Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

49 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
POLR3A variants with striatal involvement and extrapyramidal movement disorder.
Harting I, Al-Saady M, Krägeloh-Mann I, Bley A, Hempel M, Bierhals T, Karch S, Moog U, Bernard G, Huntsman R, van Spaendonk RML, Vreeburg M, Rodríguez-Palmero A, Pujol A, van der Knaap MS, Pouwels PJW, Wolf NI. Harting I, et al. Among authors: bley a. Neurogenetics. 2020 Apr;21(2):121-133. doi: 10.1007/s10048-019-00602-4. Epub 2020 Jan 15. Neurogenetics. 2020. PMID: 31940116 Free PMC article.
POLR3A and POLR3B Mutations in Unclassified Hypomyelination.
Cayami FK, La Piana R, van Spaendonk RM, Nickel M, Bley A, Guerrero K, Tran LT, van der Knaap MS, Bernard G, Wolf NI. Cayami FK, et al. Among authors: bley a. Neuropediatrics. 2015 Jun;46(3):221-8. doi: 10.1055/s-0035-1550148. Epub 2015 May 8. Neuropediatrics. 2015. PMID: 26011300
Long-term Outcome of Allogeneic Hematopoietic Stem Cell Transplantation in Patients With Juvenile Metachromatic Leukodystrophy Compared With Nontransplanted Control Patients.
Groeschel S, Kühl JS, Bley AE, Kehrer C, Weschke B, Döring M, Böhringer J, Schrum J, Santer R, Kohlschütter A, Krägeloh-Mann I, Müller I. Groeschel S, et al. Among authors: bley ae. JAMA Neurol. 2016 Sep 1;73(9):1133-40. doi: 10.1001/jamaneurol.2016.2067. JAMA Neurol. 2016. PMID: 27400410
X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1.
Miyake N, Wolf NI, Cayami FK, Crawford J, Bley A, Bulas D, Conant A, Bent SJ, Gripp KW, Hahn A, Humphray S, Kimura-Ohba S, Kingsbury Z, Lajoie BR, Lal D, Micha D, Pizzino A, Sinke RJ, Sival D, Stolte-Dijkstra I, Superti-Furga A, Ulrick N, Taft RJ, Ogata T, Ozono K, Matsumoto N, Neubauer BA, Simons C, Vanderver A. Miyake N, et al. Among authors: bley a. Neurogenetics. 2017 Dec;18(4):185-194. doi: 10.1007/s10048-017-0520-x. Epub 2017 Aug 26. Neurogenetics. 2017. PMID: 28842795 Free PMC article.
Megalencephalic leukoencephalopathy with subcortical cysts: Characterization of disease variants.
Hamilton EMC, Tekturk P, Cialdella F, van Rappard DF, Wolf NI, Yalcinkaya C, Çetinçelik Ü, Rajaee A, Kariminejad A, Paprocka J, Yapici Z, Bošnjak VM, van der Knaap MS; MLC Research Group. Hamilton EMC, et al. Neurology. 2018 Apr 17;90(16):e1395-e1403. doi: 10.1212/WNL.0000000000005334. Epub 2018 Mar 21. Neurology. 2018. PMID: 29661901 Free PMC article.
Natural History of Vanishing White Matter.
Hamilton EMC, van der Lei HDW, Vermeulen G, Gerver JAM, Lourenço CM, Naidu S, Mierzewska H, Gemke RJBJ, de Vet HCW, Uitdehaag BMJ, Lissenberg-Witte BI; VWM Research Group; van der Knaap MS. Hamilton EMC, et al. Ann Neurol. 2018 Aug;84(2):274-288. doi: 10.1002/ana.25287. Epub 2018 Sep 6. Ann Neurol. 2018. PMID: 30014503 Free PMC article.
49 results