Results 221 to 230 of about 605,611 (288)

Immaturity of the neuromuscular junction in spinal muscular atrophy mouse models. [PDF]

Front Cell Neurosci
Tabares L, Fuentes-Moliz A, Cano R, Ruiz R, Arumugam S.   +4 more
europepmc   +1 more source

Clinical Utility of Nuchal Translucency Measurement in First‐Trimester Ultrasound Screening in a Setting With First‐Tier NIPT for Aneuploidy Screening

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To investigate the additional clinical value of nuchal translucency (NT) measurement at the first‐trimester anomaly scan (FTAS) in a setting with first‐tier non‐invasive prenatal testing (NIPT). Method This nationwide prospective cohort study, part of the IMITAS study on FTAS implementation, included all pregnancies with increased NT
Eline E. R. Lust, Kim Bronsgeest, Lidewij Henneman, Neeltje M. T. H. Crombag, Caterina M. Bilardo, Robert‐Jan H. Galjaard, Esther Sikkel, Audrey B. C. Coumans, Ayten Elvan‐Taşpınar, Sander Galjaard, Attie T. J. I. Go, Gwendolyn T. R. Manten, Eva Pajkrt, Elisabeth van Leeuwen, Monique C. Haak, Mireille N. Bekker   +15 more
wiley   +1 more source

Real-world 12-month outcomes of Risdiplam in spinal muscular atrophy types 2 and 3: A Brazilian cohort. [PDF]

Clinics (Sao Paulo)
Camelo CG, Mendonça RH, Moreno CAM, Polido GJ, Carvalho EV, Teixeira WCDS, Hayashi DS, Brito JJDC, Matsui Junior C, Zanoteli E.   +9 more
europepmc   +1 more source

Attitudes Toward Prenatal Interventions in the Fanconi Anemia Community

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective In‐utero cell and gene therapies may offer prenatal treatment options for inherited diseases. Preclinical data suggests in‐utero (IU) hematopoietic stem cell transplantation (HSCT) could prevent Fanconi anemia (FA) related bone marrow failure without genotoxic conditioning or immune suppression.
Tony Lum, Catherine Lee, Tippi MacKenzie, Billie Lianoglou, Agnieszka Czechowicz   +4 more
wiley   +1 more source

Multisystem Complications in Spinal Muscular Atrophy Type III: Chronic Respiratory Failure and Intractable Epilepsy. [PDF]

Cureus
Kaufman OR, Ahmad CM, Haberman S, King C.   +3 more
europepmc   +1 more source

Hypovitaminosis D in acute inpatient cancer rehabilitation: Prevalence, predictors, and practical implications

PM&R, EarlyView.
Abstract Background Hypovitaminosis D is associated with adverse health outcomes, including increased mortality in patients with cancer. Although vitamin D insufficiency (23%–72%) and deficiency (20%–71%) are common among patients admitted to inpatient rehabilitation, their prevalence and predictors in cancer‐specific inpatient rehabilitation ...
Jegy M. Tennison, Minxing Chen, Areeba Hafeez, Ananya Krishnan, Sefia Khan, Rony Dev, Sonal Admane, Eduardo Bruera   +7 more
wiley   +1 more source

From Genes to Function: Clinical Experience with the Effectiveness and Safety of Risdiplam and Nusinersen in Spinal Muscular Atrophy. [PDF]

Iran J Child Neurol
Sedighi P, Fayyazi A, Hosseini F, Karimi K, Esfahani H, Mahdi Hosseiny SM.   +5 more
europepmc   +1 more source

Epidemiology of Spinal Muscular Atrophy in Iceland: A Population-Based Study.

Neuroepidemiology
Mainka Sveindóttir AS, Sveinsson ÓÁ, Thors B, Elíasdóttir ÓJ.   +3 more
europepmc   +1 more source

Perioperative Management for Patients With Spinal Muscular Atrophy Undergoing Scoliosis Surgery: A Single-Center Retrospective Study. [PDF]

Orthop Surg
Hu A, Zhang X, Ma L, Lu H, Dong Y, Chen W, Huang Y, Shen J.   +7 more
europepmc   +1 more source