Results 181 to 190 of about 3,349,140 (303)

Final programme for "“A common international standard for rare materials? Why? And how?" one-day conference in Lisbon now available

, 2016
The final programme for the one-day conference “A common international standard for rare materials cataloguing? Why? And how?” at the Biblioteca Nacional de Portugal (Lisbon) has been released.
IFLA Rare Books & Special Collections Section
core  

Diffuse MRI Edema Predicts Relapse in Cerebral Amyloid Angiopathy–Related Inflammation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To identify MRI predictors of relapse and quantify relapse and mortality risk in cerebral amyloid angiopathy–related inflammation (CAA‐RI). A secondary objective was to assess the association between mycophenolate mofetil use and relapse risk. Methods We performed a retrospective cohort study of 36 patients with CAA‐RI treated at the
G. Abbas Kharal, Gowtham Yerneni, Kim J. Griffin, Nicolas Thompson, Ken Uchino, Irene Katzan, Dolora Wisco, Abeer Farrag, Jayashree Sundarajan, Andrew Russman, M. Shazam Hussain   +10 more
wiley   +1 more source

ALTERATIONS IN THE PROTEIN PROFILING OF NEURON- AND ASTROCYTE-DERIVED EXTRACELLULAR VESICLES IN RESPONSE TO HYPOXIA

IBRO Neuroscience Reports, 2023
Byung Geun Ha, Tae-Shin Park, Jung Yoon Heo, Yu-Jin Jang, Ju-Yeon Choi, Sung-Jin Jeong   +5 more
doaj   +1 more source

Improving lives optimising resources: a vision for the UK Rare Disease Strategy

, 2011
This report was developed over 18 months and over 1000 stakeholders and organisations from a wide range of backgrounds contributed to its production. We believe this to be the most comprehensive and wide-ranging review of services for patients with rare ...
Lucas, Jane S., Rare Diseaese UK
core  

Autoimmune Comorbidities as Modifiers of Phenotypic Heterogeneity in Facioscapulohumeral Dystrophy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Facioscapulohumeral dystrophy type 1 (FSHD1) shows clinical heterogeneity that is only partly explained by D4Z4 repeat unit (RU) size. Although immune and inflammatory mechanisms may contribute to disease variability, the prevalence and clinical impact of autoimmune diseases in FSHD remain unclear.
Jonathan Pini, Giulia Tammam, Andra Ezaru, Manuela Gambella, Benoît Sanson, Luisa Villa, Michele Cavalli, Mihai‐Bogdan Ioncea, Angela Puma, Sabrina Sacconi   +9 more
wiley   +1 more source

Editorial: Prevention, diagnosis and treatment of rare disorders. [PDF]

Front Pharmacol, 2022
Cox TM, Tylki-Szymańska A, Aymé S, Dooms M.   +3 more
europepmc   +1 more source

Early Clinical and Cerebrospinal Fluid Predictors of 1‐Year Recurrence in Autoimmune GFAP Astrocytopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Autoimmune glial fibrillary acidic protein astrocytopathy (GFAP‐A) is an inflammatory central nervous system disorder with variable outcomes. Relapse occurs in a subset of patients, but early predictors remain unclear. We aimed to identify admission‐available features associated with 1‐year recurrence and develop an interpretable ...
Qingting Hong, Yuping Xiao, Yuhan Wu, Ziyuan Huang, Weishan Liang, Li Xiao, Yaqing Shu, Tingting Lu, Yanyu Chang, Wei Qiu, Yuge Wang   +10 more
wiley   +1 more source

Mitigating the impact of study-start delays in clinical trials for rare disorders: insights and lessons from a PKAN trial. [PDF]

Orphanet J Rare Dis
Bracke MMG, Polet SS, Plantinga M, de Koning TJ.   +3 more
europepmc   +1 more source

A Novel KCNA1 Variant in a Patient With Tremor and Autism Spectrum Disorder Causes Mixed LOF/GOF Defects of Kv1.1 Channels

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Variants in KCNA1, encoding the Kv1.1 potassium channel, cause neurological disorders including episodic ataxia and developmental and epileptic encephalopathy. We identified a novel KCNA1 variant (A401T) in a 16‐year‐old patient with autism spectrum disorder, borderline intellectual disability, and tremor, without episodic ataxia or epilepsy ...
Juan Darío Ortigoza‐Escobar, Laura Marti‐Sánchez, Loreto Martorell, Giorgia Dinoi, Antonio Vittorio Buono, Annamaria De Luca, Antonella Liantonio, Paola Imbrici   +7 more
wiley   +1 more source

Common Genetic Variants in Rare Disorders: Hematology and Beyond. [PDF]

Curr Issues Mol Biol
Evangelidis P, Gavriilaki M, Kotsiou N, Gavriilaki E.   +3 more
europepmc   +1 more source