Results 161 to 170 of about 1,017,559 (266)

Pathology and Molecular Diagnosis of Marek's Disease Virus in Chickens in Nigeria. [PDF]

Scientifica (Cairo)
Fagbohun OA, Oluladun AC, Jarikre TA, Alaka OO, Oyagbemi AA, Adesina RD, Esan OO, Akinniyi OO, Adetona MO, Omobowale TO, Mamoh UJ, Jaja IF.   +11 more
europepmc   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

LAMP-coupled CRISPR-Cas12a assays: A promising new tool for molecular diagnosis of leishmaniasis. [PDF]

PLoS Negl Trop Dis
Dueñas E, Tirado I, Huaihua P, Parra Del Riego A, Cabrera-Sosa L, Nakamoto JA, Cruz M, Restrepo CM, Arévalo J, Adaui V.   +9 more
europepmc   +1 more source

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

Exome sequencing enables molecular diagnosis in 10% of early-onset or familial systemic lupus erythematosus cases. [PDF]

EBioMedicine
Tusseau M, Khaldi-Plassart S, Labalme A, Mathieu AL, Riller Q, Molitor C, Simonet T, Viel S, Gaboriaud C, Thielens N, Heiser L, Chopin E, Rouvet I, Fabien N, Goncalves D, Fremeaux-Bacchi V, El-Sissy C, Pottier N, Larrue R, Ranchin B, Laurent A, Fouillet-Desjonqueres M, Jouret M, Mekinian A, Yamashita M, Morio T, Hachulla E, Melki I, Kone-Paut I, Ballot C, Reumaux H, Pillet P, Harambat J, Richez C, Richer O, Hatchuel Y, Louillet F, Lega JC, Durieu I, Welfringer-Morin A, Picard C, Messadi W, Sarrot-Reynauld F, Sanlaville D, Bader-Meunier B, Walzer T, Lesca G, Rieux-Laucat F, Belot A, GENIAL/LUMUGENE Collaborators.   +49 more
europepmc   +1 more source

Multidimensional Profiling of MRI‐Negative Temporal Lobe Epilepsy Uncovers Distinct Phenotypes

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Although hippocampal sclerosis (TLE‐HS) represents the most frequent cause of temporal lobe epilepsy (TLE), up to 30% of patients show no lesion on visual MRI inspection (TLE‐MRIneg). These cases pose diagnostic and therapeutic challenges and are underrepresented in surgical series.
Alice Ballerini, Alessia Casarini, Niccolò Biagioli, Laura Mirandola, Daniela Ballotta, Paul Summers, Simona Scolastico, Laura Madrassi, Maurilio Genovese, Marcella Malagoli, Gaetano Cantalupo, Giada Giovannini, Matteo Pugnaghi, Niccolò Orlandi, Laura Tassi, Valeria Cuccarini, Domenico Aquino, Elena Tartara, Fulvia Palesi, Giuseppe Didato, Paolo Vitali, the 3TLE Study Group, Roberta Di Giacomo, Fabio Doniselli, Federica Mazzi, Carlo Andrea Galimberti, Claudia A. M. Gandini Wheeler‐Kingshott, Stefano Meletti, Anna Elisabetta Vaudano   +28 more
wiley   +1 more source

Molecular diagnosis of sepsis in hospital patients: assessment of the Agata Sepsis^® Platform. [PDF]

BMC Infect Dis
Moreno-Treviño MG, González-Salazar F, León-Cachón RBR, Rivera-Silva G, Hernández-Coria MI, Acedo-Zúñiga J, de la Peña-Mireles IA, Elizondo-Murillo JL, Garibay-Orijel C.   +8 more
europepmc   +1 more source

Paramagnetic Rim Lesions Are Associated With Trans‐Synaptic Degeneration of the Visual Pathway in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Retrograde trans‐synaptic degeneration (rTSD) from posterior visual pathway lesions in multiple sclerosis (MS) is characterized by hemi‐macular ganglion cell‐inner plexiform layer (GCIPL) thinning and contralateral visual field loss.
Abdul Jaber Tayem, Angel Liu, Sargis Manukyan, Mustafa Subhi, Elaina Luskin, Bryan Quah, Sreekanth Madhusoodhanan Nair, Arzu C. Has Silemek, Gabriela Zabala, Yujie Cui, Laura Locke, Paula Barreras, Marwa Kaisey, Vinicius Calsavara, Daniel S. Reich, Nancy L. Sicotte, Pascal Sati, Omar Al‐Louzi   +17 more
wiley   +1 more source

Diffuse leptomeningeal glioneuronal tumour: molecular diagnosis, evolution and treatment. [PDF]

Acta Neuropathol Commun
Campanelli A, Métais A, Bouchoucha Y, Beccaria K, Laprie A, Blauwblomme T, Guida L, Benichi S, Dufour C, Guerrini-Rousseau L, Simbozel M, Tauziede-Espariat A, Varlet P, Sellami N, Bolle S, Martin V, Boddaert N, Appay R, Dangouloff-Ros V, Khouri C, Bourdeaut F, Doz F, Grill J, Abbou S.   +23 more
europepmc   +1 more source

Clinical Validation of Plasma p‐217tau in Neurological Diseases

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Plasma p‐217tau is a minimally invasive but specific biomarker for diagnosing Alzheimer's disease (AD). However, its disease specificity remains to be clinically evaluated. We validated the reliability of the p‐217tau biomarker in 12 other neurological diseases.
Takeshi Kawarabayashi, Takumi Nakamura, Ryoma Takahashi, Tetsuya Ueda, Seiji Kinoshita, Chikage Uchida, Takashi Sugawara, Kentaro Hashimoto, Kunihiko Ishizawa, Masakuni Amari, Hiroo Kasahara, Yoshio Ikeda, Masamitsu Takatama, Mikio Shoji   +13 more
wiley   +1 more source