Results 171 to 180 of about 1,474,438 (314)

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 variants and disease [PDF]

Briefings in Functional Genomics, 2014
openaire   +2 more sources

S204: SAFETY AND TOLERABILITY OF CAEL-101, AN ANTI-AMYLOID MONOCLONAL ANTIBODY, COMBINED WITH ANTI-PLASMA CELL DYSCRASIA THERAPY IN PATIENTS WITH LIGHT-CHAIN AMYLOIDOSIS: 18-MONTH RESULTS OF A PHASE 2 STUDY

HemaSphere, 2023
Jason Valent, Michaela Liedtke, Jeffrey Zonder, Maria Angelica Molina, Chandrasekhar Udata, Juliana Ianus, John Tripptree, Julia Catini, C Cristina Quarta   +8 more
doaj   +1 more source

Developing a community-led rare disease ELSI research agenda

Background Research priorities are best defined through engagement with communities who will be impacted by the research and have lived experience of the topics to be studied. We aimed to establish a pediatric rare disease community stakeholder group and
Macy McBeth, Courtney Berrios, Zohreh Talebizadeh, Emily A. Hurley, Nikolaus Schuetz, Rare Voices Advisory Group, Annette Campbell, Jeremy R. Garrett, Tamara Falicov, Andrea Bradley-Ewing, Francisco Martinez   +10 more
core   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Mapping the rare disease stakeholders in India. [PDF]

PLOS Glob Public Health
Chakraborty Choudhury M, George JP, Srinivas PN.   +2 more
europepmc   +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

Editorial: Molecular diagnostics for cardiovascular rare disease. [PDF]

Front Mol Biosci
Bobbio E, Caiazza M, Limongelli G, Loffredo F.   +3 more
europepmc   +1 more source

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source

Detecting comorbidity patterns in rare disease patients with machine learning. [PDF]

Front Epidemiol
Connor BM, Hill C, Bai L, McKnight AJ, Jurek-Loughrey A.   +4 more
europepmc   +1 more source