Results 291 to 300 of about 157,645 (329)

Hereditary Spastic Paraplegia in Alberta: Lessons from a Well‐Defined Cohort Including the Indigenous Population

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Hereditary spastic paraplegias (HSP) are rare disorders sharing common features of leg spasticity with gait impairment. Simple and complex forms are recognized; over 50% of cases remain unsolved genetically. Little is known about the genetics of HSP among Indigenous Peoples. Objectives To describe clinical, radiological, and genetic
Ekhlas Assaedi, Setareh Ashtiani, Mehrdad A. Estiar, Ziv Gan‐Or, Erica D. McKenzie, Aakash Shetty, Guy Rouleau, Oksana Suchowersky   +7 more
wiley   +1 more source

Case report: Whole exome sequencing identifies a novel variant in the <i>HPRT1</i> gene in a male with developmental delay. [PDF]

Front Genet
Zheng H, Chen G, Wang T, Cheng W, Yuan J, Liu F, Xu Y.   +6 more
europepmc   +1 more source

Exploration of Neurodegenerative Diseases Using Long‐Read Sequencing and Optical Genome Mapping Technologies

Movement Disorders, EarlyView.
Abstract Genetic factors play a central role in neurodegenerative disorders. Over the past few decades, significant progress has been made in identifying the causative genes of numerous monogenic disorders, largely due to the widespread adoption of next‐generation sequencing (NGS) technologies in both research and clinical settings.
Guillaume Cogan, Kensuke Daida, Cornelis Blauwendraat, Kimberley Billingsley, Alexis Brice   +4 more
wiley   +1 more source

Genetic Risk Factors in Normal Pressure Hydrocephalus: What We Know and What Is Next

Movement Disorders, EarlyView.
Abstract Knowledge of the genetic factors in normal pressure hydrocephalus (NPH) is rapidly evolving, with significant advances in recent years. We conducted a systematic review examining genetic contributions to NPH risk. Ovid Embase, Ovid Medline, Web of Science, and Cochrane Central were searched from inception through October 14, 2024, for human ...
Camila C. Piccinin, Saar Anis, Jeryl Ritzi T. Yu, Philippe A. Salles, Henry Mauricio Chaparro‐Solano, Avery Kundrick, Shelley Ivary, James Y. Liao, Sean J. Nagel, Ignacio F. Mata   +9 more
wiley   +1 more source

Correction: Genomic landscape of hepatocellular carcinoma in Egyptian patients by whole exome sequencing. [PDF]

BMC Med Genomics
Kassem PH, Montasser IF, Mahmoud MR, Ghorab RA, AbdelHakam DA, Fathi MESA, Wahed MAA, Mohey K, Ibrahim M, El Hadidi M, Masssoud YM, Salah M, Abugable A, Bahaa M, Khamisy SE, Meteini ME.   +15 more
europepmc   +1 more source

Long‐Read Sequencing: The Third Generation of Diagnostic Testing for Dystonia

Movement Disorders, EarlyView.
Abstract Long‐read sequencing methodologies provide powerful capacity to identify all types of genomic variations in a single test. Long‐read platforms such as Oxford Nanopore and PacBio have the potential to revolutionize molecular diagnostics by reaching unparalleled accuracies in genetic discovery and long‐range phasing.
Thomas Wirth, Kishore R. Kumar, Michael Zech   +2 more
wiley   +1 more source

Whole Exome Sequencing in Drug-Induced Angioedema Caused by Angiotensin-Converting Enzyme Inhibitors: A Pilot Study in Five Patients. [PDF]

J Clin Med
Mendoza-Alvarez A, Martinez-Tadeo JA, Perez-Rodríguez E, Barrios-Recio J, García-Robaina JC, Corrales A, Marcelino-Rodríguez I, Lorenzo-Salazar JM, González-Montelongo R, Flores C, Callero A.   +10 more
europepmc   +1 more source

Multiple Scalp and Neck Lesions in an 80‐Year‐Old Man

JEADV Clinical Practice, EarlyView.
Stephanie L. Ryan, Nicholas Stefanovic, Li J. H. Yoo, Richard Watchorn, Christian Gulmann, Gregg Murray   +5 more
wiley   +1 more source