검색어 : 통합검색[Neurogenetics]
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961
- Neuronal ceroid lipofuscinosis 11 (CLN11) presenting with early-onset cone-rod dystrophy and learning difficulties
- Maximiano-Alves, Gustavo; do Amaral Moreto Caravelas, Renata; Gonç alves, Trajano Aguiar Pires; Corniani, Kelvin Ferrari; Nather, Jú lio Cesar; Geraldi-Tomaselli¹, Camila Vasconcelos; Frezatti, Rodrigo Siqueira Soares; Fernandes, Regina Maria Franç a; dos Santos, Antô nio Carlos; Marques, Wilson; Tomaselli, Pedro José ; (Neurogenetics, v.26, 2025, pp.20)
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962
- Retraction Note: Impact of flexible assertive community treatment model (FACT) on community rehabilitation of schizophrenia in Southern China
- Zhao, Yinglin; Zheng, Shaoxiong; Zhang, Handi; Zhang, Yinnan; Wang, Zidong; Huang, Qingjun; ; (Neurogenetics, v.26, 2025, pp.26)
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963
- Association between migraine and a functional polymorphism at the dopamine β-hydroxylase locus
- Fernandez, F.; Colson, N.; Quinlan, S.; MacMillan, J.; Lea, R. A.; Griffiths, L. R.; ; (Neurogenetics, v.10, 2009, pp.199-208)
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964
- The impact of spermine synthase (SMS) mutations on brain morphology
- Kesler, Shelli R.; Schwartz, Charles; Stevenson, Roger E.; Reiss, Allan L.; ; (Neurogenetics, v.10, 2009, pp.299-305)
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965
- The fourth family in the world with a novel variant in the ATP5MK gene: four siblings with complex V (ATP synthase) deficiency
- İ pek, Rojan; Akalın, Akç ahan; Habiloğ lu, Esra; Hattapoğ lu, Salih; Pirinç ç ioğ lu, Ayfer Gö zü ; (Neurogenetics, v.26, 2025, pp.33)
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966
- Clinical features and haplotype analysis of newly identified Japanese patients with gelsolin-related familial amyloidosis of Finnish type
- Taira, Makiko; Ishiura, Hiroyuki; Mitsui, Jun; Takahashi, Yuji; Hayashi, Toshihiro; Shimizu, Jun; Matsukawa, Takashi; Saito, Naoko; Okada, Kazumasa; Tsuji, Sadatoshi; Sawamura, Hiromasa; Amano, Shiro; Goto, Jun; Tsuji, Shoji; ; (Neurogenetics, v.13, 2012, pp.237-243)
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967
- Repeated clear benefits of immunotherapy in a patient with Charcot-Marie-Tooth disease carrying a rare point mutation in PMP22
- Kawai, Honami; Nishida, Yoichiro; Kanda, Takashi; Yokota, Takanori; ; (Neurogenetics, v.26, 2025, pp.37)
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968
- The SETX missense variation spectrum as evaluated in patients with ALS4-like motor neuron diseases
- Arning, Larissa; Epplen, Jö rg T.; Rahikkala, Elisa; Hendrich, Corinna; Ludolph, Albert C.; Sperfeld, Anne-Dorte; ; (Neurogenetics, v.14, 2013, pp.53-61)
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969
- Dysregulated expression of lipid storage and membrane dynamics factors in <i>Tia1</i> knockout mouse nervous tissue
- Heck, Melanie Vanessa; Azizov, Mekhman; Stehning, Tanja; Walter, Michael; Kedersha, Nancy; Auburger, Georg; Experimental Neurology, Department of Neurology, Goethe University Medical School, Building 89, 3rd floor, Theodor Stern Kai 7, 60590 Frankfurt am Main, Germany; Experimental Neurology, Department of Neurology, Goethe University Medical School, Building 89, 3rd floor, Theodor Stern Kai 7, 60590 Frankfurt am Main, Germany; Experimental Neurology, Department of Neurology, Goethe University Medical School, Building 89, 3rd floor, Theodor Stern Kai 7, 60590 Frankfurt am Main, Germany; Institute for Medical Genetics, Eberhard-Karls-University of Tuebingen, 72076 Tü bingen, Germany; Division of Rheumatology, Immunology and Allergy, Brigham and Women’s Hospital, Smith 652, One Jimmy Fund Way, Boston, MA 02115 USA; Experimental Neurology, Department of Neurology, Goethe University Medical School, Building 89, 3rd floor, Theodor Stern Kai 7, 60590 Frankfurt am Main, Germany; (Neurogenetics, v.15, 2014, pp.135-144)
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970
- Movement disorder and neuronal migration disorder due to <i>ARFGEF2</i> mutation
- de Wit, M. C. Y.; de Coo, I. F. M.; Halley, D. J. J.; Lequin, M. H.; Mancini, G. M. S.; Department of Pediatric Neurology, Erasmus MC Sophia Children’s Hospital, Rotterdam, the Netherlands; Department of Pediatric Neurology, Erasmus MC Sophia Children’s Hospital, Rotterdam, the Netherlands; Department of Clinical Genetics, Erasmus MC Sophia Children’s Hospital, PO box 2040, 3000 CA Rotterdam, the Netherlands; Department of Pediatric Radiology, Erasmus MC Sophia Children’s Hospital, Rotterdam, the Netherlands; Department of Clinical Genetics, Erasmus MC Sophia Children’s Hospital, PO box 2040, 3000 CA Rotterdam, the Netherlands; (Neurogenetics, v.10, 2009, pp.333-336)
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