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Select item 102185021.

The Spectrum of Neurological and Sensory Abnormalities in Gaucher Disease Patients: A Multidisciplinary Study (SENOPRO)

Maria Giulia Tullo, Emanuele Cerulli Irelli, Francesca Caramia, Gianmarco Tessari, Carlo Di Bonaventura, Rosaria Turchetta, Anna Teresa Giallonardo, Giovanna Palumbo, Simona Bianchi, Francesca Atturo, Marcella Nebbioso, Patrizia Mancini, Cecilia Guariglia, Fiorina Giona

Int J Mol Sci. 2023 May; 24(10): 8844. Published online 2023 May 16. doi: 10.3390/ijms24108844

PMCID:: PMC10218502

Abstract Article PDF–639K

Select item 4908562.

Pattern visual evoked responses in hereditary spastic paraplegia

I R Livingstone, F L Mastaglia, R Edis, J W Howe

J Neurol Neurosurg Psychiatry. 1981 Feb; 44(2): 176–178. doi: 10.1136/jnnp.44.2.176

PMCID:: PMC490856

Summary Page Browse PDF–342K

Select item 10438103.

Leber's optic neuropathy: clinical and visual evoked response studies in asymptomatic and symptomatic members of a 4-generation family.

I R Livingstone, F L Mastaglia, J W Howe, G E Aherne

Br J Ophthalmol. 1980 Oct; 64(10): 751–757. doi: 10.1136/bjo.64.10.751

PMCID:: PMC1043810

Summary Page Browse PDF–1015K

Select item 27853764.

Slc4a11 Gene Disruption in Mice: CELLULAR TARGETS OF SENSORINEURONAL ABNORMALITIES

Ivan A. Lopez, Mark I. Rosenblatt, Charles Kim, Gary C. Galbraith, Sherri M. Jones, Liyo Kao, Debra Newman, Weixin Liu, Stacey Yeh, Alexander Pushkin, Natalia Abuladze, Ira Kurtz

J Biol Chem. 2009 Sep 25; 284(39): 26882–26896. Published online 2009 Jul 8. doi: 10.1074/jbc.M109.008102

PMCID:: PMC2785376

Abstract Article PDF–5.4M

Select item 28347095.

Genetic Dissection of the Function of Hindbrain Axonal Commissures

Nicolas Renier, Martijn Schonewille, Fabrice Giraudet, Aleksandra Badura, Marc Tessier-Lavigne, Paul Avan, Chris I. De Zeeuw, Alain Chédotal

PLoS Biol. 2010 Mar; 8(3): e1000325. Published online 2010 Mar 9. doi: 10.1371/journal.pbio.1000325

PMCID:: PMC2834709

Abstract Article PDF–7.4M

Select item 28557336.

Nonsense mutation in TMEM126A causing autosomal recessive optic atrophy and auditory neuropathy

Esther Meyer, Michel Michaelides, Louise J. Tee, Anthony G. Robson, Fatimah Rahman, Shanaz Pasha, Linda M. Luxon, Anthony T. Moore, Eamonn R. Maher

Mol Vis. 2010; 16: 650–664. Published online 2010 Apr 13.

PMCID:: PMC2855733

Abstract Article PDF–2.6M

Select item 28591557.

Abnormal N400 word repetition effects in fragile X-associated tremor/ataxia syndrome

John M. Olichney, Shiaohui Chan, Ling M. Wong, Andrea Schneider, Andreea Seritan, Adam Niese, Jin-Chen Yang, Kelsey Laird, Sara Teichholtz, Sara Khan, Flora Tassone, Randi Hagerman

Brain. 2010 May; 133(5): 1438–1450. Published online 2010 Apr 21. doi: 10.1093/brain/awq077

PMCID:: PMC2859155

Abstract Article PDF–1.0M

Select item 30402868.

