Works matching DE "NEUROGENETICS"

Results: 618

Investigating the prevalence of the G2019S mutation in Parkinson's disease among a Libyan population.

Published in:

Journal of Parkinson's Disease, 2025, v. 15, n. 3, p. 664, doi. 10.1177/1877718X251324407

By:

Awayn, Nuri H;
Hashish, Sara A;
Salem, Sultan A;
Abod, Sulieman;
Elgahmasi, Sana M;
Ouararhni, Khalid;
Abdesselem, Houari;
Abdi, Ilham Y;
El-Agnaf, Omar A

Publication type:

Article

A ventral hippocampal-lateral septum pathway regulates social novelty preference.

Published in:

eLife, 2025, p. 1, doi. 10.7554/eLife.97259

By:

Rashid, Maha;
Thomas, Sarah;
Isaac, Jennifer;
Karkare, Sonia Corbett;
Klein, Hannah;
Murugan, Malavika

Publication type:

Article

Genetic susceptibility to Parkinson’s disease among South and North Indians: I. Role of polymorphisms in dopamine receptor and transporter genes and association of DRD4 120-bp duplication marker.

Published in:

Neurogenetics, 2006, v. 7, n. 4, p. 223, doi. 10.1007/s10048-006-0048-y

By:

Juyal, Ramesh;
Das, Mitashree;
Punia, Sohan;
Behari, Madhuri;
Nainwal, Geetika;
Singh, Sumit;
Swaminath, Pazhayannur;
Govindappa, Shyla;
Jayaram, Sachi;
Muthane, Uday;
Thelma, B.

Publication type:

Article

Spinal muscular atrophy genotyping by gene dosage using multiple ligation-dependent probe amplification.

Published in:

Neurogenetics, 2006, v. 7, n. 4, p. 269, doi. 10.1007/s10048-006-0051-3

By:

Scarciolla, Oronzo;
Stuppia, Liborio;
Angelis, Maria;
Murru, Stefania;
Palka, Chiara;
Giuliani, Rossella;
Pace, Marta;
Muzio, Antonio;
Torrente, Isabella;
Morella, Annunziata;
Grammatico, Paola;
Giacanelli, Manlio;
Rosatelli, Maria;
Uncini, Antonino;
Dallapiccola, Bruno

Publication type:

Article

The A431E mutation in PSEN1 causing Familial Alzheimer’s Disease originating in Jalisco State, Mexico: an additional fifteen families.

Published in:

Neurogenetics, 2006, v. 7, n. 4, p. 277, doi. 10.1007/s10048-006-0053-1

By:

Murrell, Jill;
Ghetti, Bernardino;
Cochran, Elizabeth;
Macias-Islas, Miguel;
Medina, Luis;
Varpetian, Arousiak;
Cummings, Jeffrey;
Mendez, Mario;
Kawas, Claudia;
Chui, Helena;
Ringman, John

Publication type:

Article

Spastin, the most commonly mutated protein in hereditary spastic paraplegia interacts with Reticulon 1 an endoplasmic reticulum protein.

Published in:

Neurogenetics, 2006, v. 7, n. 2, p. 93, doi. 10.1007/s10048-006-0034-4

By:

Mannan, Ashraf U.;
Boehm, Johann;
Sauter, Simone M.;
Rauber, Anne;
Byrne, Paula C.;
Neesen, Juergen;
Engel, Wolfgang

Publication type:

Article

Interaction between the dopamine D4 receptor and the serotonin transporter promoter polymorphisms in alcohol and tobacco use among 15-year-olds.

Published in:

Neurogenetics, 2006, v. 7, n. 4, p. 239, doi. 10.1007/s10048-006-0050-4

By:

Skowronek, M.;
Laucht, M.;
Hohm, E.;
Becker, K.;
Schmidt, M.

Publication type:

Article

Behavior of mice with mutations in the conserved region deleted in velocardiofacial/DiGeorge syndrome.

Published in:

Neurogenetics, 2006, v. 7, n. 4, p. 247, doi. 10.1007/s10048-006-0054-0

By:

Long, Jeffrey;
LaPorte, Patricia;
Merscher, Sandra;
Funke, Birgit;
Saint-Jore, Bruno;
Puech, Anne;
Kucherlapati, Raju;
Morrow, Bernice;
Skoultchi, Arthur;
Wynshaw-Boris, Anthony

Publication type:

Article

Mutations in the CLCN2 gene are a rare cause of idiopathic generalized epilepsy syndromes.

