth PC, Lyu X, Dunlop AL, Tan Y, Barr DB, Yakimavets V, Panuwet P, Ren M, Eick SM, Rushing BR, McRitchie SL, Sumner S, Ryan PB, Corwin EJ, Jones DP, Liang D.   +15 more
europepmc   +1 more source

Peptide‐based antibacterial nanoplatforms: Design principles, stimuli‐regulated behaviors, and applications

Responsive Materials, EarlyView.
Peptide‐based antibacterial nanoplatforms, encompassing self‐assembled peptides and peptide‐engineered inorganic, polymeric, and lipid nanocarriers, are systematically reviewed. The article highlights design principles and stimuli‐responsive regulation for improving peptide stability, delivery efficiency, and antibacterial performance.
Peng Tan, Chenlong Zhou, Shuaikang Yang, Zhenduo Chen, Guanghui Zhao, Qi Tang, Haoyu Yan, Feng Li, Xi Ma   +8 more
wiley   +1 more source

Metal anchoring strategy: electrochemical sensor with excellent performance in gastrointestinal secretions. [PDF]

RSC Adv
Ji J, Shen B, Yang F, Li S, Wang Y, Yang L, Lin H.   +6 more
europepmc   +1 more source