Results 81 to 90 of about 2,985,698 (230)

Serum Neurofilament Light Chain: A Marker of Nervous System Damage in Myopathies

Frontiers in Neuroscience, 2021
Purpose: Neurofilament light chain in serum (sNfL) has been suggested as a biomarker for the assessment of neuroaxonal damage. Since NfL are not expressed in muscle, elevated sNfL in patients with primary myopathies suggest additional nervous system ...
Annika Saak, Pascal Benkert, Katja Akgün, Eline Willemse, Jens Kuhle, Tjalf Ziemssen, Sandra Jackson, Jochen Schaefer   +7 more
doaj   +1 more source

Diagnosed After Birth—But Detectable Before? A Cohort Study of Prenatal Testing Potential

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the yield of prenatal genetic testing in infants with a confirmed genetic diagnosis. Methods We retrospectively reviewed records of infants with a genetic diagnosis who were evaluated using a standardized genetic consult and testing approach. The predicted yield of various prenatal genetic sceening and diagnostic tools in
Allison Schartman, Olivia Woods, Leah Wetherill, Amy M. Breman, Benjamin M. Helm, Kristen Suhrie, Kristyne Stone   +6 more
wiley   +1 more source

Pediatric feeding and swallowing rehabilitation: An overview [PDF]

, 2017
Children with neurological disabilities frequently have problems with feeding and swallowing. Such problems have a significant impact on the health and well-being of these children and their families.
Arvedson, Arvedson, Arvedson, Arvedson, Calis, Chen, Christiaanse, Cichero, Ciochon, Clark, Cooper-Brown, Craig, Dayan, Dodrill, Erasmus, Galea, Gewolb, Gisel, Gow, Granger, Harding, Harding, Humbert, Jadcherla, Jansen, Jansen, Kent, Kiliaridis, Kleim, Larnert, Lau, Law-Morstatt, Le Reverend, Lefton-Greif, Maas, Mizuno, Noll, Northstone, Ottenbacher, Pinnington, Rangarathnam, Redstone, Robbins, Ruscello, Shadmehr, Sheppard, Sjogreen, Sjogreen, Snider, Steele, Sweazey, Thelen, Thoyre, Tilton, van Bruggen, van den Engel-Hoek, van den Engel-Hoek, van den Engel-Hoek, van den Engel-Hoek, van den Engel-Hoek, van den Engel-Hoek, Wang, Wilson   +62 more
core   +11 more sources

Calcitriol increases MBNL1 expression and alleviates myotonic dystrophy phenotypes in HSALR mouse models

Journal of Translational Medicine, 2022
Background Myotonic dystrophy type 1 (DM1), one of the most common forms of adult-onset muscular dystrophy, is caused by abnormally expanded CTG repeats in the 3′ untranslated region of the DMPK gene.
Kun Huang, Dan-Dan Wang, Wen-Bao Hu, Wei-Qian Zeng, Xia Xu, Qiu-Xiang Li, Fang-Fang Bi, Huan Yang, Jian Qiu   +8 more
doaj   +1 more source

Super‐Response to Guselkumab Treatment in Patients With Moderate‐to‐Severe Psoriasis: Real‐World Data With Up to Five Years of Follow‐Up in The Czech Republic

