Results 161 to 170 of about 21,243 (259)

Pelizaeus-Merzbacher disease in children: A case report. [PDF]

Radiol Case Rep
Van Thuong N, The VT, Lam VD, Thinh ND, Cuong BX, Yen PTH, Loc TQ, Dung LT.   +7 more
europepmc   +1 more source

A case report of multiple system atrophy-mimics: Importance of comprehensive evaluation in suspected familial cases. [PDF]

Medicine (Baltimore)
Jeong C, Farrer M, Khurana V, Kim HJ.
europepmc   +1 more source

Clinical and laboratory profile of pediatric metachromatic leukodystrophies in a tertiary care center from Southern Part of India

, 2021
Vykuntaraju Kammasandra Gowda, Srividya G. Suryanarayana, Varunvenkat M. Srinivasan, Sanjay K. Shivappa, Naveen Benakappa, Maya Bhat, Yasha Muthane   +6 more
openalex   +1 more source

Developing a National Network for Leukodystrophy Research and Care in Canada: The CARELeuko Initiative. [PDF]

Neurol Genet
Chapleau A, Le A, Simo J, Venkateswaran S, Lacaze-Masmonteil T, Piscopo VEC, Gauthier S, Villa Tobón F, Alam SS, Lentini L, Brais B, Ernst C, Mitchell JJ, Vinh DC, Zhou Y, Kennedy TE, Goloff N, Riham B, Chapleau R, Smith B, Greger V, Della Rocca J, Louis LM, Dike A, McIntyre LL, McIntyre DF, Tardif J, Lapointe É, Barnett J, Loignon V, Bardai G, Contant S, Durcan TM, La Piana R, Bernard G, as RareKids-CAN, RARE.Qc, CARELeuko.   +37 more
europepmc   +1 more source

New roles for the major human 3\u27–5\u27 exonuclease TREX1 in human disease [PDF]

, 2008
Atkinson, John P, Kavanagh, David, Kothari, Parul H, Liszewski, M Kathryn, Richards, Anna, Shaikh, Aisha, Spitzer, Dirk   +6 more
core   +1 more source

The first report of a successful birth by preimplantation genetic testing for leukodystrophy induced by IBA57 gene

Juan Wang, Zuying Xu, Dawei Chen, Huifen Xiang   +3 more
openalex   +1 more source

Disrupting MLC1 and GlialCAM and ClC-2 interactions in leukodystrophy entails glial chloride channel dysfunction [PDF]

, 2014
Maja B. Hoegg-Beiler, Sònia Sirisi, Ian J. Orozco, Isidró Ferrer, Svea Hohensee, Muriel Auberson, Kathrin Gödde, Clara Vilches, Miguel López de Heredia, Virginia Nunes, Raúl Estévez, Thomas J. Jentsch   +11 more
openalex   +1 more source

Correction to "Self-Assembly of Accumulated Sphingolipids into Cytotoxic Fibrils in Globoid Cell Leukodystrophy and Their Inhibition by Small Molecules in Vitro". [PDF]

ACS Nano
Kumar S, Nikelshparg E, Pilátová J, Paul A, Kumar V, Koren G, Laor Bar-Yosef D, Beck R, Jensen HH, Segal D.   +9 more
europepmc   +1 more source

Leukodystrophy [PDF]

, 2020
openaire   +1 more source

SHQ1-related hypomyelinating leukodystrophy: A case report with imaging features and a homozygous variant. [PDF]

Radiol Case Rep
AlBathi A, AlMutairi A, AlDraihem A.
europepmc   +1 more source