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Items: 1 to 20 of 37

1.
Differential corticospinal tract degeneration in homozygous ‘D90A’ SOD-1 ALS and sporadic ALS
C R V Blain, S Brunton, V C Williams, A Leemans, M R Turner, P M Andersen, M Catani, B R Stanton, J Ganesalingham, D K Jones, S C R Williams, P N Leigh, A Simmons
J Neurol Neurosurg Psychiatry. 2011 Aug; 82(8): 843–849. Published online 2011 Apr 21. doi: 10.1136/jnnp.2010.236018
PMCID:
PMC3134064
AbstractArticlePDF–400K
2.
ERLIN1 mutations cause teenage-onset slowly progressive ALS in a large Turkish pedigree
Ceren Tunca, Fulya Akçimen, Cemre Coşkun, Aslı Gündoğdu-Eken, Cemile Kocoglu, Betül Çevik, Can Ebru Bekircan-Kurt, Ersin Tan, A. Nazlı Başak
Eur J Hum Genet. 2018 May; 26(5): 745–748. Published online 2018 Feb 16. doi: 10.1038/s41431-018-0107-5
PMCID:
PMC5945623
AbstractArticlePDF–534K
3.
ATPase-deficient mitochondrial inner membrane protein ATAD3A disturbs mitochondrial dynamics in dominant hereditary spastic paraplegia
Helen M. Cooper, Yang Yang, Emil Ylikallio, Rafil Khairullin, Rosa Woldegebriel, Kai-Lan Lin, Liliya Euro, Eino Palin, Alexander Wolf, Ras Trokovic, Pirjo Isohanni, Seppo Kaakkola, Mari Auranen, Tuula Lönnqvist, Sjoerd Wanrooij, Henna Tyynismaa
Hum Mol Genet. 2017 Apr 15; 26(8): 1432–1443. Published online 2017 Jan 31. doi: 10.1093/hmg/ddx042
PMCID:
PMC5393146
AbstractArticlePDF–910K
4.
RNAseq Analyses Identify Tumor Necrosis Factor-Mediated Inflammation as a Major Abnormality in ALS Spinal Cord
David G. Brohawn, Laura C. O’Brien, James P. Bennett, Jr.
PLoS One. 2016; 11(8): e0160520. Published online 2016 Aug 3. doi: 10.1371/journal.pone.0160520
PMCID:
PMC4972368
AbstractArticlePDF–1.8M
5.
Bcl-xL Is Essential for the Survival and Function of Differentiated Neurons in the Cortex That Control Complex Behaviors
Ayumi Nakamura, Vijay Swahari, Charlotte Plestant, Ikuko Smith, Eric McCoy, Spencer Smith, Sheryl S. Moy, E. S. Anton, Mohanish Deshmukh
J Neurosci. 2016 May 18; 36(20): 5448–5461. doi: 10.1523/JNEUROSCI.4247-15.2016
PMCID:
PMC4871982
AbstractArticlePDF–8.2M
6.
Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1
Alleene V. Strickland, Maria Schabhüttl, Hans Offenbacher, Matthis Synofzik, Natalie S. Hauser, Michaela Brunner-Krainz, Ursula Gruber-Sedlmayr, Steven A. Moore, Reinhard Windhager, Benjamin Bender, Matthew Harms, Stephan Klebe, Peter Young, Marina Kennerson, Avencia Sanchez Mejias Garcia, Michael A. Gonzalez, Stephan Züchner, Rebecca Schule, Michael E. Shy, Michaela Auer-Grumbach
J Neurol. Author manuscript; available in PMC 2016 Sep 1.
Published in final edited form as: J Neurol. 2015 Sep; 262(9): 2124–2134. Published online 2015 Jun 24. doi: 10.1007/s00415-015-7727-2
PMCID:
PMC4573829
AbstractArticlePDF–714K
7.
Motor neuron involvement in multisystem proteinopathy: Implications for ALS
Michael Benatar, Joanne Wuu, Catalina Fernandez, Conrad C. Weihl, Heather Katzen, Julie Steele, Bjorn Oskarsson, J. Paul Taylor
Neurology. 2013 May 14; 80(20): 1874–1880. doi: 10.1212/WNL.0b013e3182929fc3
PMCID:
PMC3908355
AbstractArticlePDF–325K
8.
Transcriptional Abnormalities of Hamstring Muscle Contractures in Children with Cerebral Palsy
Lucas R. Smith, Henry G. Chambers, Shankar Subramaniam, Richard L. Lieber
PLoS One. 2012; 7(8): e40686. Published online 2012 Aug 16. doi: 10.1371/journal.pone.0040686
PMCID:
PMC3431909
AbstractArticlePDF–1.2M
9.
Strategy for genetic testing in Charcot-Marie-Disease
L.J. Miller, A.S.D. Saporta, S.L. Sottile, C.E. Siskind, S.M.E. Feely, M.E. Shy
Acta Myol. 2011 Oct; 30(2): 109–116.
PMCID:
PMC3235845
AbstractArticlePDF–620K
10.
TDP‐43 pathology and functional deficits in wild‐type and ALS/FTD mutant cyclin F mouse models
Annika van Hummel, Miheer Sabale, Magdalena Przybyla, Julia van der Hoven, Gabriella Chan, Astrid F. Feiten, Roger S. Chung, Lars M. Ittner, Yazi D. Ke
Neuropathol Appl Neurobiol. 2023 Apr; 49(2): e12902. Published online 2023 Apr 10. doi: 10.1111/nan.12902
PMCID:
PMC10946706
AbstractArticlePDF–6.7M
11.
