Results 191 to 200 of about 2,408,361 (302)

Scaling genomic reanalysis to unlock diagnoses and transform rare disease care. [PDF]

HGG Adv
Rockowitz S, Shao W, French C, Truong TK, Hagen J, McGonigle R, Geltzeiler A, Sheidley B, Smith L, D'Gama AM, Irons M, Chou J, Stoler J, Kritzer A, Rodan L, Shimamura A, Bodamer O, Sacharow S, Soul JS, Srivastava S, Kennedy AR, Abu-El-Haija A, Lai A, Olson H, Juusola J, Ryan E, Friedman B, Singh A, Li C, Mallik R, Strickland G, Prinzing G, Mo A, O'Donnell-Luria A, Bolton J, Boone PM, Brucker W, Duyzend M, Mahida S, Miller DT, Omorodion J, Petit J, Picker J, Poduri A, Carlston C, Wojcik MH, Sliz P, Chung WK.   +47 more
europepmc   +1 more source

Aquaporin‐4 in Narcolepsy Type 1: Investigation of Perivascular Fluid Movement in Sleep Disorders

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Narcolepsy type 1 (NT1) is caused by the loss of hypocretin‐1 leading to excessive daytime sleepiness and cataplexy. Additionally, disrupted nighttime sleep has become an increasingly recognized feature of NT1. As the glymphatic fluid movement has been linked to sleep architecture, we investigated cerebrospinal fluid (CSF) Aquaporin‐4 (AQP4 ...
Jonas Ranke, Petra Steinacker, Steffen Halbgebauer, Patrick Oeckl, Geert Mayer, Markus Otto   +5 more
wiley   +1 more source

Rare disease mimicking multisystem inflammatory syndrome in children. [PDF]

BMC Pediatr
Akar A.
europepmc   +1 more source

TrialR: critical enablers and the need for reusable Rare Disease Clinical Trial infrastructure in Western Australia. [PDF]

Orphanet J Rare Dis
MacDonald B, Burmaz M, Baker S, Stevens K, Newell A, Baynam G.   +5 more
europepmc   +1 more source

Rare Diseases [PDF]

Future Medicinal Chemistry, 2014
openaire   +1 more source

P383: Genetic counseling for clinical sequencing: Addressing variants of uncertain significance in rare disease diagnosis

Genetics in Medicine Open
Sumin Ji, Hyon Kim
doaj   +1 more source

Case Report of Andersen-Tawil Syndrome: Rare Presentation of a Rare Disease. [PDF]

Ann Indian Acad Neurol
Shakya H, Bhatnagar S, Babel P, Kushwaha S, Dhamija RK.   +4 more
europepmc   +1 more source

A Case of Cerebral Cortical Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
Sixiao Liu, Kunqian Ji, Wei Wu, Wei Li
wiley   +1 more source

Movement Disorders in Aicardi–Goutières Syndrome and Response to Immunomodulation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This study characterizes movement disorders and treatment responses in seven children with Aicardi–Goutières syndrome (AGS). We retrospectively evaluated motor phenotypes, neuroimaging, and interferon signatures in patients treated with baricitinib or anifrolumab. Spasticity affected all patients, while dystonia was present in 4/7.
Enrique Gonzalez Saez‐Diez, Monica Ferrer Socorro, Kathryn Yang, Nicole Battaglia, Zainab Zaman, Mariko Bennett, Adeline Vanderver, Pui Y. Lee, Lauren A. Henderson, Milena M. Andzelm, Darius Ebrahimi‐Fakhari   +10 more
wiley   +1 more source

KLINSE: a comprehensive service model for rare disease information and care management support. [PDF]

Orphanet J Rare Dis
Jäger K, Dannenmann-Stern E, Inbasi S, Grasshoff U, Vossler-Wolf C, Graessner H.   +5 more
europepmc   +1 more source