Results 231 to 240 of about 39,175 (290)

High Genetic Diagnostic Yield for Patients with Rare Movement Disorders at a Single‐Center Neurogenetics Clinic

Movement Disorders Clinical Practice, EarlyView.
Abstract Background As advanced molecular testing is incorporated into routine clinical practice, accessibility and yield remain limited. Objectives We propose a simplified and effective workup strategy to maximize diagnostic yield based on presented diagnostic yield of rare movement disorders at a tertiary Neurogenetics Clinic.
Dvir Penn, Yam Amir, Gil Ben David, Alina Kurolap, Dalit Barel, Uri Hamiel, Michal Bach, Emil Elhanan, Tali Barkan, Daphna Marom, Adi Mory, Noga Simantov, Gadi Maayan Eshed, Achinoam Faust‐Socher, Vered Livneh, Avner Thaler, Nurit Omer, Tamara Shiner, Nir Giladi, Tanya Gurevich, Hagit Baris Feldman, Roy N. Alcalay, Yuval Yaron, Penina Ponger   +23 more
wiley   +1 more source

Directed Evolution of Nonheme Iron Enzymes for Enantioselective Aminative Difunctionalization of Alkenes. [PDF]

JACS Au
Liu F, Li SY, Fan ZS, Luo JH, Zeng X, Wei L, Li Y, Li JY, Zheng Y, Wang X, Zhang C, Chen P, Jia ZJ.   +12 more
europepmc   +1 more source

Secretome released from hydrogel-embedded adipose mesenchymal stem cells protects against the Parkinson’s disease related toxin 6-hydroxydopamine [PDF]

, 2017
Armando, Chierchia, Boeri, Lucia, Diego, Albani, Gianluigi, Forloni, Giordano, Carmen, Giovanni Antonio Riva,, Nino, Chirico, Raimondi, Ilaria, Raimondi, MANUELA TERESA, Tunesi, Marta   +9 more
core   +1 more source

Rare but Relevant? Assessing Variants in Dystonia‐Linked Genes in Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background Dystonia and Parkinson's disease (PD) exhibit clinical and genetic overlap, but the relevance of dystonia gene variants in PD remains unclear. Objective The aim was to assess the frequency of dystonia‐linked pathogenic variants in PD.
Lara M. Lange, Zih‐Hua Fang, Laurel Screven, Ai Huey Tan, Roy N. Alcalay, Rim Amouri, Roberta Bovenzi, Matilda Fenn, Joshua L.I. Frost, Joseph Jankovic, Simona Jasaityte, Zane Jaunmuktane, Beomseok Jeon, Ignacio Juan Keller Sarmiento, Rejko Krüger, Gregor Kuhlenbäumer, Chin‐Hsien Lin, Lukas Pavelka, Maria Teresa Periñan, Samia Ben Sassi, Tommaso Schirinzi, Jung Hwan Shin, Joshua M. Shulman, Yi Wen Tay, Ryan Uitti, Tom Warner, Zbigniew K. Wszolek, Lesley Wu, Ruey‐Meei Wu, Kirsten E. Zeuner, Cornelis Blauwendraat, Andrew Singleton, Niccolò E. Mencacci, Huw R. Morris, Shen‐Yang Lim, Katja Lohmann, Christine Klein, the Global Parkinson's Genetics Program (GP2)   +37 more
wiley   +1 more source

Money for nothing? Risks in biopharmaceutical companies from the perspective of public financiers

, 2008
Laura Heinonen, Birgitta Sandberg
openalex   +1 more source

Application of model uncertainty analysis on the modelling of the drying behaviour of single pharmaceutical granules [PDF]

, 2012
Cierkens, Katrijn, De Beer, Thomas, Gernaey, Kris, Mortier, Séverine, Nopens, Ingmar, Van Hoey, Stijn   +5 more
core  

The Contribution of Cholesterol and Squalene Synthase in Cancer: Molecular Mechanisms, Lipid Rafts and Therapeutic Approaches

Medicinal Research Reviews, EarlyView.
ABSTRACT A plethora of cellular signaling pathways are dysregulated in cancer cells, promoting carcinogenesis and migration. Cholesterol has recently been linked to cancer by several subcellular mechanisms, especially by its involvement in the formation of lipid rafts, which promote oncogenic signaling and cancer cell invasion. Squalene synthase (SQS),
Danai Mavridi, Theodora Katavati, Angeliki P. Kourounakis   +2 more
wiley   +1 more source

Advanced Pharmaceutical Science and Technology in Israel. [PDF]

Pharmaceutics
Dahan A.
europepmc   +1 more source

Deep Eutectic Solvents in Polymeric Drug Carriers: Insights into Release Behavior and Functional Integration

ChemistryOpen, EarlyView.
Incorporating deep eutectic solvents into polymer‐based drug delivery systems (DDS) offers a sustainable route to enhance solubility, modify drug release, and create dual‐function carriers. This review explores how DES influence polymer structures and DDS performance, highlighting future prospects in personalized, responsive pharmaceutical technologies.
Nining Nining, Yoga Windhu Wardhana, Taofik Rusdiana, Hariyanti Hariyanti   +3 more
wiley   +1 more source

iBCS: 4. Application of the Inhalation Biopharmaceutics Classification System to the Development of Orally Inhaled Drug Products. [PDF]

Mol Pharm
Forbes B, Bäckman P, Cabal A, Clark A, Ehrhardt C, Hastedt JE, Hickey AJ, Hochhaus G, Jiang W, Kassinos S, Kuehl PJ, Olsson B, Prime D, Son YJ, Teague S, Tehler U, Wylie J.   +16 more
europepmc   +1 more source