Results 221 to 230 of about 157,517 (293)

Increase of Plasma Biomarkers in Friedreich's Ataxia: Potential Insights into Disease Pathology

Movement Disorders, EarlyView.
Abstract Background Therapeutic interventions in Friedreich's ataxia (FRDA) are progressing into clinical trials, and the need for robust and easily accessible biomarkers has arisen. Objective This study aimed to consolidate preliminary findings of changes in the levels of neurofilament light (NfL), glial fibrillary acidic protein (GFAP), Tau, and ...
Christian Rummey, Gilbert Thomas‐Black, Hector Garcia‐Moreno, David R. Lynch, Rosella Abeti, Huseyin Arisoy, Amanda Heslegrave, Henrik Zetterberg, Paola Giunti, the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS)   +9 more
wiley   +1 more source

Hypertension in Autosomal Dominant Polycystic Kidney Disease

Saudi Journal of Kidney Diseases and Transplantation, 1999
Al-Khader Abdullah
doaj  

Connectome-based predictive modeling of brain pathology and cognition in autosomal dominant Alzheimer's disease. [PDF]

Alzheimers Dement
Tripathi V, Fox-Fuller J, Malotaux V, Baena A, Felix NB, Alvarez S, Aguillon D, Lopera F, Somers DC, Quiroz YT.   +9 more
europepmc   +1 more source

Stroke Mimicking Thalamotomy in Primary Familial Brain Calcification

Movement Disorders Clinical Practice, EarlyView.
Jaakko Kungshamn, Emma Ottela, Olli Likitalo, Anna Brück, Juho Joutsa   +4 more
wiley   +1 more source

Biallelic ELOVL1 Variants Are Linked to Hypomyelinating Leukodystrophy, Movement Disorder, and Ichthyosis

Movement Disorders, EarlyView.
Abstract Background Very long chain fatty acids (VLCFAs) are an integral component of myelin and the epidermal water barrier. Variants in genes encoding enzymes responsible for catalyzing the first and rate limiting step in the production of VLCFAs, elongation of VLCFAs (ELOVLs), underlie a novel group of metabolic disorders. Objectives The goal was to
Keit Men Wong, Reza Maroofian, Kolja Meier, Susann Diegmann, Tinatin Tkemaladze, Javeria Raza Alvi, Behnoosh Tasharrofi, Stephanie Efthymiou, Alexander Munchau, G. Christoph Korenke, Naif Almontashiri, Wafaa Eyaid, Amna Kashgari, Modhi Alotaibi, Jutta Gärtner, Brenda Huppke, Mostafa Asadollahi, Gocha Chikvinidze, Mohammad Keramatipour, Tipu Sultan, Holger Thiele, Peter Nürnberg, Markus H. Gräler, Henry Houlden, Peter Huppke   +24 more
wiley   +1 more source

Autosomal Dominant Hypophosphatemic Rickets/Osteomalacia: Clinical Characterization of a Novel Renal Phosphate-Wasting Disorder

, 1997
Michael J. Econs, Paul T. McEnery
openalex   +1 more source

Hematopoietic Stem Cell Transplantation in an International Cohort of Colony Stimulating Factor‐1 Receptor (CSF1R)‐Related Disorder

Movement Disorders, EarlyView.
Abstract Background Colony stimulating factor‐1 receptor (CSF1R)‐related disorder (CSF1R‐RD) is an autosomal dominant, rapidly progressive, demyelinating disease leading to death usually within a few years. Because of the central role of CSF1R in microglia functions, allogeneic hematopoietic stem cell transplantation (HSCT) has been suggested as a ...
Hemmo A.F. Yska, Marianne Golse, Shanice Beerepoot, Stefanie Hayer, Caroline Bergner, Anderson Rodrigues Brandao de Paiva, Cecilia Marelli, Natalia Julia Palacios, Yudy Llamas Osorio, Camille Huiban, Georg Franke, Friederike Wortmann, Udo Holtick, Xavier Ayrignac, Marjo S. van der Knaap, Ludger Schöls, Vincent Perlbarg, Damien Galanaud, Moniek A. de Witte, Nicole I. Wolf, Stéphanie Nguyen, Fanny Mochel, the International CSF1R‐RD Working Group, Wolfgang Köhler, Angeles Garcia‐Cazorla, Laetitia Souchet, Boris Chaumette, Bernardo Blanco, Magali Barbier, Bruno Stankoff, Anne‐Laure Dubessy, Florence Robert‐Varvat, Audrey Riou, Sacha Weber, Benjamin Bender, Nathalie Fegueux, Patrice Ceballos, Nicolas Menjot de Champfleur, Sylvain Lehmann, Clarisse Cara‐Dallière, Pierre Labauge, Caroline Lindemans, Fernando Freua, Livia Mariano, Leandro Tavares Lucato, Gustavo Bruniera Peres Fernandes, Claudio M. de Gusmão, José Ulysses Amigo Filho, Fernando Kok, Laia Turon, Isabel Badell, Iván López Torija, Marta Gomez   +52 more
wiley   +1 more source

Peripheral Nervous System Involvement of Hereditary Transthyretin Amyloidosis in the United States: A Multi‐Center Perspective

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims Hereditary transthyretin amyloidosis (ATTRv) is an autosomal dominant multisystem disorder that occurs worldwide. The most common mutation in the United States, V142I, has previously been described as having a primarily cardiac presentation.
Urvi Desai, Hristelina S. Ilieva, James E. Eyer, Amanda C. Peltier   +3 more
wiley   +1 more source

Echocardiographic characteristics of autosomal dominant polycystic kidney disease. [PDF]

Sci Rep
Koska-Ścigała A, Jankowska H, Jankowska M, Dudziak M, Hellmann M, Dębska-Ślizień A.   +5 more
europepmc   +1 more source

Prenatal Exome Sequencing Identifies Dual Maternal‐Fetal Diagnosis of HbF Mission Bay, a Novel HBG2 Variant Associated With Methemoglobinemia, Hypoxia and Hemolytic Anemia

Prenatal Diagnosis, EarlyView.
ABSTRACT Prenatal exome sequencing (ES) can establish rare genetic diagnoses in a fetus but may also lead to occult genetic diagnosis in a biological parent. We present a case of dual fetal and maternal diagnosis by prenatal ES, in a fetus with unexplained anemia and in a pregnant patient with sickle cell disease (SCD) and recurrent unexplained hypoxia.
Matthew A. Shear, Billie Lianoglou, Ugur Hodoglugil, W. Patrick Devine, Ashutosh Lal, Juan Gonzalez, Teresa N. Sparks   +6 more
wiley   +1 more source