Mutational analysis of GNAL gene in isolated dystonia patients from Spain

被引:0
|
作者
Gomez-Garre, P.
Huertas-Fernandez, I.
Caceres-Redondo, M. T.
Alonso-Canovas, A.
Bernal-Bernal, I.
Blanco-Ollero, A.
Bonilla-Toribio, M.
Burguera, J. A.
Carballo, M.
Carrillo, F.
Catalan-Alonso, M. J.
Escamilla-Sevilla, F.
Espinosa-Rosso, R.
Fernandez-Moreno, M. C.
Garcia-Caldentey, J.
Garcia-Moreno, J. M.
Giacometti-Silveira, S.
Gutierrez-Garcia, J.
Jesus-Maestre, S.
Lopez-Valdes, E.
Martinez-Castrillo, J. C.
Medialdea-Natera, M. P.
Mendez-Lucena, C.
Minguez-Castellanos, A.
Moya, M.
Ochoa-Sepulveda, J. J.
Ojea, T.
Rodriguez, N.
Rubio-Agusti, I.
Sillero-Sanchez, M.
del Val, J.
Vargas-Gonzalez, L.
Mir, P.
机构
关键词
D O I
暂无
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
604
引用
收藏
页码:S199 / S199
页数:1
相关论文
共 50 条
  • [31] Mutational analysis of the HGO gene in Finnish alkaptonuria patients
    de Bernabé, DBV
    Peterson, P
    Luopajärvi, K
    Matintalo, P
    Alho, A
    Konttinen, Y
    Krohn, K
    de Córdoba, SR
    Ranki, A
    JOURNAL OF MEDICAL GENETICS, 1999, 36 (12) : 922 - 923
  • [32] Mutational analysis of TARDBP gene in patients affected by Parkinson's disease from Calabria
    Gagliardi, Monica
    Arabia, Gennarina
    Nistico, Rita
    Iannello, Grazia
    Procopio, Radha
    Manfredini, Lucia
    Annesi, Grazia
    Quattrone, Aldo
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2018, 390 : 209 - 211
  • [33] Mutational Analysis in Mitochondrial Calcium Uniporter Gene from Patients with Alzheimer's disease
    Venugopal, Anila
    Elangovan, Ajay
    Babu, Harysh Winster Suresh
    Sabari, Sri S.
    Murali, Sanjana
    Giridharan, Bupesh
    Sidhic, Nihala
    Das Talukdar, Ankur
    Narayanaswamy, Arul
    Vellingiri, Balachandar
    INTERNATIONAL JOURNAL OF HUMAN GENETICS, 2023, 23 (2-3) : 201 - 206
  • [34] Assessment of patients with isolated or combined dystonia: An update on dystonia syndromes
    Fung, Victor S. C.
    Jinnah, H. A.
    Bhatia, Kailash
    Vidailhet, Marie
    MOVEMENT DISORDERS, 2013, 28 (07) : 889 - 898
  • [35] ANALYSIS OF GENETIC TESTING RESULTS IN 292 PATIENTS WITH HEREDITARY DYSTONIA: MUTATIONAL SPECTRUM AND DIAGNOSTIC YIELD
    Pinto, Diana
    Lopes, Fatima
    Rocha, Liliana
    Lopes, Alexandra M.
    Morais, Sara
    Brandao, Ana Filipa
    Lopes, Ana
    Alves-Ferreira, Miguel
    Sa, Joana
    Magalhaes, Marina
    Morgadinho, Ana Sofia
    Velon, Ana Graca
    Damasio, Joana
    Coelho, Miguel
    Duarte, Sofia T.
    Carrilho, Ines
    Lourenco, Joao
    Leao, Miguel
    Carneiro, Diogo
    Cunha, Ines Antunes
    Rosas, Maria Jose
    Quintas, Sofia
    Figueiroa, Sonia
    Silva, Paulo
    Alves, Filipe
    Nabais Sa, Maria Joao
    Freixo, Joao Parente
    Sequeiros, Jorge
    Oliveira, Jorge
    MEDICINE, 2025, 104 (04)
  • [36] Mutational analysis of the XLRS1 gene in Finnish patients
    Huopaniemi, L
    Rantala, A
    EUROPEAN JOURNAL OF HUMAN GENETICS, 1998, 6 : 151 - 151
  • [37] Mutational analysis of the BMP-1 gene in patients with gastroschisis
    Komuro, H
    Mori, M
    Hayashi, Y
    Fukagawa, M
    Makino, S
    Takahara, K
    Greenspan, DS
    Momoi, MY
    JOURNAL OF PEDIATRIC SURGERY, 2001, 36 (06) : 885 - 887
  • [38] Large-scale TUBB4A mutational screening in isolated dystonia and controls
    Zech, Michael
    Boesch, Sylvia
    Jochim, Angela
    Graf, Sebastian
    Lichtner, Peter
    Peters, Annette
    Gieger, Christian
    Mueller, Joerg
    Poewe, Werner
    Linger, Bernhard Has
    Winkelmann, Juliane
    PARKINSONISM & RELATED DISORDERS, 2015, 21 (10) : 1278 - 1281
  • [39] Large-Scale Screening: Phenotypic and Mutational Spectrum in Isolated and Combined Dystonia Genes
    Thomsen, Mirja
    Marth, Katrin
    Loens, Sebastian
    Everding, Judith
    Junker, Johanna
    Borngraeber, Friederike
    Ott, Fabian
    Jesus, Silvia
    Gelderblom, Mathias
    Odorfer, Thorsten
    Kuhlenbaeumer, Gregor
    Kim, Han-Joon
    Schaeffer, Eva
    Becktepe, Jos
    Kasten, Meike
    Brueggemann, Norbert
    Pfister, Robert
    Kollewe, Katja
    Krauss, Joachim K.
    Lohmann, Ebba
    Hinrichs, Frauke
    Berg, Daniela
    Jeon, Beomseok
    Busch, Hauke
    Altenmueller, Eckart
    Mir, Pablo
    Kamm, Christoph
    Volkmann, Jens
    Zittel, Simone
    Ferbert, Andreas
    Zeuner, Kirsten E.
    Rolfs, Arndt
    Bauer, Peter
    Kuehn, Andrea A.
    Baeumer, Tobias
    Klein, Christine
    Lohmann, Katja
    MOVEMENT DISORDERS, 2024, 39 (03) : 526 - 538
  • [40] Mutational analysis of the CDKN2 gene in metastases from patients with cutaneous malignant melanoma
    Platz, A
    Ringborg, U
    Lagerlof, B
    Lundqvist, E
    Sevigny, P
    Inganas, M
    BRITISH JOURNAL OF CANCER, 1996, 73 (03) : 344 - 348