Results 131 to 140 of about 37,922 (217)

Longitudinal evaluation of fatigue in adult patients with spinal muscular atrophy and the impact of disease-modifying drugs. [PDF]

Arq Neuropsiquiatr
Graça FFD, Iwabe C, França MC.
europepmc   +1 more source

The Expanding Role of Gene Sequencing in Shaping Fetal Therapies: Clinical and Ethical Considerations

Prenatal Diagnosis, EarlyView.
ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear, Beltran Borges, Billie R. Lianoglou, Tony Lum, Emma Canepa, Jennifer L. Cohen, Julia E. H. Brown, Akos Herzeg   +7 more
wiley   +1 more source

Targeting Astrocytic Connexin 43 Mitigates Glutamate-Driven Motor Neuron Stress in Late-Onset Spinal Muscular Atrophy. [PDF]

Cells
Salmanian S, Schmitt LI, Liebig KC, Hezel S, Roos A, Schara-Schmidt U, Kleinschnitz C, Leo M, Hagenacker T.   +8 more
europepmc   +1 more source

Spinal Muscular Atrophy Carrier Screening: Assessment of Provider Knowledge and Clinical Practice

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective The American College of Obstetricians and Gynecologists (ACOG) recommends offering spinal muscular atrophy (SMA) carrier screening (CS) preconception or prenatally. This study aimed to determine provider knowledge of SMA and SMA CS practice patterns and to describe the relationship between knowledge and comfort while discussing ...
Melissa Riegel, Whitney Bender, Elizabeth Critchlow, Lorraine Dugoff   +3 more
wiley   +1 more source

Body Weight and Range of Motion as Predictors of Trunk Asymmetry in Children With Spinal Muscular Atrophy: A Prospective Functional Assessment. [PDF]

Med Sci Monit
Gajewska E, Bieniaszewska A, Sobieska M.
europepmc   +1 more source

Diagnostic Value of Exome Sequencing in Isolated Polyhydramnios

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the diagnostic yield of exome sequencing (ES) in isolated polyhydramnios. Methods This retrospective study included 40 cases of isolated polyhydramnios. All patients underwent screening for gestational diabetes mellitus (GDM) and chromosomal microarray analysis (CMA).
Vered Offen Glassner, Adi Botvinik, Adi Mory, Adi Reches, Karina Krajden Haratz, Britannia Morgan Fleming, Hagit Baris Feldman, Lena Sagi‐Dain, Mordechai Shohat, Rayna Joy Goldstein, Yuval Yaron, Michal Levy   +11 more
wiley   +1 more source

Moving Beyond Population-Level Analyses to Characterize Individual Heterogeneity in CMAP Responses Would Enhance the Assessment of Its Clinical Utility. [PDF]

Eur J Neurol
Zhang Y, Hu J, Pu Y, Bai X.
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

Nusinersen for spinal muscular atrophy

Therapeutic Advances in Neurological Disorders, 2018
Claudia D. Wurster, Albert C. Ludolph
doaj   +1 more source

Dynamic Muscle Ultrasound as a Non-Invasive Method to Detect Contraction Fasciculations: Case Study of a Patient With Spinal-Bulbar Muscular Atrophy. [PDF]

Muscle Nerve
Hokkoku K, Chiba T, Hatanaka Y, Kobayashi S, Sonoo M.   +4 more
europepmc   +1 more source