Dysequilibrium syndrome in Hutterites: Autosomal-recessive cerebellar hypoplasia

被引:0
|
作者
Glass, HC
Boycott, KM
Adams, C
Barlow, K
Scott, J
Morgan, K
Fujiwara, M
Wirrell, E
McLeod, DR
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
引用
收藏
页码:S100 / S100
页数:1
相关论文
共 50 条
  • [41] Autosomal-recessive Alport Syndrome and familiar benign hematuria: Diseases of same origin?
    Lambrecht, R
    Gross, O
    Netzer, KO
    Boesken, W
    Weber, M
    JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 1996, 7 (09): : A1836 - A1836
  • [42] Autosomal recessive cerebellar ataxias
    Francesc Palau
    Carmen Espinós
    Orphanet Journal of Rare Diseases, 1
  • [43] Autosomal recessive cerebellar ataxias
    Anheim, M.
    REVUE NEUROLOGIQUE, 2011, 167 (05) : 372 - 384
  • [44] Autosomal recessive cerebellar ataxias
    Tranchant, Christine
    Anheim, Mathieu
    PRESSE MEDICALE, 2009, 38 (12): : 1852 - 1859
  • [45] Autosomal recessive cerebellar ataxias
    Palau, Francesc
    Espinos, Carmen
    ORPHANET JOURNAL OF RARE DISEASES, 2006, 1 (1)
  • [46] The Autosomal Recessive Cerebellar Ataxias
    Anheim, Mathieu
    Tranchant, Christine
    Koenig, Michel
    NEW ENGLAND JOURNAL OF MEDICINE, 2012, 366 (07): : 636 - 646
  • [47] Novel CHP1 mutation in autosomal-recessive cerebellar ataxia: autopsy features of two siblings
    Rie Saito
    Norikazu Hara
    Mari Tada
    Yoshiaki Honma
    Akinori Miyashita
    Osamu Onodera
    Takeshi Ikeuchi
    Akiyoshi Kakita
    Acta Neuropathologica Communications, 8
  • [48] Cerebellar hypoplasia, facial dysmorphism and internal abnormalities: a new recessive syndrome?
    Seller, MJ
    Pal, K
    Moscoso, G
    Nicolaides, K
    Hyett, JA
    CLINICAL DYSMORPHOLOGY, 1998, 7 (01) : 41 - 44
  • [49] GNBS Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability
    Lodder, Elisabeth M.
    De Nittis, Pasquelena
    Koopman, Charlotte D.
    Wiszniewski, Wojciech
    Moura de Souza, Carolina Fischinger
    Lahrouchi, Najim
    Guex, Nicolas
    Napolioni, Valerio
    Tessadori, Federico
    Beekman, Leander
    Nannenberg, Eline A.
    Boualla, Lamiae
    Blom, Nico A.
    de Graaff, Wim
    Kamermans, Maarten
    Cocciadiferro, Dario
    Malerba, Natascia
    Mandriani, Barbara
    Akdemir, Zeynep Hande Coban
    Fish, Richard J.
    Eldomery, Mohammad K.
    Ratbi, Ilham
    Wilde, Arthur A. M.
    de Boer, Teun
    Simonds, William F.
    Neerman-Arbez, Marguerite
    Sutton, V. Reid
    Kok, Fernando
    Lupski, James R.
    Reymond, Alexandre
    Bezzina, Connie R.
    Bakkers, Jeroen
    Merla, Giuseppe
    AMERICAN JOURNAL OF HUMAN GENETICS, 2016, 99 (03) : 704 - 710
  • [50] Mutations in EOGT Confirm the Genetic Heterogeneity of Autosomal-Recessive Adams-Oliver Syndrome
    Shaheen, Ranad
    Aglan, Mona
    Keppler-Noreuil, Kim
    Faqeih, Eissa
    Ansari, Shinu
    Horton, Kim
    Ashour, Adel
    Zaki, Maha S.
    Al-Zahrani, Fatema
    Cueto-Gonzalez, Anna M.
    Abdel-Salam, Ghada
    Temtamy, Samia
    Alkuraya, Fowzan S.
    AMERICAN JOURNAL OF HUMAN GENETICS, 2013, 92 (04) : 598 - 604