AUDIOLOGICAL FINDINGS IN OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA (OSMED) ASSOCIATED WITH A NOVEL MUTATION IN COL11A2

Suna Tokgöz-Yilmaz, Sanem Şahli, Suat Fitoz, Gonca Sennaroğlu, Mustafa Tekin

Int J Pediatr Otorhinolaryngol. Author manuscript; available in PMC 2012 Mar 1.

Published in final edited form as: Int J Pediatr Otorhinolaryngol. 2011 Mar; 75(3): 433–437. Published online 2011 Jan 3. doi: 10.1016/j.ijporl.2010.12.004

PMCID:: PMC3040286

Abstract Article PDF–2.0M

Select item 31878029.

Proline and COMT Status Affect Visual Connectivity in Children with 22q11.2 Deletion Syndrome

Maurice J. C. M. Magnée, Victor A. F. Lamme, Monique G. M. de Sain-van der Velden, Jacob A. S. Vorstman, Chantal Kemner

PLoS One. 2011; 6(10): e25882. Published online 2011 Oct 5. doi: 10.1371/journal.pone.0025882

PMCID:: PMC3187802

Abstract Article PDF–909K

Select item 344623510.

Neurophysiological Correlates of Impaired Facial Affect Recognition in Individuals at Risk for Schizophrenia

Wolfgang Wölwer, Jürgen Brinkmeyer, Sanna Stroth, Marcus Streit, Andreas Bechdolf, Stephan Ruhrmann, Michael Wagner, Wolfgang Gaebel

Schizophr Bull. 2012 Sep; 38(5): 1021–1029. Published online 2011 Mar 14. doi: 10.1093/schbul/sbr013

PMCID:: PMC3446235

Abstract Article PDF–506K

Select item 352650911.

Dominant optic atrophy

Guy Lenaers, Christian Hamel, Cécile Delettre, Patrizia Amati-Bonneau, Vincent Procaccio, Dominique Bonneau, Pascal Reynier, Dan Milea

Orphanet J Rare Dis. 2012; 7: 46. Published online 2012 Jul 9. doi: 10.1186/1750-1172-7-46

PMCID:: PMC3526509

Abstract Article PDF–946K

Select item 374237012.

Time and Time Again: Temporal Processing Demands Implicate Perceptual and Gating Deficits in the HIV-1 Transgenic Rat

Landhing M. Moran, Rosemarie M. Booze, Charles F. Mactutus

J Neuroimmune Pharmacol. Author manuscript; available in PMC 2014 Sep 1.

Published in final edited form as: J Neuroimmune Pharmacol. 2013 Sep; 8(4): 988–997. Published online 2013 May 21. doi: 10.1007/s11481-013-9472-6

PMCID:: PMC3742370

Abstract Article PDF–1.6M

Select item 588364113.

A novel homozygous mutation in POLR3A gene causing 4H syndrome: a case report

Vishal V. Tewari, Ritu Mehta, C. M. Sreedhar, Kunal Tewari, Akbar Mohammad, Neerja Gupta, Sheffali Gulati, Madhulika Kabra

BMC Pediatr. 2018; 18: 126. Published online 2018 Apr 4. doi: 10.1186/s12887-018-1108-9

PMCID:: PMC5883641

Abstract Article PDF–1.4M

Select item 672990514.

Visual Response Properties in the Dorsal Lateral Geniculate Nucleus of Mice Lacking the β2 Subunit of the Nicotinic Acetylcholine Receptor

Matthew S. Grubb, Ian D. Thompson

J Neurosci. 2004 Sep 29; 24(39): 8459–8469. doi: 10.1523/JNEUROSCI.1527-04.2004

PMCID:: PMC6729905

Abstract Article PDF–764K

Select item 732994815.

