Results 151 to 160 of about 7,051 (240)

Impact of cystic fibrosis transmembrane conductance regulator modulator therapies on liver stiffness and liver enzymes: An observational perspective single‐center cohort study

JPGN Reports, EarlyView.
Abstract Objectives The efficacy of cystic fibrosis transmembrane conductance regulator (CFTR)‐modulator therapies in preventing or ameliorating cystic fibrosis liver disease (CFLD) by correcting CFTR in cholangiocytes is not well‐documented. This study aimed to assess liver function during CFTR‐modulators.
Laura Giugliano, Elisabetta Augustoni, Antonio Pizzol, Anna Opramolla, Cristina Chiadò, Anna Zagaria, Irene Esposito, Giulia Roberto, Alice Ponte, Andrea Evangelista, Paola Quarello, Michele Pinon, Pier Luigi Calvo   +12 more
wiley   +1 more source

Clinical and Molecular Features of BAP1‐Mutated Meningiomas: Case Series

Molecular Carcinogenesis, EarlyView.
ABSTRACT BRCA1‐associated protein 1 (BAP1)‐deficient meningiomas represent a clinically and molecularly distinct subgroup with variable histology and aggressive behavior that may not be fully captured by current grading criteria. The clinical spectrum of BAP1 alterations in meningiomas, including both somatic and germline contexts, remains incompletely
Ivan Pradilla, Rasha Alfattal, Susan L. McGovern, Shaan M. Raza, Franco DeMonte, Leomar Y. Ballester, Chirag B. Patel, Carlos Kamiya‐Matsuoka   +7 more
wiley   +1 more source

Data‐Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño, Shekeeb S. Mohammad, Rajeshwar Reddy Angiti, Velda Han, Michel Tchan, Russell C. Dale, Victor S.C. Fung   +6 more
wiley   +1 more source

Characterization of runs of homozygosity in Gyr cattle genome

, 2017
Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)
openaire   +1 more source

Co‐ and Multi‐Pathologies in Parkinson's Disease: An International Parkinson and Movement Disorder Society Scientific Issues Committee Review

Movement Disorders, EarlyView.
Abstract Parkinson's disease (PD) has been historically defined as a disease of striatal dopamine deficiency secondary to degeneration of dopaminergic neurons in the substantia nigra pars compacta, related to the presence of Lewy bodies and Lewy neurites.
Michele Matarazzo, Per Borghammer, Inas Elsayed, Jennifer G. Goldman, Yue Huang, Katja Lohmann, Per Svenningsson, Lorraine V. Kalia, Daniela Berg, Jeffrey H. Kordower, the MDS Scientific Issues Committee   +10 more
wiley   +1 more source

Visualization of Runs of Homozygosity and Classification Using Convolutional Neural Networks. [PDF]

Biology (Basel)
Bakoev S, Kolosova M, Romanets T, Bakoev F, Kolosov A, Romanets E, Korobeinikova A, Bakoeva I, Akhmedli V, Getmantseva L.   +9 more
europepmc   +1 more source

Electroencephalography‐Based Clustering Reveals Robust Neurophysiological Subtypes in Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background Parkinson's disease (PD) is clinically heterogeneous, with substantial variability in motor and cognitive features. Conventional clinical scales provide limited insight into underlying neural mechanisms and show poor longitudinal stability.
Daniel Vered, Zoya Katzir, Idan Daniel Grosbard, Avner Thaler, Inbal Maidan   +4 more
wiley   +1 more source

Predicting productive, health, and reproductive traits in Mexican Holstein cattle using single nucleotide polymorphisms, haplotypes, and runs of homozygosity. [PDF]

JDS Commun
Cortes-Hernández JG, Martinez-Boggio G, Peñagaricano F, Montaldo HH, Ruiz-López FJ, García-Ruiz A.   +5 more
europepmc   +1 more source

The GBA1 p.E427K (p.E388K) Variant Is a Risk Factor for Synucleinopathies: A Meta‐Analysis

Movement Disorders, EarlyView.
Abstract Background Variants in GBA1 are important genetic risk factors for synucleinopathies, including Parkinson's disease (PD). Although several GBA1 variants are established risk or severity modifiers, the role of the p.E427K variant remains unclear.
Leah V. Chifamba, Sitki Cem Parlar, Emma N. Somerville, Lang Liu, Eric Yu, Farnaz Asayesh, Jamil Ahmad, Meron Teferra, Jennifer A. Ruskey, Cheryl Waters, Oury Monchi, Yves Dauvilliers, Nicolas Dupré, Alla Timofeeva, Anton Emelyanov, Sofya Pchelina, Irina Miliukhina, Lior Greenbaum, Sharon Hassin‐Baer, Orly Goldstein, Mandy Radefeldt, Peter Bauer, Christian Beetz, Allison A. Dilliott, James C. Beck, Konstantin Senkevich, ROPAD Study Group, The Parkinson's Foundation PD GENEration Study, Christine Klein, Roy N. Alcalay, Ziv Gan‐Or   +30 more
wiley   +1 more source

Genetic diversity and runs of homozygosity in Rendena cattle

, 2021
Somenzi, E., Franceschi, N., Barbato, M., Colli, N., Partel E., Komjanc, M., Achilli, A., Hauffe, H. C., Ajmone Marsan, P.   +8 more
openaire   +3 more sources