Results 121 to 130 of about 24,692 (277)

Unrecognized preanalytical problem with the spectrophotometric analysis of cerebrospinal fluid for xanthochromia [PDF]

, 2008
Udgivelsesdato: 2008 ...
Hansen, Annebirthe Bo, Kristensen, Susanne Tofting, Kristensen, Søren Risom, Salling, Anna Maria   +3 more
core   +1 more source

Consensus‐based follow‐up and treatment registry for GNAO1‐associated disorder

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To establish consensus‐based recommendations on relevant domains of functioning and assessment instruments for an GNAO1‐associated disorder follow‐up and treatment registry. Method This was a mixed‐methods study consisting of a systematic literature search, a survey, and a real‐time Delphi procedure to achieve consensus on domains and ...
Larissa R. Heideman, Nicole I. Wolf, Moritz Thiel, Jolanda H. Schieving, Chris De Kruiff, Suzanne van den Bos, Eva Van Heeringen‐Broekhuizen, J. Jasper Deuring, Annemieke I. Buizer, Laura A. Van De Pol   +9 more
wiley   +1 more source

POLR3-related Leukodystrophy

Journal of Clinical Imaging Science, 2019
Pol III-related leukodystrophy is a recently recognized category of leukodystrophy with characteristic clinical presentation and imaging findings. These cases are diagnosed by the combination of typical clinical presentation, brain magnetic resonance ...
Aby Thomas, Anna K. Thomas
semanticscholar   +1 more source

Performance outcomes of the PEDI‐CAT for assessing functional ability in the population with leukodystrophy

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To describe the use of the Pediatric Evaluation of Disability Index‐Computer Adapted Test (PEDI‐CAT), a parent‐reported outcome, and determine functional performance in a cohort with leukodystrophy. Method This was a cross‐sectional observational study.
Stacy V. Cusack, Allan M. Glanzman, Francesco Gavazzi, Sarah Woidill, Abbas F. Jawad, Timothy Estilow, Amy T. Waldman, Adeline Vanderver, Laura Adang, Children's Hospital of Philadelphia Leukodystrophy Workgroup, Todd Levy, Michelle Fitzgerald, Ann T. Harrington, Emma McKenzie, Elizabeth Balance, Tracy Kornafel, Kaleb Kelley, Peter Hong, Sarah Pham, Aaliyah White, Miriam Lerner   +20 more
wiley   +1 more source

Insights into the natural history of metachromatic leukodystrophy from interviews with caregivers

Orphanet Journal of Rare Diseases, 2019
Background and methodsMetachromatic leukodystrophy (MLD) is a rare, autosomal recessive lysosomal storage disease caused by deficient activity of arylsulfatase A.
Magdalena Harrington, D. Whalley, J. Twiss, R. Rushton, S. Martin, L. Huynh, Hongbo Yang   +6 more
semanticscholar   +1 more source

Inhibition of PLA2G15 Alleviates Palmitic Acid‐Induced Lysosomal Membrane Permeabilization in Human Nucleus Pulposus Cells During Intervertebral Disc Degeneration

JOR SPINE, Volume 9, Issue 2, June 2026.
LMP is responsible for lysosomal dysfunction in IDD. The lipid composition changes in the lysosomal membrane, mediated by PLA2G15, are the cause of LMP. The C/EBPα significantly promotes PLA2G15 expression under PA overload stress. Inhibition of PLA2G15 alleviates PA‐induced LMP by inhibiting the hydrolysis of lysosomal membrane phospholipids. ABSTRACT
Liqun Duan, Jiang Jiang, Shuangshuang Tu, Chuanfu Li, Yijun Dong, Yongjin Li, Wenzhi Zhang, Xi Chen   +7 more
wiley   +1 more source

Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants

Neurology: Genetics, 2019
Objective To determine the clinical, radiologic, and molecular characteristics of RNA polymerase III-related leukodystrophy (POLR3-HLD) caused by biallelic POLR1C pathogenic variants.
L. Gauquelin, F. Cayami, L. Sztriha, G. Yoon, L. Tran, K. Guerrero, F. Hocke, Rosalina M. L. van Spaendonk, E. Fung, S. D'Arrigo, G. Vasco, I. Thiffault, D. Niyazov, R. Person, K. S. Lewis, E. Wassmer, T. Prescott, P. Fallon, M. McEntagart, J. Rankin, R. Webster, H. Philippi, B. P. van de Warrenburg, D. Timmann, A. Dixit, C. Searle, N. Thakur, M. Kruer, Suvasini Sharma, A. Vanderver, D. Tonduti, M. S. van der Knaap, E. Bertini, C. Goizet, S. Fribourg, N. Wolf, G. Bernard   +36 more
semanticscholar   +1 more source

Quantitative Comparison of Multi‐Echo Spin Echo and Multi‐Echo Gradient Echo Myelin Water Imaging in a Panel of Mbp Enhancer‐Edited Mouse Lines

Magnetic Resonance in Medicine, Volume 95, Issue 6, Page 3396-3408, June 2026.
ABSTRACT Purpose To evaluate the correspondence between myelin water fraction (MWF) estimates derived from multi‐echo spin echo (MESE) and multi‐echo gradient echo (MGRE) imaging in fixed mouse brain tissue, using a panel of myelin basic protein (Mbp) enhancer‐edited mouse lines exhibiting graded hypomyelination.
Vladimir Grouza, Yawen Shi, Sean Goldfarb, Klaudia M. Bednarz, Isabella Gomez, Marius Tuznik, Zhe Wu, Hooman Bagheri, Katherine A. Siminovitch, Alan C. Peterson, Thomas Stroh, David A. Rudko   +11 more
wiley   +1 more source

Hematopoietic Stem Cell Transplantation to Treat Leukodystrophies: Clinical Practice Guidelines from the Hunter's Hope Leukodystrophy Care Network.

Biology of Blood and Marrow Transplantation, 2019
The leukodystrophies are a heterogeneous group of inherited diseases characterized by progressive demyelination of the central nervous system leading to devastating neurologic symptoms and premature death.
K. Page, Elizabeth Stenger, J. Connelly, David C. Shyr, T. West, S. Wood, L. Case, M. G. D. Kester, S. Shim, L. Hammond, M. Hammond, Christin Webb, A. Biffi, B. Bambach, A. Fatemi, J. Kurtzberg   +15 more
semanticscholar   +1 more source

Assessment of Optimal T1/T2‐Weighted Combinations for Myelin Sensitivity: Effects of Echo Time and Exponents

Magnetic Resonance in Medicine, Volume 95, Issue 6, Page 3176-3186, June 2026.
ABSTRACT Purpose The aim of this study is to improve the traditional T1‐weighted (T1w) over T2‐weighted (T2w) ratio as a proxy for myelin by investigating the optimal T2w TE and combination of exponent‐weighted T1w and T2w images (T1wx1/T2wx2). Methods T1w and T2w Gradient And Spin Echo (GRASE) data were acquired from 14 volunteers, 6 of whom had a ...
Simone Monachino, Gerhard S. Drenthen, Lis J. M. van den Boogaard, Marcel Breeuwer, Catarina Dinis Fernandes, Oliver H. H. Gerlach, Svitlana Zinger, Jacobus F. A. Jansen   +7 more
wiley   +1 more source