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Select item 65151311.

West Nile Virus infection in a renal transplant recipient resulting in polioencephalomylelitis, quadriplegia, and global brain atrophy

Kamran Kadkhoda, John M. Embil, Lundy R. McKibbin, James McEachern, Michael A. Drebot

IDCases. 2019; 17: e00551. Published online 2019 May 3. doi: 10.1016/j.idcr.2019.e00551

PMCID:: PMC6515131

Article PDF–2.5M

Select item 62582252.

Do 2-year changes in superior frontal gyrus and global brain atrophy affect cognition?

Maria del C. Valdés Hernández, Stuart Reid, Shadia Mikhael, Cyril Pernet, The Alzheimer's Disease Neuroimaging Initiative

Alzheimers Dement (Amst) 2018; 10: 706–716. Published online 2018 Aug 30. doi: 10.1016/j.dadm.2018.07.010

PMCID:: PMC6258225

Article PDF–1.3M

Select item 57180743.

Homozygous GRID2 missense mutation predicts a shift in the D-serine binding domain of GluD2 in a case with generalized brain atrophy and unusual clinical features

Zafar Ali, Shumaila Zulfiqar, Joakim Klar, Johan Wikström, Farid Ullah, Ayaz Khan, Uzma Abdullah, Shahid Baig, Niklas Dahl

BMC Med Genet. 2017; 18: 144. Published online 2017 Dec 6. doi: 10.1186/s12881-017-0504-6

PMCID:: PMC5718074

Article PDF–1.4M

Select item 30096974.

Generalized cerebral atrophy seen on MRI in a naturally exposed animal model for creutzfeldt-jakob disease

Alexia L McKnight, Lawrence A Minkoff, Diane L Sutton, Bruce V Thomsen, Perry L Habecker, Raymond W Sweeney, Gary Smith, Constantin A Dasanu, Thomas E Ichim, Doru T Alexandrescu, Joel M Stutman

J Transl Med. 2010; 8: 125. Published online 2010 Nov 26. doi: 10.1186/1479-5876-8-125

PMCID:: PMC3009697

Article PDF–603K

Select item 108880075.

Homozygous CNP Mutation and Neurodegeneration in Weimaraners: Myelin Abnormalities and Accumulation of Lipofuscin-like Inclusions

Stefan H. Keller, Gary S. Johnson, Garrett Bullock, Tendai Mhlanga-Mutangadura, Malte Schwartz, Savannah G. Pattridge, Juyuan Guo, Gregg D. Kortz, Martin L. Katz

Genes (Basel) 2024 Feb; 15(2): 246. Published online 2024 Feb 15. doi: 10.3390/genes15020246

PMCID:: PMC10888007

Article PDF–38M

Select item 108002276.

Polioencephalopathy in Eurasier dogs

Faye Rawson, Matthias Christen, Jeremy Rose, Emilie Paran, Tosso Leeb, Angela Fadda

J Vet Intern Med. 2024 Jan-Feb; 38(1): 277–284. Published online 2023 Dec 2. doi: 10.1111/jvim.16945

PMCID:: PMC10800227

Article PDF–940K

Select item 106900197.

Neurological disease in xeroderma pigmentosum: prospective cohort study of its features and progression

Hector Garcia-Moreno, Douglas R Langbehn, Adesoji Abiona, Isabel Garrood, Zofia Fleszar, Marta Antonia Manes, Ana M Susana Morley, Emma Craythorne, Shehla Mohammed, Tanya Henshaw, Sally Turner, Harsha Naik, Istvan Bodi, Robert P E Sarkany, Hiva Fassihi, Alan R Lehmann, Paola Giunti

Brain. 2023 Dec; 146(12): 5044–5059. Published online 2023 Dec 1. doi: 10.1093/brain/awad266

PMCID:: PMC10690019

Article PDF–513K

Select item 105446958.

Behavioral Variant Frontotemporal Dementia in a 23-Year-Old Man

Tania C. Ghazarian, Matthew G.H. Hall, Leslie A. Horton, Bruce L. Miller, Robert T. Rubin

Neurocase. Author manuscript; available in PMC 2024 Feb 16.

Published in final edited form as: Neurocase. 2023 Feb-Apr; 29(1): 6–13. Published online 2023 Mar 30. doi: 10.1080/13554794.2023.2191858

PMCID:: PMC10544695

Article PDF–490K

Select item 94559089.

Mutant WDR45 Leads to Altered Ferritinophagy and Ferroptosis in β-Propeller Protein-Associated Neurodegeneration

Sokhna Haissatou Diaw, Christos Ganos, Simone Zittel, Kirstin Plötze-Martin, Leonora Kulikovskaja, Melissa Vos, Ana Westenberger, Aleksandar Rakovic, Katja Lohmann, Marija Dulovic-Mahlow

Int J Mol Sci. 2022 Sep; 23(17): 9524. Published online 2022 Aug 23. doi: 10.3390/ijms23179524

PMCID:: PMC9455908

Article PDF–1.8M

Select item 911996810.