White Matter Tauopathy with Globular Glial Inclusions: A Distinct Sporadic Frontotemporal Lobar Degeneration
Gabor G. Kovacs, Katalin Majtenyi, Salvatore Spina, Jill R. Murrell, Ellen Gelpi, Romana Hoftberger, Graham Fraser, R. Anthony Crowther, Michel Goedert, Herbert Budka, Bernardino Ghetti
J Neuropathol Exp Neurol. Author manuscript; available in PMC 2009 Nov 30.
Published in final edited form as: J Neuropathol Exp Neurol. 2008 Oct; 67(10): 963–975. doi: 10.1097/NEN.0b013e318187a80f
PMCID:
PMC2785030
AbstractArticlePDF–2.8M
12.
A novel 16p locus associated with BSCL2 hereditary motor neuronopathy: a genetic modifier?
Esther Brusse, Danielle Majoor-Krakauer, Bianca M. de Graaf, Gerhard H. Visser, Sigrid Swagemakers, Agnita J.W. Boon, Ben A. Oostra, Aida M. Bertoli-Avella
Neurogenetics. 2009; 10(4): 289–297. Published online 2009 Apr 24. doi: 10.1007/s10048-009-0193-1
PMCID:
PMC2758216
AbstractArticlePDF–603K
13.
Mitochondrial cytopathy. A multisystem disorder with ragged red fibres on muscle biopsy.
J Egger, B D Lake, J Wilson
Arch Dis Child. 1981 Oct; 56(10): 741–752. doi: 10.1136/adc.56.10.741
PMCID:
PMC1627326
SummaryPage BrowsePDF–2.7M
14.
Peroneal muscular atrophy with pyramidal features.
A E Harding, P K Thomas
J Neurol Neurosurg Psychiatry. 1984 Feb; 47(2): 168–172. doi: 10.1136/jnnp.47.2.168
PMCID:
PMC1027687
SummaryPage BrowsePDF–881K
15.
Hereditary "pure" spastic paraplegia: a study of nine families.
J M Polo, J Calleja, O Combarros, J Berciano
J Neurol Neurosurg Psychiatry. 1993 Feb; 56(2): 175–181. doi: 10.1136/jnnp.56.2.175
PMCID:
PMC1014818
SummaryPage BrowsePDF–1.2M
16.
Central motor conduction studies in hereditary spastic paraplegia.
W Schady, J P Dick, A Sheard, S Crampton
J Neurol Neurosurg Psychiatry. 1991 Sep; 54(9): 775–779. doi: 10.1136/jnnp.54.9.775
PMCID:
PMC1014514
SummaryPage BrowsePDF–937K
17.
Central motor and sensory conduction in X-linked recessive bulbospinal neuronopathy.
T Kachi, G Sobue, I Sobue
J Neurol Neurosurg Psychiatry. 1992 May; 55(5): 394–397. doi: 10.1136/jnnp.55.5.394
PMCID:
PMC489083
SummaryPage BrowsePDF–702K
18.
Use of Multimodal Imaging and Clinical Biomarkers in Presymptomatic Carriers of C9orf72 Repeat Expansion
Joke De Vocht, Jeroen Blommaert, Martijn Devrome, Ahmed Radwan, Donatienne Van Weehaeghe, Maxim De Schaepdryver, Jenny Ceccarini, Ahmadreza Rezaei, Georg Schramm, June van Aalst, Adriano Chiò, Marco Pagani, Daphne Stam, Hilde Van Esch, Nikita Lamaire, Marianne Verhaegen, Nathalie Mertens, Koen Poesen, Leonard H. van den Berg, Michael A. van Es, Rik Vandenberghe, Mathieu Vandenbulcke, Jan Van den Stock, Michel Koole, Patrick Dupont, Koen Van Laere, Philip Van Damme
JAMA Neurol. 2020 Aug; 77(8): 1–10. Published online 2020 May 18. doi: 10.1001/jamaneurol.2020.1087
PMCID:
PMC7417970
AbstractArticle
19.
TDP-43-M323K causes abnormal brain development and progressive cognitive and motor deficits associated with mislocalised and increased levels of TDP-43
Juan M. Godoy-Corchuelo, Zeinab Ali, Jose M. Brito Armas, Aurea B. Martins-Bach, Irene García-Toledo, Luis C. Fernández-Beltrán, Juan I. López-Carbonero, Pablo Bascuñana, Shoshana Spring, Irene Jimenez-Coca, Ramón A. Muñoz de Bustillo Alfaro, Maria J. Sánchez-Barrena, Remya R. Nair, Brian J. Nieman, Jason P. Lerch, Karla L. Miller, Hande P. Ozdinler, Elizabeth M.C. Fisher, Thomas J. Cunningham, Abraham Acevedo-Arozena, Silvia Corrochano
Neurobiol Dis. 2024 Apr; 193: 106437. doi: 10.1016/j.nbd.2024.106437
Correction in:
Neurobiol Dis. 2024 Oct 26 : 106708.
PMCID:
PMC10988218
AbstractArticlePDF–13M
20.
NOTCH2NLC mutation-positive neuronal intranuclear inclusion disease with retinal dystrophy: A case report and literature review
Takayuki Katayama, Kae Takahashi, Osamu Yahara, Jun Sawada, Ken-ichi Ishida, Asuka Asanome, Hisako Endo, Tsukasa Saito, Naoyuki Hasebe, Mari Kishibe, Harumi Kanno, Satoshi Ishiko, Jun Sone
Medicine (Baltimore) 2023 May 12; 102(19): e33789. Published online 2023 May 12. doi: 10.1097/MD.0000000000033789
PMCID:
PMC10174370
AbstractArticlePDF–839K

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