Results 41 to 50 of about 57,788 (257)

Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann, Theresa Lüth, Susen Schaake, Carolin Gabbert, Marius Möller, Hauke Busch, Katja Lohmann, Jonas A. Gustafson, Danny E. Miller, Kensuke Daida, Manabu Funayama, Nobutaka Hattori, Samia Ben Sassi, Faycel Hentati, Matthew J. Farrer, Kristian K. Ullrich, Christine Klein, Joanne Trinh   +17 more
wiley   +1 more source

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

Prodromal Lewy Body Disorder Features in REM Sleep Behavior Disorder With Biomarker‐Defined Synucleinopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Isolated rapid eye movement sleep behavior disorder (iRBD) is a prodromal state for Lewy body disorders and exhibits biological heterogeneity that may influence clinical expression and progression. We examined clinical features in individuals with iRBD and biomarker‐defined synucleinopathy.
Daniel Weintraub, Michele K. York, Roseanne Dobkin, Anuprita R. Nair, Ryan Kurth, David‐Erick Lafontant, Chelsea Caspell‐Garcia, Roy N. Alcalay, Ethan G. Brown, Lana M. Chahine, Christopher Coffey, Tatiana Foroud, Douglas Galasko, Karl Kieburtz, Kenneth Marek, Kalpana Merchant, Brit Mollenhauer, Kathleen L. Poston, Andrew Siderowf, Cristina Simonet, Tanya Simuni, Caroline M. Tanner, Thomas F. Tropea, Aleksandar Videnovic, The Parkinson's Progression Markers Initiative   +24 more
wiley   +1 more source

Le roman graphique et l’Histoire : pour un récit engagé

Cahiers de Narratologie, 2014
On a pu assister ces dix dernières années au développement de la bande dessinée de reportage avec un fort ancrage autobiographique. L'analyse de la dialectique qui se met en place entre le récit factuel et le fictionnel dans quatre albums récents permet ...
Elisa Bricco
doaj   +1 more source

Compound Heterozygote Friedreich Ataxia Patients With Covert Proximal FXN Gene Deletions

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We present Friedreich ataxia patients with frataxin gene deletions. Data and records were collected at the Children's Hospital of Philadelphia from patients enrolled in the FACOMS natural history study. Patients with proximal deletions initially diagnosed with only one GAA expanded allele had more severe disease than their homozygous expansion
Michael P. Lazaropoulos, Morgan C. Devore, Christina Lam, Courtney Park, Sanjay Bidichandani, David R. Lynch   +5 more
wiley   +1 more source

Toipumistarinoita päihderiippuvuudesta - KRIS Satakunta ry:n kokemusasiantuntijoiden kokemuksia toipumisesta ja päihdehoitotyöstä [PDF]

, 2019
Tässä opinnäytetyössä tarkasteltiin päihderiippuvuudesta toipuvien ihmisten kokemuksia kuntoutumisesta ja saamistaan päihdepalveluista yksilön oman toipumistarinan kautta.
Kallava, Raija
core  

Adaptation of Impact Questions from an Existing Toolkit Provided Clear Assessment of Valued Service Elements and Desirable Service Improvements in a Primary Health Care Library and Information Service

Evidence Based Library and Information Practice, 2011
Objective – To provide an action plan for the Knowledge, Resource and Information Service (KRIS) based on an impact assessment of current services, satisfaction with current services, and views on desirable improvements to service and service delivery.
Kate Kelly
doaj   +1 more source

KAJIAN BENTUK DAN MAKNA KERIS CANTHANG BALUNG DALAM UPACARA GREBEG MULUD DI KERATON KASUNANAN SURAKARTA

Brikolase, 2020
This research discussed the form and meaning of the Canthang Balung kris in the Grebeg Mulud ceremony at the Kasunanan Palace in Surakarta. The method of this research was a descriptive qualitative research.
Jauhari Jauhari
doaj   +1 more source

MOGAD Is the Most Common Cause of Isolated Optic Neuritis in Children

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives The study aimed to characterize the clinical features, etiologies, and outcomes of isolated, first‐time pediatric ON in the post‐MOG‐IgG era. Methods This was a single‐center retrospective cohort study at Texas Children's Hospital of patients diagnosed with first‐time ON between 2018–2024, with follow‐up data collected through 2025.
Chaitanya Aduru, Akansha Chandrasekar, Kyla Blasingame, Jonathan Rosen, Jesse M. Levine, Karla Salazar, Madhuri Chilakapati, Rod Foroozan, Victoria Hardwick, Jonathan M. Yarimi, Nikita Shukla, Timothy E. Lotze, Kristen S. Fisher, Alexander J. Sandweiss   +13 more
wiley   +1 more source

SHOT DESKRIPTIF SEBAGAI ELEMENVISUAL PROGRAM DOKUMENTER KERIS : REFLEKSI BUDAYA J AWA

Capture, 2017
One of the works of art and cultural traditions of Indonesia that have a high value is Kris.Kris is a product of original culture created by the ancestors of Indonesia.Apart from being a piece of art that has a high value and full of symbolic meanings ...
S Sugito, Andry Prasetyo
doaj   +1 more source