Published in:

Neurogenetics, 2006, v. 7, n. 4, p. 265, doi. 10.1007/s10048-006-0057-x

By:

Stogmann, E.;
Lichtner, P.;
Baumgartner, C.;
Schmied, M.;
Hotzy, C.;
Asmus, F.;
Leutmezer, F.;
Bonelli, S.;
Assem-Hilger, E.;
Vass, K.;
Hatala, K.;
Strom, T.;
Meitinger, T.;
Zimprich, F.;
Zimprich, A.

Publication type:

Article

Microcephaly and simplified gyral pattern of the brain associated with early onset insulin-dependent diabetes mellitus.

Published in:

Neurogenetics, 2006, v. 7, n. 4, p. 259, doi. 10.1007/s10048-006-0061-1

By:

Wit, M.;
Coo, I.;
Julier, C.;
Delépine, M.;
Lequin, M.;
Laar, I.;
Sibbles, B.;
Bruining, G.;
Mancini, G.

Publication type:

Article

Gene expression analyses reveal molecular relationships among 20 regions of the human CNS.

Published in:

Neurogenetics, 2006, v. 7, n. 2, p. 67, doi. 10.1007/s10048-006-0032-6

By:

Roth, Richard B.;
Hevezi, Peter;
Lee, Jerry;
Willhite, Dorian;
Lechner, Sandra M.;
Foster, Alan C.;
Zlotnik, Albert

Publication type:

Article

Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: another genetic hit in the Mediterranean.

Published in:

Neurogenetics, 2006, v. 7, n. 2, p. 111, doi. 10.1007/s10048-005-0024-y

By:

Cannelli, Natalia;
Cassandrini, Denise;
Bertini, Enrico;
Striano, Pasquale;
Fusco, Lucia;
Gaggero, Roberto;
Specchio, Nicola;
Biancheri, Roberta;
Vigevano, Federico;
Bruno, Claudio;
Simonati, Alessandro;
Zara, Federico;
Santorelli, Filippo M.

Publication type:

Article

Genetic studies of autosomal recessive primary microcephaly in 33 Pakistani families: novel sequence variants in ASPM gene.

Published in:

Neurogenetics, 2006, v. 7, n. 2, p. 105, doi. 10.1007/s10048-006-0042-4

By:

Gul, Asma;
Hassan, Muhammad;
Mahmood, Saqib;
Wenje Chen;
Rahmani, Safa;
Naseer, Muhammad Imran;
Dellefave, Lisa;
Muhammad, Noor;
Rafiq, Muhammad Arshad;
Ansar, Muhammad;
Chishti, Muhammad Salman;
Ali, Ghazanfar;
Siddique, Teepu;
Ahmad, Wasim

Publication type:

Article

Identification of Alu elements mediating a partial PMP22 deletion.

Published in:

Neurogenetics, 2006, v. 7, n. 2, p. 119, doi. 10.1007/s10048-006-0030-8

By:

Matejas, Verena;
Huehne, Kathrin;
Thiel, Christian;
Sommer, Claudia;
Jakubiczka, Sibylle;
Rautenstrauss, Bernd

Publication type:

Article

The urokinase-plasminogen activator (PLAU) gene is not associated with late onset Alzheimer’s disease.

Published in:

2005

By:

Bagnoli, Silvia;
Tedde, Andrea;
Cellini, Elena;
Rotondi, Mario;
Nacmias, Benedetta;
Sorbi, Sandro

Publication type:

Correction Notice

Fine mapping of 16q-linked autosomal dominant cerebellar ataxia type III in Japanese families.

Published in:

Neurogenetics, 2004, v. 5, n. 4, p. 215, doi. 10.1007/s10048-004-0194-z

By:

Hirano, Ryuki;
Takashima, Hiroshi;
Okubo, Ryuichi;
Tajima, Keiko;
Okamoto, Yuji;
Ishida, Shimon;
Tsuruta, Kazuhito;
Arisato, Takayo;
Arata, Hitoshi;
Nakagawa, Masanori;
Osame, Mitsuhiro;
Arimura, Kimiyoshi

Publication type:

Article

Alternative splicing in the N-terminus of Alzheimer’s presenilin 1.

