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Select item 18011571.

Prospective assessment of risks for cervicomedullary-junction compression in infants with achondroplasia.

R M Pauli, V K Horton, L P Glinski, C A Reiser

Am J Hum Genet. 1995 Mar; 56(3): 732–744.

PMCID:: PMC1801157

Summary Page Browse PDF–2.4M

Select item 35319352.

Breast Cancer Presents with a Paraneoplastic Neurologic Syndrome

Pedro Coelho Barata, Joana Morgado, Ana Paula Sousa, Sónia Duarte de Oliveira, Maria Paula Custódio, Lígia Bruno da Costa, José Esteves Pena

Case Rep Oncol. 2012 Sep-Dec; 5(3): 616–621. Published online 2012 Sep 20. doi: 10.1159/000345692

PMCID:: PMC3531935

Abstract Article PDF–665K

Select item 85923093.

Pharyngeal–Cervical–Brachial Variant of Guillain–Barré Syndrome

Alberto Moscona-Nissan, Sr., Juan Carlos López-Hernández, Alec Seidman-Sorsby, Mayte Cruz-Zermeño, Andrea Navalón-Calzada

Cureus. 2021 Oct; 13(10): e18788. Published online 2021 Oct 14. doi: 10.7759/cureus.18788

PMCID:: PMC8592309

Abstract Article PDF–93K

Select item 35403084.

Long-term follow-up results of the Cloward procedure for cervical spondylotic myelopathy

Olimpio Galasso, Massimo Mariconda, Bruno Iannò, Marco De Gori, Giorgio Gasparini

Eur Spine J. 2013 Jan; 22(1): 128–134. Published online 2012 Aug 2. doi: 10.1007/s00586-012-2457-y

PMCID:: PMC3540308

Abstract Article PDF–315K

Select item 45429115.

Neurological Manifestations in Human T-Cell Lymphotropic Virus Type 1 (HTLV-1)–Infected Individuals Without HTLV-1–Associated Myelopathy/Tropical Spastic Paraparesis: A Longitudinal Cohort Study

Davi Tanajura, Néviton Castro, Paulo Oliveira, Abraão Neto, André Muniz, Natália B. Carvalho, Glória Orge, Silvane Santos, Marshall J. Glesby, Edgar M. Carvalho

Clin Infect Dis. 2015 Jul 1; 61(1): 49–56. Published online 2015 Mar 27. doi: 10.1093/cid/civ229

PMCID:: PMC4542911

Abstract Article PDF–233K

Select item 55671526.

Progressive hereditary spastic paraplegia caused by a homozygous KY mutation

Yuval Yogev, Yonatan Perez, Iris Noyman, Anwar Abu Madegem, Hagit Flusser, Zamir Shorer, Eugene Cohen, Leonid Kachko, Analia Michaelovsky, Ruth Birk, Arie Koifman, Max Drabkin, Ohad Wormser, Daniel Halperin, Rotem Kadir, Ohad S Birk

Eur J Hum Genet. 2017 Aug; 25(8): 966–972. Published online 2017 May 10. doi: 10.1038/ejhg.2017.85

PMCID:: PMC5567152

Abstract Article PDF–1.1M

Select item 10145147.

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

Summary Page Browse PDF–937K

Select item 12260888.

Identification and Expression Analysis of Spastin Gene Mutations in Hereditary Spastic Paraplegia

Ingrid K. Svenson, Allison E. Ashley-Koch, P. Craig Gaskell, Travis J. Riney, W. J. Ken Cumming, Helen M. Kingston, Edward L. Hogan, Rose-Mary N. Boustany, Jeffery M. Vance, Martha A. Nance, Margaret A. Pericak-Vance, Douglas A. Marchuk

Am J Hum Genet. 2001 May; 68(5): 1077–1085. Published online 2001 Apr 16. doi: 10.1086/320111

PMCID:: PMC1226088

Abstract Article PDF–347K

Select item 21174039.

Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency

J L K Van Hove, J Steyaert, G Matthijs, E Legius, P Theys, R Wevers, A Romstad, L B Møller, K Hedrich, D Goriounov, N Blau, C Klein, P Casaer

J Neurol Neurosurg Psychiatry. 2006 Jan; 77(1): 18–23. doi: 10.1136/jnnp.2004.051664

PMCID:: PMC2117403

Abstract Article PDF–217K

Select item 354399810.

Generation of Mice with a Conditional Allele for the p75NTR Neurotrophin Receptor Gene

Emil Bogenmann, Penny S. Thomas, Qianfeng Li, Jieun Kim, Liang-Tung Yang, Brian Pierchala, Vesa Kaartinen

Genesis. Author manuscript; available in PMC 2013 Jan 14.

Published in final edited form as: Genesis. 2011 Nov; 49(11): 862–869. Published online 2011 Aug 22. doi: 10.1002/dvg.20747

PMCID:: PMC3543998

Abstract Article PDF–3.9M

Select item 415371311.

A CACNA1C Variant Associated with Reduced Voltage-Dependent Inactivation, Increased Ca_V1.2 Channel Window Current, and Arrhythmogenesis

Jessica A. Hennessey, Nicole J. Boczek, Yong-Hui Jiang, Joelle D. Miller, William Patrick, Ryan Pfeiffer, Brittan S. Sutphin, David J. Tester, Hector Barajas-Martinez, Michael J. Ackerman, Charles Antzelevitch, Ronald Kanter, Geoffrey S. Pitt

PLoS One. 2014; 9(9): e106982. Published online 2014 Sep 3. doi: 10.1371/journal.pone.0106982

PMCID:: PMC4153713

Abstract Article PDF–881K

Select item 444210312.

