PMC Articles for MedGen (Select 343328) - PMC

Select item 83711491.

Trigeminal neuralgia caused by Dandy-walker malformation: A case report and systematic review of the literature

Juna Musa, Masum Rahman, Angela Guy, Ilir Ahmetgjekaj, Ali Guy, Ina Kola, Abu Bakar Siddik, Alireza Shoushtarizadaeh, Kristi Saliaj, Guri Hyseni, Fjolla Hyseni

Radiol Case Rep. 2021 Oct; 16(10): 3084–3089. Published online 2021 Aug 13. doi: 10.1016/j.radcr.2021.07.049

PMCID:: PMC8371149

Abstract Article PDF–993K

Select item 109945332.

Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders

Rauan Kaiyrzhanov, Aboulfazl Rad, Sheng-Jia Lin, Aida Bertoli-Avella, Wouter W Kallemeijn, Annie Godwin, Maha S Zaki, Kevin Huang, Tracy Lau, Cassidy Petree, Stephanie Efthymiou, Ehsan Ghayoor Karimiani, Maja Hempel, Elizabeth A Normand, Sabine Rudnik-Schöneborn, Ulrich A Schatz, Marc P Baggelaar, Muhammad Ilyas, Tipu Sultan, Javeria Raza Alvi, Manizha Ganieva, Ben Fowler, Ruxandra Aanicai, Gulsen Akay Tayfun, Abdulaziz Al Saman, Abdulrahman Alswaid, Nafise Amiri, Nilufar Asilova, Vorasuk Shotelersuk, Patra Yeetong, Matloob Azam, Meisam Babaei, Gholamreza Bahrami Monajemi, Pouria Mohammadi, Saeed Samie, Selina Husna Banu, Jorge Pinto Basto, Fanny Kortüm, Mislen Bauer, Peter Bauer, Christian Beetz, Masoud Garshasbi, Awatif Hameed Issa, Wafaa Eyaid, Hind Ahmed, Narges Hashemi, Kazem Hassanpour, Isabella Herman, Sherozjon Ibrohimov, Ban A Abdul-Majeed, Maria Imdad, Maksudjon Isrofilov, Qassem Kaiyal, Suliman Khan, Brian Kirmse, Janet Koster, Charles Marques Lourenço, Tadahiro Mitani, Oana Moldovan, David Murphy, Maryam Najafi, Davut Pehlivan, Maria Eugenia Rocha, Vincenzo Salpietro, Miriam Schmidts, Adel Shalata, Mohammad Mahroum, Jawabreh Kassem Talbeya, Robert W Taylor, Dayana Vazquez, Annalisa Vetro, Hans R Waterham, Mashaya Zaman, Tina A Schrader, Wendy K Chung, Renzo Guerrini, James R Lupski, Joseph Gleeson, Mohnish Suri, Yalda Jamshidi, Kailash P Bhatia, Barbara Vona, Michael Schrader, Mariasavina Severino, Matthew Guille, Edward W Tate, Gaurav K Varshney, Henry Houlden, Reza Maroofian

Brain. 2024 Apr; 147(4): 1436–1456. Published online 2023 Nov 10. doi: 10.1093/brain/awad380

PMCID:: PMC10994533

Abstract Article PDF–2.1M

Select item 83373653.

Congenital ocular motor apraxia: imaging findings.

M A Sargent, K J Poskitt, J E Jan

AJNR Am J Neuroradiol. 1997 Nov-Dec; 18(10): 1915-22.

PMCID:: PMC8337365

Summary PDF–565K

Select item 70285104.

Novel variants in CDH2 are associated with a new syndrome including Peters anomaly

Linda M. Reis, Nathalie S. Houssin, Carlos Zamora, Omar Abdul-Rahman, Jennifer M Kalish, Elaine H. Zackai, Timothy F. Plageman, Jr., Elena V. Semina

Clin Genet. Author manuscript; available in PMC 2021 Mar 1.

Published in final edited form as: Clin Genet. 2020 Mar; 97(3): 502–508. Published online 2019 Nov 10. doi: 10.1111/cge.13660

PMCID:: PMC7028510

Abstract Article PDF–852K

Select item 41408025.

Cerebellar Integrity in the Amyotrophic Lateral Sclerosis - Frontotemporal Dementia Continuum

Rachel H. Tan, Emma Devenney, Carol Dobson-Stone, John B. Kwok, John R. Hodges, Matthew C. Kiernan, Glenda M. Halliday, Michael Hornberger

PLoS One. 2014; 9(8): e105632. Published online 2014 Aug 21. doi: 10.1371/journal.pone.0105632

PMCID:: PMC4140802

Abstract Article PDF–2.4M

Select item 40625326.

Whole Brain Expression of Bipolar Disorder Associated Genes: Structural and Genetic Analyses

Michael J. McCarthy, Sherri Liang, Andrea D. Spadoni, John R. Kelsoe, Alan N. Simmons

PLoS One. 2014; 9(6): e100204. Published online 2014 Jun 18. doi: 10.1371/journal.pone.0100204

PMCID:: PMC4062532

Abstract Article PDF–9.2M

Select item 30448317.

A voxel-based morphometry study of grey matter loss in fragile X-associated tremor/ataxia syndrome

Ryu-ichiro Hashimoto, Alireza K. Javan, Flora Tassone, Randi J. Hagerman, Susan M. Rivera

Brain. 2011 Mar; 134(3): 863–878. Published online 2011 Feb 22. doi: 10.1093/brain/awq368

PMCID:: PMC3044831

Abstract Article PDF–1003K

Select item 29313608.

MOLECULAR AND NEUROIMAGING FINDINGS IN PONTOCEREBELLAR HYPOPLASIA TYPE 2 (PCH2): IS PRENATAL DIAGNOSIS POSSIBLE?

John M. Graham, Jr., Andrew H. Spencer, Inessa Grinberg, Charles E. Niesen, Lawrence D. Platt, Marcel Maya, Yasmin Namavar, Frank Baas, William B. Dobyns

Am J Med Genet A. Author manuscript; available in PMC 2011 Sep 1.

Published in final edited form as: Am J Med Genet A. 2010 Sep; 152A(9): 2268–2276. doi: 10.1002/ajmg.a.33579

PMCID:: PMC2931360

Abstract Article PDF–1.4M

Select item 28499799.

Mutations in VLDLR as a Cause for Autosomal Recessive Cerebellar Ataxia with Mental Retardation (Dysequilibrium Syndrome)

Kym M Boycott, Carsten Bonnemann, Joachim Herz, Stephanie Neuert, Chandree Beaulieu, James N Scott, Anuradha Venkatasubramanian, Jillian S Parboosingh

J Child Neurol. Author manuscript; available in PMC 2010 Apr 6.

Published in final edited form as: J Child Neurol. 2009 Oct; 24(10): 1310–1315. Published online 2009 Mar 30. doi: 10.1177/0883073809332696

PMCID:: PMC2849979

Abstract Article PDF–459K

Select item 282068310.

Microcephaly, sensorineural deafness and Currarino triad with duplication–deletion of distal 7q

Piero Pavone, Martino Ruggieri, Ilaria Lombardo, Jyotsna Sudi, Roberta Biancheri, Danilo Castellano-Chiodo, Andrea Rossi, Gemma Incorpora, Norma J. Nowak, Susan L. Christian, Lorenzo Pavone, William B. Dobyns

Eur J Pediatr. 2010; 169(4): 475–481. Published online 2009 Oct 17. doi: 10.1007/s00431-009-1061-6

PMCID:: PMC2820683

Abstract Article PDF–203K

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