Results 191 to 200 of about 13,061,190 (344)

Factor VIII inhibitor epitopes and an enigma [PDF]

, 2013
Gary E. Gilbert
openalex   +1 more source

Developmental, Neuroanatomical and Cellular Expression of Genes Causing Dystonia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Dystonia is one of the most common movement disorders, with variants in multiple genes identified as causative. However, an understanding of which developmental stages, brain regions, and cell types are most relevant is crucial for developing relevant disease models and therapeutics.
Darren Cameron, Nicholas E. Clifton, Daniel Cabezas de la Fuente, Peter Holmans, Nicholas J. Bray, Kathryn J. Peall   +5 more
wiley   +1 more source

Factor VIII products and inhibitor development in severe hemophilia A.

New England Journal of Medicine, 2013
S. Gouw, J. G. van der Bom, R. Ljung, C. Escuriola, A. Cid, S. Claeyssens-Donadel, C. van Geet, G. Kenet, A. Mäkipernaa, A. Molinari, W. Muntean, R. Kobelt, G. Rivard, E. Santagostino, Angela E. Thomas, H. M. van den Berg   +15 more
semanticscholar   +1 more source

The Case of a 37‐Year‐Old Woman Presenting With Subacute Weakness and Paresthesias

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Acute intermittent porphyria (AIP) is a rare metabolic disorder that may present with subacute neuropathy and systemic symptoms, often leading to diagnostic delay. We report a 37‐year‐old woman with eight weeks of progressive bilateral upper extremity weakness and paresthesias, followed by lower extremity involvement and falls, in the setting ...
Peter Pacut, Joy Cannon, Neel Dixit, Qihua Fan   +3 more
wiley   +1 more source

Bone and Hemophilia: The Role of Factor VIII-Systematic Review. [PDF]

Int J Mol Sci
Berni M, Forlino A, Caliogna L, De Felice L, Di Minno MND, Jannelli E, Mosconi M, Tonelli F, Torriani C, Pasta G.   +9 more
europepmc   +1 more source

Recombinant Factor VIII SQ—Stability of VIII: C in Homogenates from Porcine, Monkey and Human Subcutaneous Tissue [PDF]

, 2000
Angelica Fatouros, Ylva Lidén, Brita Sjöström   +2 more
openalex   +1 more source

Remote Monitoring in Myasthenia Gravis: Exploring Symptom Variability

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Myasthenia gravis (MG) is a rare, autoimmune disorder characterized by fluctuating muscle weakness and potential life‐threatening crises. While continuous specialized care is essential, access barriers often delay timely interventions. To address this, we developed MyaLink, a telemedical platform for MG patients.
Maike Stein, Maximilian Mönch, Meret Herdick, Frauke Stascheit, Sarah Hoffmann, Hannah Preßler, Philipp Mergenthaler, Carla Dusemund, Paolo Doksani, Haoqi Sun, Pushpa Narayanaswami, Andreas Meisel, Lea Gerischer, Sophie Lehnerer   +13 more
wiley   +1 more source

Chacma baboon natural anticoagulants and factor VIII activities. [PDF]

Sci Rep
van Staden QA, Muriel SM, Charmaine C, Jaco J.   +3 more
europepmc   +1 more source

Mice deficient in the anti-haemophilic coagulation factor VIII show increased von Willebrand factor plasma levels

, 2017
Klytaimnistra Kiouptsi, Alexandra Grill, Amrit Mann, Mareike Döhrmann, Maren Lillich, Sven Jäckel, Frano Malinarich, Henning Formes, Davit Manukyan, Saravanan Subramaniam, Avinash Khandagale, Cornelia Karwot, Serge C. Thal, Markus Bosmann, I. Scharrer, Kerstin Jurk, Christoph Reinhardt   +16 more
openalex   +2 more sources

Variably Protease‐Sensitive Prionopathy: Two New Cases With Motor Neuron‐Dementia Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We describe two patients with variably protease‐sensitive prionopathy (VPSPr) who developed progressive upper motor neuron symptoms, insomnia, behavioral and cognitive decline, compatible with primary lateral sclerosis associated with frontotemporal dementia (FTD).
María Elena Erro, María Victoria Zelaya, Hasier Eraña, Javier Sánchez Ruiz de Gordoa, Fermín García‐Amigot, Anika Simonovska‐Serra, María Cristina Caballero, Isidre Ferrer, Ellen Gelpi, Ivonne Jericó, Joaquín Castilla   +10 more
wiley   +1 more source