Results 141 to 150 of about 113,403 (172)

Validity and Reliability of Clinical and Patient‐Reported Outcomes in Multisystem Proteinopathy 1

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Valosin‐containing protein (VCP)‐associated multisystem proteinopathy 1 (MSP1) is caused by variants in the VCP gene. MSP1 results in various phenotypes including progressive myopathy, Paget's disease of bone, frontotemporal dementia, amyotrophic lateral sclerosis, and parkinsonism, among others.
Lindsay N. Alfano, Megan A. Iammarino, Natalie F. Reash, Linda P. Lowes, Lindsay Pietruszewski, Kathleen Adderley, Lauren Humphrey, Audrey B. Knight, Christopher L. Steiner, Melissa A. Smith, Zarife Sahenk, Anne M. Connolly, Momen Almomen, Eleonora S. D'Ambrosio, Nathan Peck, Allison Peck   +15 more
wiley   +1 more source

Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT MRPS14 (uS14m) is a nuclear‐encoded ribosomal protein important for mitochondria‐specific translation. To date, only a single individual with a recessive MRPS14‐related disorder (also known as COXPD38) has been reported. We report an additional subject possessing novel compound heterozygous MRPS14 variants (p.Asp37Asn, p.Asn60Asp). The subject
Maria Gabriela Otero, Christina Freeman, Ruchi Shah, Renkui Bai, Hong Cui, Marian Castro, Zachary Myers, Eric Choy, Derek Chan, Molly Easter, Sophia Y. Zhao, Madeline Babros, Ruchi Garg, Matthew Deardorff, Franklin Moser, Tyler Mark Pierson   +15 more
wiley   +1 more source

Myostatin Levels in SMA Following Disease‐Modifying Treatments: A Multi‐Center Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective This study investigated myostatin levels in SMA patients receiving disease‐modifying therapies (DMTs) to understand their relationship with treatment duration and functional status. Methods Our study includes both cross‐sectional and longitudinal analyses of myostatin levels in treated SMA patients.
Fiorella Piemonte, Sara Petrillo, Anna Capasso, Giorgia Coratti, Adele D'Amico, Michela Catteruccia, Maria Carmela Pera, Concetta Palermo, Marika Pane, Emanuela Abiusi, Gianpaolo Cicala, Marianna Villa, Chiara Bravetti, Chiara Arpaia, Agnese Novelli, Salvatore Falqui, Stefania Fiori, Giulia Napoli, Silvia Baroni, Francesco Danilo Tiziano, Enrico Bertini, Giacomo Comi, Stefania Corti, Eugenio Mercuri   +23 more
wiley   +1 more source

The Impact of Diabetes and Metabolic Syndrome Burden on Pain, Neuropathy Severity and Fiber Type

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Determine the association between diabetes and metabolic syndrome (MetS) burden (number of MetS criteria fulfilled) and pain, neuropathy severity, and fiber type involvement in individuals with established polyneuropathy. Methods The Peripheral Neuropathy Research Registry was queried for individuals with type 1 and type 2 diabetes ...
Long Davalos, Brian C. Callaghan, Lavanya Muthukumar, Simone Thomas, Evan L. Reynolds, A. Gordon Smith, J. Robinson Singleton, Ahmet Höke, Senda Ajroud‐Driss, Mazen M. Dimachkie, Stefanie Geisler, David M. Simpson, PNRR Study Group, Amro M. Stino   +13 more
wiley   +1 more source

Reply to Letter: Real‐World Clinical Experience With Serum MOG and AQP4 Antibody Testing by Live Versus Fixed Cell‐Based Assay

Annals of Clinical and Translational Neurology, EarlyView.
Yana Said, Conlan Tran, LuAnn Rezavi, Patrizio Caturegli, Eoin P. Flanagan, Elias S. Sotirchos   +5 more
wiley   +1 more source

Corrigendum to “Clinical Phenotyping of Long COVID Patients Evaluated in a Specialized Neuro‐COVID Clinic”

Annals of Clinical and Translational Neurology, EarlyView.
wiley   +1 more source

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Phenotypes

2023
Little progress has been made in the identification of novel pharmacological therapies for critically ill patients with sepsis, acute kidney injury, and acute respiratory distress syndrome. This lack of progress can likely be explained in part by inherent heterogeneity in the critically ill population, including but not limited to the dynamic state of ...
Heijnen, Nanon F. L., Calfee, Carolyn S., Bos, Lieuwe D. J.   +2 more
openaire   +2 more sources

When is a Behavioural Phenotype Not a Phenotype?

Developmental Medicine & Child Neurology, 1994
No ...
Einfeld, Stewart L., Hall, Wayne
openaire   +4 more sources

Phenotype spaces [PDF]

Journal of Mathematical Biology, 2009
The topological viewpoint on spaces of phenotypes presented in Stadler et al. (J Theor Biol 213:241-274, 2001) is revisited, and a quantified version is proposed. While necessary probabilistic information can be encoded in a topological- like fashion, it turns out that it is not reflected adequately by the concept of continuity.
Mynard, Frédéric D., Seal, Gavin J.   +1 more
openaire   +3 more sources

Genetically altered mice: phenotypes, no phenotypes, and Faux phenotypes [PDF]

Genetica, 2004
'Phenotype' means different things, but whatever the measure, phenotype can be profoundly influenced by genetic, environmental and infectious variables. The laboratory mouse is a complex multisystemic organism which, despite its genetically inbred nature, as highly variable pathophysiologic characteristics. Mouse strains have background characteristics
openaire   +2 more sources