Published in:

Neurogenetics, 2004, v. 5, n. 4, p. 223, doi. 10.1007/s10048-004-0195-y

By:

Scheper, Wiep;
Zwart, Rob;
Baas, Frank

Publication type:

Article

Comprehensive association analysis ofAPOEregulatory region polymorphisms in Alzheimer disease.

Published in:

Neurogenetics, 2004, v. 5, n. 4, p. 201, doi. 10.1007/s10048-004-0189-9

By:

Nicodemus, Kristin K.;
Stenger, Judith E.;
Schmechel, Donald E.;
Welsh-Bohmer, Kathleen A.;
Saunders, Ann M.;
Roses, Allen D.;
Gilbert, John R.;
Vance, Jeffery M.;
Haines, Jonathan L.;
Pericak-Vance, Margaret A.;
Martin, Eden R.

Publication type:

Article

Apolipoprotein E is associated with age at onset of amyotrophic lateral sclerosis.

Published in:

Neurogenetics, 2004, v. 5, n. 4, p. 209, doi. 10.1007/s10048-004-0193-0

By:

Yi-Ju Li;
Pericak-Vance, Margaret A.;
Haines, Jonathan L.;
Siddique, Nailah;
McKenna-Yasek, Diane;
Wu-Yen Hung;
Sapp, Peter;
Allen, Coy I.;
Wenjie Chen;
Hosler, Betsy;
Saunders, Ann M.;
Dellefave, Lisa M.;
Brown, Robert H.;
Siddique, Teepu

Publication type:

Article

Ureterocystoplasty: a novel approach to augment small capacity urinary bladder in adults.

Published in:

Indian Journal of Surgery, 2009, v. 71, n. 3, p. 151, doi. 10.1007/s12262-009-0040-5

By:

Singh, Vishwajeet;
Sinha, Rahul Janak;
Sankhwar, S. N.

Publication type:

Article

A Neuro-Genetic Network for Predicting Uniaxial Compressive Strength of Rocks.

Published in:

Geotechnical & Geological Engineering, 2012, v. 30, n. 4, p. 1053, doi. 10.1007/s10706-012-9510-9

By:

Monjezi, M.;
Amini Khoshalan, H.;
Razifard, M.

Publication type:

Article

Cerebral Autoregulation: From Models to Clinical Applications.

Published in:: Cardiovascular Engineering: An International Journal, 2008, v. 8, n. 1, p. 42, doi. 10.1007/s10558-007-9044-6
Publication type:: Article

Abnormal Vertical EyeMovements as a Clue for Diagnosis of Niemann-Pick Type C.

Published in:

Tremor & Other Hyperkinetic Movements, 2018, p. 1, doi. 10.7916/D8XS7BGD

By:

Gupta, Deepak K.;
Blanco-Palmero, Victor A.;
Chung, Wendy K.;
Sheng-Han Kuo

Publication type:

Article

Acceptability and Effectiveness of Humor- and Play-Infused Exposure Therapy for Fears in Williams Syndrome.

Published in:

Evidence-Based Practice in Child & Adolescent Mental Health, 2022, v. 7, n. 1, p. 94, doi. 10.1080/23794925.2021.1950080

By:

Klein-Tasman, Bonita P.;
Young, Brianna N.;
Levine, Karen;
Rivera, Kenia;
Miecielica, Elizabeth J.;
Yund, Brianna D.;
French, Sydni E.

Publication type:

Article

Special section in honor of William L. Pak, a neurogenetics pioneer.

Published in:

2024

By:

Ganetzky, Barry

Publication type:

Editorial

Tribute to Dr. William L. Pak and the origins of the Cold Spring Harbor summer course on Drosophila neurobiology.

Published in:

2024

By:

Wu, Chun-Fang

Publication type:

Editorial

Personal essay of a rookie's journey with Bill Pak and his legacy: tales and perspectives on PI-PLC, NorpA and cyclophilin, NinaA - William L. Pak, PhD., 1932–2023: in memoriam.