International Journal of Dermatology, EarlyView.
Super‐response to Guselkumab. ABSTRACT Background Guselkumab, a selective interleukin (IL)‐23 inhibitor, is approved for the treatment of moderate‐to‐severe plaque psoriasis. While randomized clinical trials have introduced the concept of “super‐responders” (SRe)—patients achieving complete skin clearance (Psoriasis Area and Severity Index [PASI] 100 ...
Martina Kojanova, Daniela Pejrilova, Jorga Fialova, Petra Cetkovska, Spyridon Gkalpakiotis, Alena Machovcova, Petr Arenberger, Jiri Stork, Tomas Dolezal, Martin Tichy, the BIOREP study group, Zdenek Antal, Monika Balaz, Jirina Bartonova, Gabriela Behrami, Linda Blahova, Petr Bohac, Martin Cetkovsky, Dominika Diamantova, Magdalena Dobiasova, Olga Filipovska, Jana Foldesova, Martina Grycova, Eduard Hrnciř, Jiri Horazdovsky, Katerina Hrazdirova, Monika Hudymacova, Marie Jandova, Hana Janatova, Lucie Jaresova, Ludmila Kajtmanova, Frantisek Keznikl, Peter Kicko, Zuzana Kondasova, Sarka Kozojedova, Jiri Korda, Jana Kreisslova, Anezka Kreisslova, Silvie Krchova, Lenka Kulmanova, Natalie Kunesova, Zdenka Kysilka, Iva Lomicova, Romana Machackova, Barbora Machackova, Lukas Mericko, Miroslav Necas, Helena Nemcova, Radka Neumannova, Michaela Novakova, Jitka Osmerova, Veronika Pallova, Veronika Patavova, Lucie Petrů, Marie Policarova, Tomas Pospisil, Simona Risianova, Filip Rob, Marcela Rozkosova, Libuse Sazmova, Jaroslav Sevcik, Iva Schmidtmayerova, Martin Sicha, Kristyna Sokolova, Eliska Stankova, Jan Sternbersky, Ivana Strouhalova, David Stuchlik, Alena Stumpfova, Katerina Svarcova, Katerina Tepla, Hana Tomkova, Jana Tresnak Hercogova, Simona Vachatova, Yvetta Vantuchova, Ivana Vejrova, Iva Zampachova   +76 more
wiley   +1 more source

Geographical distribution of eight neuromuscular disorders in the Netherlands based on a nationwide registry

Rare
Neuromuscular disorders are a very heterogeneous group of diseases and comprise a large number of patients. Epidemiological key figures on incidence, prevalence and mortality serve as basic information for individualised and public health care and ...
Johanna C.W. Deenen, André L.M. Verbeek, Pieter A. van Doorn, Catharina G. Faber, Anneke J. van der Kooi, Nicolette C. Notermans, Jan J.G.M. Verschuuren, Baziel G.M. van Engelen, Nicol C. Voermans   +8 more
doaj   +1 more source

Sleep and breathing disorders in myotonic dystrophy type 2

Acta Neurologica Scandinavica, 2015
In patients who exhibit myotonic dystrophy type 1 (DM1), sleep disorders and breathing impairments are common; however, in those with DM type 2 (DM2), limited studies on polysomnography (PSG) and none on phrenic compound motor action potential (CMAP ...
L. Leonardis, R. Blagus, L. D. Grošelj
semanticscholar   +1 more source

Comparative (computational) analysis of the DNA methylation status of trinucleotide repeat expansion diseases [PDF]

, 2013
Copyright © 2013 Mohammadmersad Ghorbani et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is ...
Ghorbani, M, Payne, A, Pook, MA, Taylor, SJE   +3 more
core   +4 more sources

Narcolepsy and rapid eye movement sleep

Journal of Sleep Research, Volume 34, Issue 2, April 2025.
Summary Since the first description of narcolepsy at the end of the 19th Century, great progress has been made. The disease is nowadays distinguished as narcolepsy type 1 and type 2. In the 1960s, the discovery of rapid eye movement sleep at sleep onset led to improved understanding of core sleep‐related disease symptoms of the disease (excessive ...
Francesco Biscarini, Lucie Barateau, Fabio Pizza, Giuseppe Plazzi, Yves Dauvilliers   +4 more
wiley   +1 more source

REM behavior disorder in myotonic dystrophy type 2 [PDF]

Neurology, 2012
A 63-year-old woman with myotonic dystrophy type 2[1][1] and obstructive sleep apnea by polysomnography, not on medications traditionally known to cause REM behavior disorder (RBD), had dream-enacting behavior (DEB).
Sudhansu, Chokroverty, Sushanth, Bhat, David, Rosen, Amtul, Farheen   +3 more
openaire   +2 more sources