Characterization of neurological disease progression in a canine model of CLN5 neuronal ceroid lipofuscinosis

Elizabeth J. Meiman, Grace Robinson Kick, Cheryl A. Jensen, Joan R. Coates, Martin L. Katz

Dev Neurobiol. 2022 May-Jun; 82(4): 326–344. Published online 2022 Apr 28. doi: 10.1002/dneu.22878

PMCID:: PMC9119968

Article PDF–7.9M

Select item 836749011.

MR imaging of the brain in five members of a family with Pelizaeus-Merzbacher disease.

A M Silverstein, D K Hirsh, J D Trobe, S S Gebarski

AJNR Am J Neuroradiol. 1990 May; 11(3): 495-9.

PMCID:: PMC8367490

Summary PDF–2.6M

Select item 740745912.

Neuronal Ceroid Lipofuscinosis in a Domestic Cat Associated with a DNA Sequence Variant That Creates a Premature Stop Codon in CLN6

Martin L. Katz, Reuben M. Buckley, Vanessa Biegen, Dennis P. O’Brien, Gayle C. Johnson, Wesley C. Warren, Leslie A. Lyons

G3 (Bethesda) 2020 Aug; 10(8): 2741–2751. Published online 2020 Jun 9. doi: 10.1534/g3.120.401407

PMCID:: PMC7407459

Article PDF–2.7M

Select item 719575113.

Neuroimaging pattern and pathophysiology of cerebellar stroke-like lesions in MELAS with m.3243A>G mutation: a case report

Munenori Oyama, Takahiro Iizuka, Jin Nakahara, Yoshikane Izawa

BMC Neurol. 2020; 20: 167. Published online 2020 May 1. doi: 10.1186/s12883-020-01748-7

PMCID:: PMC7195751

Article PDF–2.0M

Select item 664787914.

A novel CSF-1R mutation in a family with hereditary diffuse leukoencephalopathy with axonal spheroids misdiagnosed as hydrocephalus

Miaomiao Wang, Xinqing Zhang

Neurogenetics. 2019; 20(3): 155–160. Published online 2019 May 16. doi: 10.1007/s10048-019-00579-0

PMCID:: PMC6647879

Article PDF–631K

Select item 655542115.

A mixed breed dog with neuronal ceroid lipofuscinosis is homozygous for a CLN5 nonsense mutation previously identified in Border Collies and Australian Cattle Dogs

Natalie A. Villani, Garrett Bullock, Jennifer R. Michaels, Osamu Yamato, Dennis P. O’Brien, Tendai Mhlanga-Mutangadura, Gary S. Johnson, Martin L. Katz

Mol Genet Metab. Author manuscript; available in PMC 2020 May 1.

Published in final edited form as: Mol Genet Metab. 2019 May; 127(1): 107–115. Published online 2019 Apr 17. doi: 10.1016/j.ymgme.2019.04.003

PMCID:: PMC6555421

Article PDF–3.3M

Select item 649402516.

Distinct Brain Volume Changes Correlating with Clinical Stage, Disease Progression Rate, Mutation Size, and Age at Onset Prediction as Early Biomarkers of Brain Atrophy in Huntington's Disease

Ferdinando Squitieri, Milena Cannella, Maria Simonelli, Jenny Sassone, Tiziana Martino, Eugenio Venditti, Andrea Ciammola, Claudio Colonnese, Luigi Frati, Andrea Ciarmiello

CNS Neurosci Ther. 2009 Spring; 15(1): 1–11. Published online 2009 Feb 13. doi: 10.1111/j.1755-5949.2008.00068.x

PMCID:: PMC6494025

Article PDF–1.3M

Select item 616982017.

In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis

Daniel C. Koboldt, Rama D. Kastury, Megan A. Waldrop, Benjamin J. Kelly, Theresa Mihalic Mosher, Heather McLaughlin, Don Corsmeier, Jonathan L. Slaughter, Kevin M. Flanigan, Kim L. McBride, Lakshmi Mehta, Richard K. Wilson, Peter White

Cold Spring Harb Mol Case Stud. 2018 Oct; 4(5): a003160. doi: 10.1101/mcs.a003160

PMCID:: PMC6169820

Article PDF–1.8M

Select item 588627218.

A recurrent de novo missense mutation in UBTF causes developmental neuroregression

Camilo Toro, Roderick T Hori, May Christine V Malicdan, Cynthia J Tifft, Amy Goldstein, William A Gahl, David R Adams, Harper B Fauni, Lynne A Wolfe, Jianfeng Xiao, Mohammad M Khan, Jun Tian, Kevin A Hope, Lawrence T Reiter, Michel G Tremblay, Tom Moss, Alexis L Franks, Chris Balak, C4RCD Research Group, Mark S LeDoux

Hum Mol Genet. 2018 Feb 15; 27(4): 691–705. Published online 2018 Jan 2. doi: 10.1093/hmg/ddx435