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Items: 1 to 20 of 244

1.
Combined ocular and cervical vestibular evoked myogenic potential in individuals with vestibular hyporeflexia and in patients with Ménière's disease
Tatiana Rocha Silva, Luciana Macedo de Resende, Marco Aurélio Rocha Santos
Braz J Otorhinolaryngol. 2017 May-Jun; 83(3): 330–340. Published online 2016 May 31. doi: 10.1016/j.bjorl.2016.04.017
PMCID:
PMC9444740
AbstractArticlePDF–670K
2.
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
AbstractArticlePDF–513K
3.
Novel Genetic and Phenotypic Expansion in GOSR2-Related Progressive Myoclonus Epilepsy
Lea Hentrich, Mered Parnes, Timothy Edward Lotze, Rohini Coorg, Tom J. de Koning, Kha M. Nguyen, Calvin K. Yip, Heinz Jungbluth, Anne Koy, Hormos Salimi Dafsari
Genes (Basel) 2023 Oct; 14(10): 1860. Published online 2023 Sep 25. doi: 10.3390/genes14101860
PMCID:
PMC10606070
AbstractArticlePDF–4.4M
4.
Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder
Gianluca D’Onofrio, Andrea Accogli, Mariasavina Severino, Haluk Caliskan, Tomislav Kokotović, Antonela Blazekovic, Kristina Gotovac Jercic, Silvana Markovic, Tamara Zigman, Krnjak Goran, Nina Barišić, Vlasta Duranovic, Ana Ban, Fran Borovecki, Danijela Petković Ramadža, Ivo Barić, Walid Fazeli, Peter Herkenrath, Carla Marini, Roberta Vittorini, Vykuntaraju Gowda, Arjan Bouman, Clarissa Rocca, Issam Azmi Alkhawaja, Bibi Nazia Murtaza, Malik Mujaddad Ur Rehman, Chadi Al Alam, Gisele Nader, Maria Margherita Mancardi, Thea Giacomini, Siddharth Srivastava, Javeria Raza Alvi, Hoda Tomoum, Sara Matricardi, Michele Iacomino, Antonella Riva, Marcello Scala, Francesca Madia, Angela Pistorio, Vincenzo Salpietro, Carlo Minetti, Jean-Baptiste Rivière, Myriam Srour, Stephanie Efthymiou, Reza Maroofian, Henry Houlden, Sonja Catherine Vernes, Federico Zara, Pasquale Striano, Vanja Nagy
Hum Genet. 2023; 142(7): 909–925. Published online 2023 May 14. doi: 10.1007/s00439-023-02552-2
PMCID:
PMC10329570
AbstractArticlePDF–1.6M
5.
Expanding the genetic spectrum of giant axonal neuropathy: Two novel variants in Iranian families
Mahmoud Reza Ashrafi, Ali Zare Dehnavi, Ali Reza Tavasoli, Morteza Heidari, Masoud Ghahvechi Akbari, Ali Reza Ronagh, Mohammad Ghafouri, Nejat Mahdieh, Pouria Mohammadi, Zahra Rezaei
Mol Genet Genomic Med. 2023 Jun; 11(6): e2159. Published online 2023 Mar 3. doi: 10.1002/mgg3.2159
PMCID:
PMC10265088
AbstractArticlePDF–7.3M
6.
A syndrome of severe intellectual disability, hypotonia, failure to thrive, dysmorphism, and thinning of corpus callosum maps to chromosome 7q21.13‐q21.3
Daniel Halperin, Nadav Agam, Maher Hallak, Miora Feinstein, Max Drabkin, Yuval Yogev, Ohad Wormser, Eitan Shavit, Libe Gradstein, Ilan Shelef, Aanalia Mijalovsky, Hagit Flusser, Ohad S. Birk
Clin Genet. 2022 Aug; 102(2): 123–129. Published online 2022 May 5. doi: 10.1111/cge.14143
PMCID:
PMC9545274
AbstractArticlePDF–1.4M
7.
