Results 281 to 290 of about 7,960,154 (346)

Characterization of aflJ , a Gene Required for Conversion of Pathway Intermediates to Aflatoxin

, 1998
D. M. Meyers, G. R. OBrian, Wenjuan DU, Deepak Bhatnagar, Gary A. Payne   +4 more
openalex   +1 more source

BCS1L‐Associated Disease: 5′‐UTR Variant Shifts the Phenotype Towards Axonal Neuropathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives To investigate the consequences of a pathogenic missense variant (c.838C>T; p.L280F) and a 5′‐UTR regulatory variant (c.‐122G>T) in BCS1L on disease pathogenesis and to understand how regulatory variants influence disease severity and clinical presentation.
Rotem Orbach, Nunziata Maio, Russell J. Butterfield, A. Reghan Foley, Sarah Silverstein, Yan Li, Katherine Chao, Tanya J. Lehky, Abigail Potticary, Tracey A. Rouault, Sandra Donkervoort, Carsten G. Bönnemann   +11 more
wiley   +1 more source

Nucleotide sequences and regulational analysis of genes involved in conversion of aniline to catechol in Pseudomonas putida UCC22(pTDN1)

, 1997
Fumiyasu Fukumori, Christopher P. Saint
openalex   +1 more source

Remaining Burden of Spinal Muscular Atrophy Among Treated Patients: A Survey of Patients and Caregivers

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinal muscular atrophy (SMA) significantly impacts motor function. This study aimed to assess the persistent burden and unmet needs among currently treated patients with SMA and their caregivers. Methods Two complementary web‐based surveys were distributed in August 2024 among patients with SMA and their caregivers.
Julie A. Parsons, Natalie Land, Melissa Culhane Maravic, Claire Cagle, Amal Jamaleddine, Hemal Shah, Thomas Brown, Christabella Cherubino, Mouhamed Gueye   +8 more
wiley   +1 more source

Durable B‐Cell Impairment While Sparing IgA B Cells After Ocrelizumab Therapy in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Ocrelizumab (OCR), a humanized anti‐CD20 monoclonal antibody, is highly efficient in relapsing–remitting multiple sclerosis (RR‐MS). We assessed early cellular B‐cell profiles in patients prior to OCR treatment, on OCR treatment, and after 15 months of therapy discontinuation.
Alexandra Garcia, Stephane Rodriguez, Emilie Dugast, Christine Lebrun‐Frenay, Eric Thouvenot, Jérôme de Sèze, Emmanuelle Le Page, Sandra Vukusic, Inès Doghri, Eric Berger, Olivier Casez, Pierre Labauge, Aurélie Ruet, Catarina Raposo, Fabienne Le Frère, Arnaud B. Nicot, Sandrine Wiertlewski, Pierre‐Antoine Gourraud, Laure Michel, Laureline Berthelot, David‐Axel Laplaud   +20 more
wiley   +1 more source

Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We aim to describe and characterize two unrelated Spanish families suffering from an autosomal dominant autophagic vacuolar myopathy caused by repeat expansions in PLIN4. Methods We evaluated the clinical phenotype and muscle imaging, and performed a genetic workup that included exome sequencing, muscle RNAseq, and long‐read genome ...
Laura Llansó, Igor Stevanovski, Germán Morís, Roger Collet‐Vidiella, Alba Segarra‐Casas, Lidia González‐Quereda, Benjamín Rodríguez‐Santiago, Pia Gallano, Rodrigo Alvarez, Ana Vesperinas, Rosa Blanco, Beatriz San‐Millán, Carmen Navarro, Isabel Illa, Gianina Ravenscroft, Ira W. Deveson, Eduard Gallardo, Montse Olivé   +17 more
wiley   +1 more source

Central Dysmyelination in SSADH‐Deficient Humans and Mice

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Succinic semialdehyde dehydrogenase deficiency (SSADHD) is an inherited metabolic disorder characterized by an accumulation of γ‐aminobutyric (GABA). In addition to its synaptic role as an inhibitory neurotransmitter, GABA also plays an important role in myelination.
Itay Tokatly Latzer, Henry H. C. Lee, Edward Yang, Cesar Alves, Mariarita Bertoldi, Caitlyn Fung, Spencer V. Steele, Eren Kule, Zijie Jin, Alexander Rotenberg, Jean‐Baptiste Roullet, Phillip L. Pearl   +11 more
wiley   +1 more source

Single and Coincident Intragenic Mutations Attributable to Gene Conversion in a Human Cell Line

, 1997
Cynthia R. Giver, Andrew J. Grosovsky
openalex   +2 more sources

Colchicine Concentrations and Relationship With Colchicine Efficacy and Adverse Events: Post Hoc Analysis of a Randomized Clinical Trial of Colchicine for Gout Flare Prophylaxis

Arthritis Care &Research, EarlyView.
Objective Our objective was to examine the relationship between colchicine plasma concentrations and clinical and demographic factors and to determine the relationship between colchicine concentrations and colchicine efficacy and colchicine‐specific adverse events.
Lisa K. Stamp, Anne Horne, Borislav Mihov, Jill Drake, Janine Haslett, Peter Chapman, Daniel F. B. Wright, Christopher Frampton, Nicola Dalbeth   +8 more
wiley   +1 more source

Understanding Contributors of Resilience in Youth With Childhood‐Onset Systemic Lupus Erythematosus Through a Socioecological Lens: A Mixed‐Methods Study

Arthritis Care &Research, EarlyView.
Objective This study aimed to identify themes contributing to resilience in childhood‐onset systemic lupus erythematosus (cSLE), distinguish between profiles of resilience, and examine how they relate to underlying themes and patient characteristics. Methods We conducted a mixed‐methods study of 21 patients with cSLE aged 11 to 19 years at a Canadian ...
Isabella Zaffino, Louise Boulard, Joanna Law, Asha Jeyanathan, Lawrence Ng, Sandra Williams‐Reid, Kiah Reid, Angela Cortes, Eugene Cortes, Ashley Danguecan, Deborah M. Levy, Linda T. Hiraki, Andrea M. Knight   +12 more
wiley   +1 more source