Published in:

Journal of Neurogenetics, 2024, v. 38, n. 4, p. 165, doi. 10.1080/01677063.2024.2366455

By:

Ferreira, Paulo A.

Publication type:

Article

Editorial/preface: Neurogenetics innovation in South Korea.

Published in:

Journal of Neurogenetics, 2023, v. 37, n. 1/2, p. 1, doi. 10.1080/01677063.2023.2216054

By:

Wang, Jing W.;
Suh, Greg S. B.;
Wu, Chun-Fang

Publication type:

Article

The contribution of C. elegans neurogenetics to understanding neurodegenerative diseases.

Published in:

Journal of Neurogenetics, 2020, v. 34, n. 3/4, p. 527, doi. 10.1080/01677063.2020.1803302

By:

Liang, Joseph J. H.;
McKinnon, Issa A.;
Rankin, Catharine H.

Publication type:

Article

Neurogenetics of nictation, a dispersal strategy in nematodes.

Published in:

Journal of Neurogenetics, 2020, v. 34, n. 3/4, p. 510, doi. 10.1080/01677063.2020.1788552

By:

Yang, Heeseung;
Lee, Bo Yun;
Yim, Hyunsoo;
Lee, Junho

Publication type:

Article

A biographical sketch of Troy D. Zars (1967–2018).

Published in:

Journal of Neurogenetics, 2020, v. 34, n. 1, p. 2, doi. 10.1080/01677063.2020.1716749

By:

Gerber, Bertram;
King, Elizabeth G.;
Sitaraman, Divya

Publication type:

Article

Future perspectives of neurogenetics – in honor of Troy D. Zars (1967–2018).

Published in:

2020

By:

Gerber, Bertram;
King, Elizabeth G.;
Schulz, David;
Tanimoto, Hiromu;
Waddell, Scott;
Wu, Chun-Fang

Publication type:

Editorial

Novel genetic approaches to behavior in Drosophila.

Published in:

Journal of Neurogenetics, 2017, v. 31, n. 4, p. 288, doi. 10.1080/01677063.2017.1395875

By:

Martín, Fernando;
Alcorta, Esther

Publication type:

Article

Computational prediction of the phenotypic effects of genetic variants: basic concepts and some application examples in Drosophila nervous system genes.

Published in:

Journal of Neurogenetics, 2017, v. 31, n. 4, p. 307, doi. 10.1080/01677063.2017.1398241

By:

Sánchez-Gracia, Alejandro;
Guirao-Rico, Sara;
Hinojosa-Alvarez, Silvia;
Rozas, Julio

Publication type:

Article

Neurogenetics in Spain.

Published in:

2017

By:

Ferrús, Alberto

Publication type:

Editorial

Neurogenetics of Drosophila circadian clock: expect the unexpected.

Published in:

Journal of Neurogenetics, 2017, v. 31, n. 4, p. 250, doi. 10.1080/01677063.2017.1370466

By:

Jarabo, Patricia;
Martin, Francisco A.

Publication type:

Article

Zebrafish: from genes and neurons to circuits, behavior and disease.

Published in:

2017

By:

Chandrasekhar, Anand;
Guo, Su;
Masai, Ichiro;
Nicolson, Teresa;
Wu, Chun-Fang

Publication type:

Editorial

Epidemiology and molecular mechanism of frontotemporal lobar degeneration/amyotrophic lateral sclerosis with repeat expansion mutation in C9orf72.

Published in:

Journal of Neurogenetics, 2015, v. 29, n. 2/3, p. 85, doi. 10.3109/01677063.2015.1085980

By:

Ishiura, Hiroyuki;
Tsuji, Shoji

Publication type:

Article

Neurodegenerative diseases: From the bench to the clinic.

Published in:

Journal of Neurogenetics, 2015, v. 29, n. 2/3, p. 39, doi. 10.3109/01677063.2015.1078330

By:

Soong, Bing-Wen;
Wu, Chun-Fang

Publication type:

Article

Rapamycin alleviates pathogenesis of a new Drosophila model of ALS-TDP.

