Results 191 to 200 of about 21,243 (259)

Improving newborn screening test performance for metachromatic leukodystrophy: Recommendation from a pre-pilot study that identified a late-infantile case for treatment

Teresa Hoi-Yee Wu, Heather A. Brown, Heather J. Church, Christopher J. Kershaw, Rebekah Hutton, Christine Egerton, James A. Cooper, Karen Tylee, Rebecca N. Cohen, David Gokhale, Dipak Ram, Georgina Morton, Michael W. Henderson, Brian Bigger, Simon Jones   +14 more
openalex   +1 more source

Leukodystrophy [PDF]

, 2019
openaire   +1 more source

Consensus-Based Expert Recommendations for Diagnosis and Clinical Management of Vanishing White Matter. [PDF]

Neurology
van Voorst RJ, Schoenmakers DH, Bonkowsky JL, Vanderver A, Krägeloh-Mann I, Bernard G, Bertini E, Fatemi A, Sgobbi PV, Wolf NI, Groeschel S, Tonduti D, Sevin C, Orthmann-Murphy JL, Schöls L, Salsano E, Brais B, Jaffe N, Ter Horst KW, Hannema SE, Hayes KG, Meyburg J, van Heerde M, Sbrocchi AM, van Spaendonk R, Thiffault I, Hofsteenge GH, Sudmeier-Broek C, Timmer C, Skwirut D, Buck A, Hollberg B, Chapleau R, Dekker H, Campbell SG, Abbink TEM, Leferink PS, van der Knaap MS.   +37 more
europepmc   +1 more source

Consensus Assay Methodology for Analysis of Sulfatides and Arylsulfatase a Enzymatic Activity in Dried Blood Spots for Newborn Screening of Metachromatic Leukodystrophy

Michael H. Gelb, Austin Shaff, Khaja Basheeruddin, Soumeya Bekri, Heather A. Brown, Heather J. Church, Justin Gianares, Xinying Hong, Simon Jones, Tate Kappell, Francyne Kubaski, Petra Oliva, Joseph J. Orsini, Tebani Abdellah, Teresa Hoi-Yee Wu, Gojko Lalić   +15 more
openalex   +1 more source

Description of the Hamburg Alexander Leukodystrophy Cohort-Insights into Practical Classification and the Care Situation. [PDF]

J Clin Med
Kokaly N, Guerreiro H, Bredow J, Dreha-Kulaczewski S, Ohlenbusch A, Köhler W, Reinhardt T, Schön G, Volk AE, Sigel H, Bley A.   +10 more
europepmc   +1 more source

"Deep Brain Stimulation of the Ventral Intermediate Nucleus of the Thalamus for Tremor in Polr3a-Related Tremor-ataxia Syndrome: A Two-case Report". [PDF]

Tremor Other Hyperkinet Mov (N Y)
Sánchez-Román EJ, Villa-Villegas L, Leal-Ortega R, Lira-Jaime LG, Rivas-Ruvalcaba F, Díaz-Ramírez K, Piña-Avilés CE, Mercado-Pimentel R, Zúñiga-Ramírez C.   +8 more
europepmc   +1 more source

Delayed Clinical and Pathological Signs in Twitcher (Globoid Cell Leukodystrophy) Mice on a C57BL/6 × CAST/Ei Background

, 2002
S. Biswas, Homigol Biesiada, Todd D. Williams, Steven M. LeVine   +3 more
openalex   +2 more sources

Myelin-water imaging and multi-shell diffusion-weighted imaging in adults with adrenoleukodystrophy. [PDF]

Brain Commun
Yska HAF, Stellingwerff MD, Roosendaal SD, Voermans MMC, van der Knaap MS, Pouwels PJW, Engelen M.   +6 more
europepmc   +1 more source

Confirmation of biallelic <i>VPS11</i> variants as a cause of complex dystonic syndrome. [PDF]

Clin Park Relat Disord
Storck A, Abiwarde MT, Hardy G, Lebre AS, Scheidecker S, Antal MC, Anheim M, Wirth T.   +7 more
europepmc   +1 more source

POLR3A rare variants in a patient with intellectual disability, ataxic gait and cortical malformations: a case-report. [PDF]

Ital J Pediatr
Florio CA, Mirabella F, Prato A, Longhitano A, Barone R, Rizzo R.   +5 more
europepmc   +1 more source