De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism
Maria J. Guillen Sacoto, Iva A. Tchasovnikarova, Erin Torti, Cara Forster, E. Hallie Andrew, Irina Anselm, Kristin W. Baranano, Lauren C. Briere, Julie S. Cohen, William J. Craigen, Cheryl Cytrynbaum, Nina Ekhilevitch, Matthew J. Elrick, Ali Fatemi, Jamie L. Fraser, Renata C. Gallagher, Andrea Guerin, Devon Haynes, Frances A. High, Cara N. Inglese, Courtney Kiss, Mary Kay Koenig, Joel Krier, Kristin Lindstrom, Michael Marble, Hannah Meddaugh, Ellen S. Moran, Chantal F. Morel, Weiyi Mu, Eric A. Muller, II, Jessica Nance, Marvin R. Natowicz, Adam L. Numis, Bridget Ostrem, John Pappas, Carl E. Stafstrom, Haley Streff, David A. Sweetser, Marta Szybowska, Undiagnosed Diseases Network, Melissa A. Walker, Wei Wang, Karin Weiss, Rosanna Weksberg, Patricia G. Wheeler, Grace Yoon, Robert E. Kingston, Jane Juusola
Am J Hum Genet. 2020 Aug 6; 107(2): 352–363. Published online 2020 Jul 20. doi: 10.1016/j.ajhg.2020.06.013
PMCID:
PMC7413887
AbstractArticlePDF–1.1M
8.
Prominent Spasticity and Hyperreflexia of the Legs in a Nepalese Patient with Friedreich Ataxia
Hiroya Naruse, Yuji Takahashi, Hiroyuki Ishiura, Takashi Matsukawa, Jun Mitsui, Yaeko Ichikawa, Masashi Hamada, Jun Shimizu, Jun Goto, Tatsushi Toda, Shoji Tsuji
Intern Med. 2019 Oct 1; 58(19): 2865–2869. Published online 2019 Jun 7. doi: 10.2169/internalmedicine.2953-19
PMCID:
PMC6815894
AbstractArticlePDF–1.1M
9.
A novel compound heterozygous mutation in VARS2 in a newborn with mitochondrial cardiomyopathy: a case report of a Chinese family
Keze Ma, Mingyu Xie, Xiaoguang He, Guojun Liu, Xiaomei Lu, Qi Peng, Baimao Zhong, Ning Li
BMC Med Genet. 2018; 19: 202. Published online 2018 Nov 20. doi: 10.1186/s12881-018-0689-3
PMCID:
PMC6247698
AbstractArticlePDF–1.7M
10.
Novel mosaic mutation in the dystrophin gene causing distal asymmetric muscle weakness of the upper limbs and dilated cardiomyopathy
Joana Ribeiro, Olinda Rebelo, Ana Fernández-Marmiesse, Luís Negrão
Acta Myol. 2018 Jun; 37(2): 117–120. Published online 2018 Jun 1.
PMCID:
PMC6060426
AbstractArticlePDF–221K
11.
X-linked spinal and bulbar muscular atrophy (Kennedy’s disease): the first case described in the Brazilian Amazon
Camila Nascimento Alves, Tiago Kiyoshi Kitabayashi Braga, Danusa Neves Somensi, Bruno Sérgio Vilhena do Nascimento, José Antônio Santos de Lima, Satomi Fujihara
Einstein (Sao Paulo) 2018; 16(2): eRC4011. Published online 2018 May 25. doi: 10.1590/S1679-45082018RC4011
PMCID:
PMC5995545
AbstractArticlePDF–385K
12.
Bi-allelic inactivating variants in the COCH gene cause autosomal recessive prelingual hearing impairment
Sebastien P. F. JanssensdeVarebeke, Guy Van Camp, Nils Peeters, Ellen Elinck, Josine Widdershoven, Tony Cox, Kristof Deben, Katrien Ketelslagers, Tom Crins, Wim Wuyts
Eur J Hum Genet. 2018 Apr; 26(4): 587–591. Published online 2018 Feb 15. doi: 10.1038/s41431-017-0066-2
PMCID:
PMC5891501
AbstractArticlePDF–500K
13.
Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features
Hiroyuki Morino, Sarah B. Pierce, Yukiko Matsuda, Tom Walsh, Ryosuke Ohsawa, Marta Newby, Keiko Hiraki-Kamon, Masahito Kuramochi, Ming K. Lee, Rachel E. Klevit, Alan Martin, Hirofumi Maruyama, Mary-Claire King, Hideshi Kawakami
Neurology. 2014 Nov 25; 83(22): 2054–2061. doi: 10.1212/WNL.0000000000001036
PMCID:
PMC4248451
AbstractArticlePDF–834K
14.
Similar phenotypes caused by mutations in OTOG and OTOGL
Anne M.M. Oonk, Joop M. Leijendeckers, Patrick L.M. Huygen, Margit Schraders, Miguel del Campo, Ignacio del Castillo, Mustafa Tekin, Ilse Feenstra, Andy J. Beynon, Henricus P.M. Kunst, Ad F.M. Snik, Hannie Kremer, Ronald J.C. Admiraal, Ronald J.E. Pennings
Ear Hear. Author manuscript; available in PMC 2015 May 1.
Published in final edited form as: Ear Hear. 2014 May-Jun; 35(3): e84–e91. doi: 10.1097/AUD.0000000000000008
PMCID:
PMC3999258
AbstractArticlePDF–869K
15.
A Novel Pathogenic DNA Variation in the OCRL1 Gene in Lowe Syndrome
Enver Şimşek, Tülay Şimşek, Yıldız Dallar, Önder Can, Patrick J Willems
J Clin Res Pediatr Endocrinol. 2011 Mar; 3(1): 29–31. Published online 2011 Feb 23. doi: 10.4274/jcrpe.v3i1.06
PMCID:
PMC3065313
AbstractArticlePDF–307K
16.
Spinocerebellar ataxia type 2 in seven Korean families: CAG trinucleotide expansion and clinical characteristics.
J. M. Kim, S. Shin, J. Y. Kim, S. I. Joo, S. S. Park, J. W. Kim, B. S. Jeon
J Korean Med Sci. 1999 Dec; 14(6): 659–664. doi: 10.3346/jkms.1999.14.6.659
PMCID:
PMC3054439
SummaryPDF–809K
17.
Regulated and aberrant glycosylation modulate cardiac electrical signaling
Marty L. Montpetit, Patrick J. Stocker, Tara A. Schwetz, Jean M. Harper, Sarah A. Norring, Lana Schaffer, Simon J. North, Jihye Jang-Lee, Timothy Gilmartin, Steven R. Head, Stuart M. Haslam, Anne Dell, Jamey D. Marth, Eric S. Bennett
Proc Natl Acad Sci U S A. 2009 Sep 22; 106(38): 16517–16522. Published online 2009 Aug 7. doi: 10.1073/pnas.0905414106
PMCID:
PMC2752533
AbstractArticlePDF–955K
18.
Peripheral neuropathy in metachromatic leucodystrophy. A study of 40 cases from south India
P Bindu, A Mahadevan, A Taly, R Christopher, N Gayathri, S Shankar
J Neurol Neurosurg Psychiatry. 2005 Dec; 76(12): 1698–1701. doi: 10.1136/jnnp.2005.063776
PMCID:
PMC1739439
SummaryPDF–238K
19.
Six novel connexin32 (GJB1) mutations in X-linked Charcot-Marie-Tooth disease
M Lee, I Nelson, H Houlden, M Sweeney, D Hilton-Jones, J Blake, N Wood, M Reilly
J Neurol Neurosurg Psychiatry. 2002 Sep; 73(3): 304–306. doi: 10.1136/jnnp.73.3.304
PMCID:
PMC1738041
SummaryPDF–96K
20.
Evidence for linkage of Charcot-Marie-Tooth neuropathy to the Duffy locus on chromosome 1.
T D Bird, J Ott, E R Giblett
Am J Hum Genet. 1982 May; 34(3): 388–394.
PMCID:
PMC1685353
SummaryPage BrowsePDF–507K

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