PMC Articles for MedGen (Select 1794254) - PMC

Select item 69732271.

Factors predictive of the presence of a CSF1R mutation in patients with leukoencephalopathy

Y. Kondo, A. Matsushima, S. Nagasaki, K. Nakamura, Y. Sekijima, K. Yoshida

Eur J Neurol. 2020 Feb; 27(2): 369–375. Published online 2019 Oct 15. doi: 10.1111/ene.14086

PMCID:: PMC6973227

Select item 68804942.

An AARS variant as the likely cause of Swedish type hereditary diffuse leukoencephalopathy with spheroids

Christina Sundal, Susana Carmona, Maria Yhr, Odd Almström, Maria Ljungberg, John Hardy, Carola Hedberg-Oldfors, Åsa Fred, José Brás, Anders Oldfors, Oluf Andersen, Rita Guerreiro

Acta Neuropathol Commun. 2019; 7: 188. Published online 2019 Nov 27. doi: 10.1186/s40478-019-0843-y

PMCID:: PMC6880494

Article PDF–1.5M

Select item 67473363.

Genetic Factors of Cerebral Small Vessel Disease and Their Potential Clinical Outcome

Vo Van Giau, Eva Bagyinszky, Young Chul Youn, Seong Soo A. An, Sang Yun Kim

Int J Mol Sci. 2019 Sep; 20(17): 4298. Published online 2019 Sep 3. doi: 10.3390/ijms20174298

PMCID:: PMC6747336

Article PDF–1.6M

Select item 61826924.

Identification and functional characterization of novel mutations including frameshift mutation in exon 4 of CSF1R in patients with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia

Takeshi Miura, Naomi Mezaki, Takuya Konno, Akio Iwasaki, Naoyuki Hara, Masatomo Miura, Michitaka Funayama, Yuki Unai, Yuichi Tashiro, Kenji Okita, Takeshi Kihara, Nobuo Ito, Yoichi Kanatsuka, David T. Jones, Norikazu Hara, Takanobu Ishiguro, Takayoshi Tokutake, Kensaku Kasuga, Hiroaki Nozaki, Dennis W. Dickson, Osamu Onodera, Zbigniew K. Wszolek, Takeshi Ikeuchi

J Neurol. 2018; 265(10): 2415–2424. Published online 2018 Aug 22. doi: 10.1007/s00415-018-9017-2

PMCID:: PMC6182692

Article PDF–2.4M

Select item 59379055.

Mendelian adult-onset leukodystrophy genes in Alzheimer's disease: critical influence of CSF1R and NOTCH3

Celeste Sassi, Michael A. Nalls, Perry G. Ridge, Jesse R. Gibbs, Michelle K. Lupton, Claire Troakes, Katie Lunnon, Safa Al-Sarraj, Kristelle S. Brown, Christopher Medway, Jenny Lord, James Turton, Jose Bras, ARUK Consortium, Sonja Blumenau, Mareike Thielke, Christa Josties, Dorette Freyer, Annette Dietrich, Monia Hammer, Michael Baier, Ulrich Dirnagl, Kevin Morgan, John F. Powell, John S. Kauwe, Carlos Cruchaga, Alison M. Goate, Andrew B. Singleton, Rita Guerreiro, Angela Hodges, John Hardy

Neurobiol Aging. 2018 Jun; 66: 179.e17–179.e29. doi: 10.1016/j.neurobiolaging.2018.01.015

PMCID:: PMC5937905

Article PDF–2.3M

Select item 57414686.

Diagnostic Criteria for Adult-onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia Due to CSF1R mutation

Takuya Konno, Kunihiro Yoshida, Ikuko Mizuta, Toshiki Mizuno, Toshitaka Kawarai, Masayoshi Tada, Hiroaki Nozaki, Shu-ichi Ikeda, Osamu Onodera, Zbigniew K. Wszolek, Takeshi Ikeuchi

Eur J Neurol. Author manuscript; available in PMC 2019 Jan 1.

Published in final edited form as: Eur J Neurol. 2018 Jan; 25(1): 142–147. Published online 2017 Oct 19. doi: 10.1111/ene.13464

PMCID:: PMC5741468

Article PDF–246K

Select item 48927517.

CSF1R mosaicism in a family with hereditary diffuse leukoencephalopathy with spheroids

Florian S. Eichler, Jiankang Li, Yiran Guo, Paul A. Caruso, Andrew C. Bjonnes, Jessica Pan, Jessica K. Booker, Jacqueline M. Lane, Archana Tare, Irma Vlasac, Hakon Hakonarson, James F. Gusella, Jianguo Zhang, Brendan J. Keating, Richa Saxena

Brain. 2016 Jun; 139(6): 1666–1672. Published online 2016 May 4. doi: 10.1093/brain/aww066

PMCID:: PMC4892751

Article PDF–458K

Select item 44912308.

Comprehensive diagnostics in a case of hereditary diffuse leukodystrophy with spheroids

Marie Meyer-Ohlendorf, Anne Braczynski, Omar Al-Qaisi, Florian Gessler, Saskia Biskup, Lutz Weise, Joachim P. Steinbach, Marlies Wagner, Michel Mittelbronn, Oliver Bähr

BMC Neurol. 2015; 15: 103. Published online 2015 Jul 4. doi: 10.1186/s12883-015-0368-3

PMCID:: PMC4491230

Article PDF–2.5M

Select item 44325619.

Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia Caused by a Novel R782G Mutation in CSF1R

Nicola Foulds, Reuben J. Pengelly, Simon R. Hammans, James A. R. Nicoll, David W. Ellison, Adam Ditchfield, Sarah Beck, Sarah Ennis

Sci Rep. 2015; 5: 10042. Published online 2015 May 15. doi: 10.1038/srep10042

PMCID:: PMC4432561

Article PDF–848K

Select item 428942310.

Hereditary Diffuse Leukoencephalopathy with Spheroids with Phenotype of Primary Progressive MS

Christina Sundal, Matt Baker, Virginija Karrenbauer, Marte Gustavsen, Sahl Bedri, Anna Glaser, Kjell-Morten Myhr, Kristoffer Haugarvoll, Henrik Zetterberg, Hanne Harbo, Ingrid Kockum, Jan Hillert, Zbigniew Wszolek, Rosa Rademakers, Oluf Andersen

Eur J Neurol. Author manuscript; available in PMC 2016 Feb 1.

Published in final edited form as: Eur J Neurol. 2015 Feb; 22(2): 328–333. Published online 2014 Oct 13. doi: 10.1111/ene.12572

PMCID:: PMC4289423

Article PDF–575K

Select item 393784311.

Haploinsufficiency of CSF-1R and clinicopathologic characterization in patients with HDLS

Takuya Konno, Masayoshi Tada, Mari Tada, Akihide Koyama, Hiroaki Nozaki, Yasuo Harigaya, Jin Nishimiya, Akiko Matsunaga, Nobuaki Yoshikura, Kenji Ishihara, Musashi Arakawa, Aiko Isami, Kenichi Okazaki, Hideaki Yokoo, Kyoko Itoh, Makoto Yoneda, Mitsuru Kawamura, Takashi Inuzuka, Hitoshi Takahashi, Masatoyo Nishizawa, Osamu Onodera, Akiyoshi Kakita, Takeshi Ikeuchi

Neurology. 2014 Jan 14; 82(2): 139–148. doi: 10.1212/WNL.0000000000000046

PMCID:: PMC3937843

Article PDF–1.2M

Select item 390992312.

Clinical Aspects of Familial Forms of Frontotemporal Dementia Associated with Parkinsonism

Shinsuke Fujioka, Zbigniew K. Wszolek

J Mol Neurosci. Author manuscript; available in PMC 2014 Feb 3.

Published in final edited form as: J Mol Neurosci. 2011 Nov; 45(3): 359–365. Published online 2011 Jun 8. doi: 10.1007/s12031-011-9568-5

PMCID:: PMC3909923

Article PDF–124K

Select item 380485813.

CSF1R mutations in hereditary diffuse leukoencephalopathy with spheroids are loss of function

Clare Pridans, Kristin A. Sauter, Kristin Baer, Holger Kissel, David A. Hume

Sci Rep. 2013; 3: 3013. Published online 2013 Oct 22. doi: 10.1038/srep03013

PMCID:: PMC3804858

Article PDF–569K

Select item 365320414.

CSF1R mutations link POLD and HDLS as a single disease entity

Alexandra M. Nicholson, Matt C. Baker, NiCole A. Finch, Nicola J. Rutherford, Christian Wider, Neill R. Graff-Radford, Peter T. Nelson, H. Brent Clark, Zbigniew K. Wszolek, Dennis W. Dickson, David S. Knopman, Rosa Rademakers

Neurology. 2013 Mar 12; 80(11): 1033–1040. doi: 10.1212/WNL.0b013e31828726a7

PMCID:: PMC3653204

Article PDF–633K

Select item 326784715.

Mutations in the colony stimulating factor 1 receptor (CSF1R) cause hereditary diffuse leukoencephalopathy with spheroids

Rosa Rademakers, Matt Baker, Alexandra M. Nicholson, Nicola J. Rutherford, NiCole Finch, Alexandra Soto-Ortolaza, Jennifer Lash, Christian Wider, Aleksandra Wojtas, Mariely DeJesus-Hernandez, Jennifer Adamson, Naomi Kouri, Christina Sundal, Elizabeth A. Shuster, Jan Aasly, James MacKenzie, Sigrun Roeber, Hans A. Kretzschmar, Bradley F. Boeve, David S. Knopman, Ronald C. Petersen, Nigel J. Cairns, Bernardino Ghetti, Salvatore Spina, James Garbern, Alexandros C. Tselis, Ryan Uitti, Pritam Das, Jay A. Van Gerpen, James F. Meschia, Shawn Levy, Daniel F. Broderick, Neill Graff-Radford, Owen A. Ross, Bradley B. Miller, Russell H. Swerdlow, Dennis W. Dickson, Zbigniew K. Wszolek

Nat Genet. Author manuscript; available in PMC 2012 Aug 1.

Published in final edited form as: Nat Genet. 2012 Feb; 44(2): 200–205. Published online 2011 Dec 25. doi: 10.1038/ng.1027

PMCID:: PMC3267847

Article PDF–902K

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