Published in:

Journal of Neurogenetics, 2015, v. 29, n. 2/3, p. 59, doi. 10.3109/01677063.2015.1077832

By:

Cheng, Ching-Wei;
Lin, Meng-Jau;
Shen, Che-Kun James

Publication type:

Article

Clinical characteristics of combined cases of spinocerebellar ataxia types 6 and 31.

Published in:

Journal of Neurogenetics, 2015, v. 29, n. 2/3, p. 80, doi. 10.3109/01677063.2015.1054992

By:

Ohmori, Hiroyuki;
Hara, Akio;
Ishikawa, Kinya;
Mizusawa, Hidehiro;
Ando, Yukio

Publication type:

Article

A histone modification identifies a DNA element controlling slo BK channel gene expression in muscle.

Published in:

Journal of Neurogenetics, 2015, v. 29, n. 2/3, p. 124, doi. 10.3109/01677063.2015.1050097

By:

Li, Xiaolei;
Ghezzi, Alfredo;
Krishnan, Harish R.;
Pohl, Jascha B.;
Bohm, Arun Y.;
Atkinson, Nigel S.

Publication type:

Article

Drosophila as a model to study the role of glia in neurodegeneration.

Published in:

Journal of Neurogenetics, 2015, v. 29, n. 2/3, p. 69, doi. 10.3109/01677063.2015.1076816

By:

Lee, Yuan-Ming;
Sun, Y. Henry

Publication type:

Article

Allele-selective suppression of mutant genes in polyglutamine diseases.

Published in:

Journal of Neurogenetics, 2015, v. 29, n. 2/3, p. 41, doi. 10.3109/01677063.2015.1073275

By:

Liu, Chia-Rung;
Cheng, Tzu-Hao

Publication type:

Article

Using human induced pluripotent stem cells to model cerebellar disease: Hope and hype.

Published in:

Journal of Neurogenetics, 2015, v. 29, n. 2/3, p. 95, doi. 10.3109/01677063.2015.1053478

By:

Wiethoff, Sarah;
Arber, Charles;
Li, Abi;
Wray, Selina;
Houlden, Henry;
Patani, Rickie

Publication type:

Article

The Dmca1D channel mediates Ca inward currents in Drosophila embryonic muscles.

Published in:

Journal of Neurogenetics, 2015, v. 29, n. 2/3, p. 117, doi. 10.3109/01677063.2015.1054991

By:

Hara, Yusuke;
Koganezawa, Masayuki;
Yamamoto, Daisuke

Publication type:

Article

AMPK-mediated regulation of neuronal metabolism and function in brain diseases.

Published in:

Journal of Neurogenetics, 2015, v. 29, n. 2/3, p. 50, doi. 10.3109/01677063.2015.1067203

By:

Liu, Yu-Ju;
Chern, Yijuang

Publication type:

Article

Drosophila mutants of the autism candidate gene neurobeachin ( rugose ) exhibit neuro-developmental disorders, aberrant synaptic properties, altered locomotion, and impaired adult social behavior and activity patterns.

Published in:

Journal of Neurogenetics, 2015, v. 29, n. 2/3, p. 135, doi. 10.3109/01677063.2015.1064916

By:

Wise, Alexandria;
Tenezaca, Luis;
Fernandez, Robert W.;
Schatoff, Emma;
Flores, Julian;
Ueda, Atsushi;
Zhong, Xiaotian;
Wu, Chun-Fang;
Simon, Anne F.;
Venkatesh, Tadmiri

Publication type:

Article

What we have learned from the next-generation sequencing: Contributions to the genetic diagnoses and understanding of pathomechanisms of neurodegenerative diseases.

Published in:

Journal of Neurogenetics, 2015, v. 29, n. 2/3, p. 103, doi. 10.3109/01677063.2015.1060972

By:

Liu, Yo-Tsen;
Lee, Yi-Chung;
Soong, Bing-Wen

Publication type:

Article

A gustatory second-order neuron that connects sucrose-sensitive primary neurons and a distinct region of the gnathal ganglion in the Drosophila brain.

Published in:

Journal of Neurogenetics, 2015, v. 29, n. 2/3, p. 144, doi. 10.3109/01677063.2015.1054993

By:

Miyazaki, Takaaki;
Lin, Tzu-Yang;
Ito, Kei;
Lee, Chi-Hon;
Stopfer, Mark

Publication type:

Article