Mutation in Bmpr1b Leads to Optic Disc Coloboma and Ventral Retinal Gliosis in Mice

Xiaohe Yan, Jenny Atorf, David Ramos, Frank Thiele, Susanne Weber, Claudia Dalke, Minxuan Sun, Oliver Puk, Dian Michel, Helmut Fuchs, Matthias Klaften, Gerhard K H. Przemeck, Sibylle Sabrautzki, Jack Favor, Jesús Ruberte, Jan Kremers, Martin Hrabě de Angelis, Jochen Graw, German Mouse Clinic Consortium

Invest Ophthalmol Vis Sci. 2020 Feb; 61(2): 44. Published online 2020 Feb 27. doi: 10.1167/iovs.61.2.44

PMCID:: PMC7329948

Abstract Article PDF–12M

Select item 782128316.

Vestibular phenotype‐genotype correlation in a cohort of 90 patients with Usher syndrome

Talah T. Wafa, Rabia Faridi, Kelly A. King, Christopher Zalewski, Rizwan Yousaf, Julie M. Schultz, Robert J. Morell, Julie Muskett, Amy Turriff, Ekaterini Tsilou, Andrew J. Griffith, Thomas B. Friedman, Wadih M. Zein, Carmen C. Brewer

Clin Genet. 2021 Feb; 99(2): 226–235. Published online 2020 Nov 3. doi: 10.1111/cge.13868

PMCID:: PMC7821283

Abstract Article PDF–1.5M

Select item 842927017.

Visual System Pathology in a Canine Model of CLN5 Neuronal Ceroid Lipofuscinosis

Grace Robinson Kick, Elizabeth J. Meiman, Julianna C. Sabol, Rebecca E.H. Whiting, Juri Ota-Kuroki, Leilani J. Castaner, Cheryl A. Jensen, Martin L. Katz

Exp Eye Res. Author manuscript; available in PMC 2022 Sep 1.

Published in final edited form as: Exp Eye Res. 2021 Sep; 210: 108686. Published online 2021 Jun 30. doi: 10.1016/j.exer.2021.108686

PMCID:: PMC8429270

Abstract Article PDF–2.7M

Select item 859292818.

Atypical attentional filtering of visual information in youth with chromosome 22q11.2 deletion syndrome as indexed by event-related potentials

S.R. Linton, A.M. Popa, S.J. Luck, K. Bolden, K. Angkustsiri, C.S. Carter, T.A. Niendam, T.J. Simon

Neuroimage Clin. 2021; 32: 102877. Published online 2021 Nov 9. doi: 10.1016/j.nicl.2021.102877

PMCID:: PMC8592928

Abstract Article PDF–1.0M

Select item 878291219.

Visual Evoked Potential Abnormalities in Phelan-McDermid Syndrome

Paige M. Siper, Mikaela A. Rowe, Sylvia B. Guillory, Audrey A. Rouhandeh, Julia L. George-Jones, Teresa Tavassoli, Stacey Lurie, Jessica Zweifach, Jordana Weissman, Jennifer Foss-Feig, Danielle Halpern, M. Pilar Trelles, Maureen S. Mulhern, Chloe Brittenham, James Gordon, Vance Zemon, Joseph D. Buxbaum, Alexander Kolevzon

J Am Acad Child Adolesc Psychiatry. Author manuscript; available in PMC 2023 Apr 1.

Published in final edited form as: J Am Acad Child Adolesc Psychiatry. 2022 Apr; 61(4): 565–574.e1. Published online 2021 Jul 22. doi: 10.1016/j.jaac.2021.07.006

PMCID:: PMC8782912

Abstract Article PDF–498K

Select item 1039494520.

Shank3 deletion in PV neurons is associated with abnormal behaviors and neuronal functions that are rescued by increasing GABAergic signaling

Jessica Pagano, Silvia Landi, Alessia Stefanoni, Gabriele Nardi, Marica Albanesi, Helen F. Bauer, Enrico Pracucci, Michael Schön, Gian Michele Ratto, Tobias M. Boeckers, Carlo Sala, Chiara Verpelli

Mol Autism. 2023; 14: 28. Published online 2023 Aug 1. doi: 10.1186/s13229-023-00557-2

PMCID:: PMC10394945

Abstract Article PDF–8.0M

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