A novel AARS mutation in a family with dominant myeloneuropathy

William W. Motley, Laurie B. Griffin, Inès Mademan, Jonathan Baets, Els De Vriendt, Peter De Jonghe, Anthony Antonellis, Albena Jordanova, Steven S. Scherer

Neurology. 2015 May 19; 84(20): 2040–2047. doi: 10.1212/WNL.0000000000001583

PMCID:: PMC4442103

Abstract Article PDF–839K

Select item 483183713.

Clinical and Paraclinical Indicators of Motor System Impairment in Hereditary Spastic Paraplegia: A Pilot Study

Andrea Martinuzzi, Domenico Montanaro, Marinela Vavla, Gabriella Paparella, Paolo Bonanni, Olimpia Musumeci, Erika Brighina, Hana Hlavata, Giuseppe Rossi, Gayane Aghakhanyan, Nicola Martino, Alessandra Baratto, Maria Grazia D’Angelo, Francesca Peruch, Marianna Fantin, Alessia Arnoldi, Andrea Citterio, Chiara Vantaggiato, Vincenzo Rizzo, Antonio Toscano, Nereo Bresolin, Maria Teresa Bassi

PLoS One. 2016; 11(4): e0153283. Published online 2016 Apr 14. doi: 10.1371/journal.pone.0153283

PMCID:: PMC4831837

Abstract Article PDF–1.2M

Select item 1131165614.

A Novel De Novo Missense Mutation in KIF1A Associated with Young-Onset Upper-Limb Amyotrophic Lateral Sclerosis

Emilien Bernard, Florent Cluse, Adrien Bohic, Marc Hermier, Cédric Raoul, Pascal Leblanc, Claire Guissart

Int J Mol Sci. 2024 Aug; 25(15): 8170. Published online 2024 Jul 26. doi: 10.3390/ijms25158170

PMCID:: PMC11311656

Abstract Article PDF–2.1M

Select item 639159915.

Early neurophysiological biomarkers and spinal cord pathology in inherited prion disease

Peter Rudge, Zane Jaunmuktane, Harpreet Hyare, Matthew Ellis, Martin Koltzenburg, John Collinge, Sebastian Brandner, Simon Mead

Brain. 2019 Mar; 142(3): 760–770. Published online 2019 Jan 28. doi: 10.1093/brain/awy358

Correction in:: Brain. 2019 May; 142(5): e21.

PMCID:: PMC6391599

Abstract Article PDF–914K

Select item 651864816.

An endothelial growth factor receptor compound mutation of T790M substitution with exon 19 deletion in a previously untreated patient: a case report

Juan C. Falla-Martinez, Daniela Espinosa, Juan C. Baena, Lisa X. Rodriguez, Luz F. Sua, Angela R. Zambrano

J Med Case Rep. 2019; 13: 144. Published online 2019 May 15. doi: 10.1186/s13256-019-2075-y

PMCID:: PMC6518648

Abstract Article PDF–2.7M

Select item 725189917.

A rare case of brain abscess caused by Actinomyces meyeri

Ranjit Sah, Gaurav Nepal, Sanjit Sah, Sonam Singla, Priti Upadhyay, Ali A. Rabaan, Kuldeep Dhama, Alfonso J. Rodriguez-Morales, Rabindra Ghimire

BMC Infect Dis. 2020; 20: 378. Published online 2020 May 27. doi: 10.1186/s12879-020-05100-9

PMCID:: PMC7251899

Abstract Article PDF–1.1M

Select item 754561318.

Novel CAPN1 mutations extend the phenotypic heterogeneity in combined spastic paraplegia and ataxia

Lu‐Lu Lai, Yi‐Jun Chen, Yun‐Lu Li, Xiao‐Hong Lin, Meng‐Wen Wang, En‐Lin Dong, Ning Wang, Wan‐Jin Chen, Xiang Lin

Ann Clin Transl Neurol. 2020 Oct; 7(10): 1862–1869. Published online 2020 Aug 29. doi: 10.1002/acn3.51169

PMCID:: PMC7545613

Abstract Article PDF–867K

Select item 938017919.

New phenotype of RTN2‐related spectrum: Complicated form of spastic paraplegia‐12

Wotu Tian, Haoran Zheng, Zeyu Zhu, Chao Zhang, Xinghua Luan, Li Cao

Ann Clin Transl Neurol. 2022 Aug; 9(8): 1108–1115. Published online 2022 Jun 9. doi: 10.1002/acn3.51605

PMCID:: PMC9380179

Abstract Article PDF–2.1M

Select item 1001400620.

PLP1 gene mutations cause spastic paraplegia type 2 in three families

Li Yao, Zeyu Zhu, Chao Zhang, Wotu Tian, Li Cao

Ann Clin Transl Neurol. 2023 Mar; 10(3): 328–338. Published online 2023 Jan 9. doi: 10.1002/acn3.51722

PMCID:: PMC10014006

Abstract Article PDF–1.5M

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