The international MDSGene initiative: Systematically exploring genotype-phenotype correlations of hereditary movement disorders

被引:0
|
作者
Petkovic, S.
Schaake, S.
Huang, J.
Madoev, H.
Rasheed, A.
Lill, C.
Lohmann, K.
Klein, C.
Marras, C.
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
1148
引用
收藏
页码:S528 / S529
页数:2
相关论文
共 50 条
  • [21] Genotype-phenotype correlations in FSHD
    Nikolay Zernov
    Mikhail Skoblov
    BMC Medical Genomics, 12
  • [22] Exploring genotype-phenotype correlations in NEB-related Myopathies
    Ogasawara, M.
    Nishimori, Y.
    Eura, N.
    Yoshioka, W.
    Yae, Y.
    Yamanaka, A.
    Hashizume, L.
    Miyazaki, N.
    Sugie, K.
    Hayashi, S.
    Noguchi, S.
    Iida, A.
    Nishino, I.
    NEUROMUSCULAR DISORDERS, 2024, 43
  • [23] Genotype-phenotype correlations in Hungarian patients with hereditary medullary thyroid cancer
    Patocs, Attila
    Klein, Izabella
    Szilvasi, Aniko
    Gergics, Peter
    Toth, Miklos
    Valkusz, Zsuzsa
    Forizs, Erzsebet
    Igaz, Peter
    Al-Farhat, Yousuf
    Tordai, Attila
    Varadi, Andras
    Racz, Karoly
    Esik, Olga
    WIENER KLINISCHE WOCHENSCHRIFT, 2006, 118 (13-14) : 417 - 421
  • [24] GENOTYPE-PHENOTYPE CORRELATIONS IN PHENYLKETONURIA
    TREFZ, FK
    BURGARD, P
    KONIG, T
    GOEBELSCHREINER, B
    LICHTERKONECKI, U
    KONECKI, D
    SCHMIDT, E
    SCHMIDT, H
    BICKEL, H
    CLINICA CHIMICA ACTA, 1993, 217 (01) : 15 - 21
  • [25] New genotype-phenotype correlations in recessive Leber hereditary optic neuropathy
    Barboni, Piero
    Battista, Marco
    Caporali, Leonardo
    Borrelli, Enrico
    Lari, Giorgio
    Checchin, Lisa
    Berni, Alessandro
    Galzignato, Alice
    Fiorini, Claudio
    Nucci, Paolo
    Bandello, Francesco
    Carelli, Valerio
    Cascavilla, Maria
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2023, 64 (08)
  • [26] Novel Genotype-phenotype Correlations in Patients with Hereditary Diffuse Gastric Cancer
    Beane, J. D.
    Chen, I.
    Steinberg, S.
    Rudloff, U.
    ANNALS OF SURGICAL ONCOLOGY, 2015, 22 : S177 - S177
  • [27] Genotype-phenotype correlations in MCADD
    Arnold, G. L.
    Erbe, R.
    Verdaasdonk, K.
    Galvin-Parton, P. A.
    Kronn, D. F.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2006, 29 : 34 - 34
  • [28] Possible genotype-phenotype correlations in transthyretin-related hereditary amyloidosis
    Rapezzi, Claudio
    Riva, Letizia
    Salvi, Fabrizio
    Pastorelli, Francesca
    Ciliberti, Paolo
    Quarta, Candida C.
    Longhi, Simone
    Graziosi, Maddalena
    Bordoni, Barbara
    Perugini, Enrica
    Ferlito, Marinella
    Biagini, Elena
    Branzi, Angelo
    JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2007, 49 (09) : 77A - 77A
  • [29] Possible genotype-phenotype correlations in transthyretin-related hereditary amyloidosis
    Riva, L.
    Salvi, F.
    Pastorelli, F.
    Ciliberti, P.
    Quarta, C. C.
    Longhi, S.
    Graziosi, M.
    Bordoni, B.
    Branzi, A.
    Rapezzi, C.
    EUROPEAN HEART JOURNAL, 2007, 28 : 382 - 382
  • [30] Genotype-phenotype correlations in collagenopathies
    Madej-Pilarczyk, Agnieszka
    Piekutowska-Abramczuk, Dorota
    Wicher, Dorota
    Ciara, Elzbieta
    Jurkiewicz, Dorota
    Jedrzejowska, Maria
    Chalupczynska, Beata
    Cieslikowska, Agata
    Pietrasik, Justyna
    Iwanicka-Pronicka, Katarzyna
    Pelc, Magdalena
    Gawlik, Marzena
    Halat-Wolska, Paulina
    Siestrzykowska, Dorota
    Siuda, Magdalena
    Ploski, Rafal
    Chrzanowska, Krystyna
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 400 - 400