Results 221 to 230 of about 4,461,549 (298)

Female Reproductive System Neoplasms in Neotropical Primates. [PDF]

J Med Primatol
Pereira AHB, Rocha FC, Carvalho MPS, Barbosa BEP, Balthazar DA, Moreira SB, Pissinatti A, Ubiali DG.   +7 more
europepmc   +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

But not female [PDF]

Nature, 1987
openaire   +2 more sources

NOTCH2NLC Repeat Expansions in Parkinsonian Disorders: Clinical and Neuroimaging Characteristics

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disorder caused by NOTCH2NLC GGC repeat expansions, with heterogeneous clinical manifestations, including parkinsonism. Recent studies have identified NOTCH2NLC repeat expansions in patients with Parkinson's disease (PD) and atypical parkinsonism (aPM), suggesting ...
Han‐Lin Chiang, Kang‐Yang Jih, Cheng‐Tsung Hsiao, Fu‐Pang Chang, Justus Chunyu Chen, Yi‐Chu Liao, Yih‐Ru Wu, Yi‐Chung Lee   +7 more
wiley   +1 more source

Early-life RSV infection modulates innate immune events, preferentially enhancing allergen-induced type 2 lung inflammation in females. [PDF]

PLoS Pathog
Labrie L, McVea RC, Karkout R, Aldossary H, Gaudreault V, Ward BJ, Fixman ED.   +6 more
europepmc   +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

Effect of Total Body X-Ray Irradiation on the Blood of Female Single Comb White Leghorn Chickens

, 1957
Alfred M. Lucas, Effie M. Denington
openalex   +1 more source

Female Urethral Adenocarcinoma Posing a Diagnostic Challenge. [PDF]

Clin Case Rep
Darboe O, Ngowi BN, Mwasakyalo G, Mwakio C, Kamau RW, S Bashir A, David W, Irungu PJ.   +7 more
europepmc   +1 more source

Medication Use in Multiple Sclerosis: A Population‐Based Comparison With the General Danish Population

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To investigate the overall use of prescription medications among individuals with multiple sclerosis compared to the general population, with a focus on treatments beyond disease‐modifying therapies. Methods We conducted a nationwide, registry‐based study in Denmark.
Josefine Windfeld‐Mathiasen, Henrik Horwitz, Ida M. Heerfordt, Elisabeth Framke, Melinda Magyari   +4 more
wiley   +1 more source