Literature DB >> 18483196

Genes and quadrupedal locomotion in humans.

Nicholas Humphrey, Stefan Mundlos, Seval Türkmen.   

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Year:  2008        PMID： 18483196      PMCID： PMC2396709          DOI： 10.1073/pnas.0802839105

Source DB:  PubMed          Journal:  Proc Natl Acad Sci U S A        ISSN： 0027-8424            Impact factor:   11.205


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  3 in total

1.  Cerebellar hypoplasia and quadrupedal locomotion in humans as a recessive trait mapping to chromosome 17p.

Authors:  S Türkmen; O Demirhan; K Hoffmann; A Diers; C Zimmer; K Sperling; S Mundlos
Journal:  J Med Genet       Date:  2005-12-21       Impact factor: 6.318

2.  Cerebellar hypoplasia, with quadrupedal locomotion, caused by mutations in the very low-density lipoprotein receptor gene.

Authors:  S Türkmen; K Hoffmann; Osman Demirhan; Defne Aruoba; N Humphrey; S Mundlos
Journal:  Eur J Hum Genet       Date:  2008-03-26       Impact factor: 4.246

3.  Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans.

Authors:  Tayfun Ozcelik; Nurten Akarsu; Elif Uz; Safak Caglayan; Suleyman Gulsuner; Onur Emre Onat; Meliha Tan; Uner Tan
Journal:  Proc Natl Acad Sci U S A       Date:  2008-03-07       Impact factor: 11.205
  3 in total
  10 in total

1.  Reply to Herz et al. and Humphrey et al.: Genetic heterogeneity of cerebellar hypoplasia with quadrupedal locomotion.

Authors:  Tayfun Ozcelik; Nurten Akarsu; Elif Uz; Safak Caglayan; Suleyman Gulsuner; Onur Emre Onat; Meliha Tan; Uner Tan
Journal:  Proc Natl Acad Sci U S A       Date:  2008-06-10       Impact factor: 11.205

2.  Two Indian Families with Quadrupedal Locomotion Resembling Uner Tan Syndrome: A Video Document.

Authors:  Gurusidheshwar Wali
Journal:  Mov Disord Clin Pract       Date:  2016-06-06

3.  Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy.

Authors:  Luis E Kolb; Zulfikar Arlier; Cengiz Yalcinkaya; Ali K Ozturk; Jennifer A Moliterno; Ozdem Erturk; Fatih Bayrakli; Baris Korkmaz; Michael L DiLuna; Katsuhito Yasuno; Kaya Bilguvar; Tayfun Ozcelik; Beyhan Tuysuz; Matthew W State; Murat Gunel
Journal:  Neurogenetics       Date:  2010-01-15       Impact factor: 2.660

4.  A neuronal VLDLR variant lacking the third complement-type repeat exhibits high capacity binding of apoE containing lipoproteins.

Authors:  Keiko Sakai; Oliver Tiebel; M Cecilia Ljungberg; Merry Sullivan; Hye-Jeong Lee; Tomoya Terashima; Rongying Li; Kunihisa Kobayashi; Hui-Chen Lu; Lawrence Chan; Kazuhiro Oka
Journal:  Brain Res       Date:  2009-04-22       Impact factor: 3.252

Review 5.  Apolipoprotein E receptors in the nervous system.

Authors:  Joachim Herz
Journal:  Curr Opin Lipidol       Date:  2009-06       Impact factor: 4.776

6.  A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion.

Authors:  Bassam R Ali; Jennifer L Silhavy; Matthew J Gleeson; Joseph G Gleeson; Lihadh Al-Gazali
Journal:  BMC Med Genet       Date:  2012-09-14       Impact factor: 2.103

7.  Uner tan syndrome: history, clinical evaluations, genetics, and the dynamics of human quadrupedalism.

Authors:  Uner Tan
Journal:  Open Neurol J       Date:  2010-07-16

8.  Human quadrupeds, primate quadrupedalism, and Uner Tan Syndrome.

Authors:  Liza J Shapiro; Whitney G Cole; Jesse W Young; David A Raichlen; Scott R Robinson; Karen E Adolph
Journal:  PLoS One       Date:  2014-07-16       Impact factor: 3.240

9.  Trunk orientation, stability, and quadrupedalism.

Authors:  Y P Ivanenko; W G Wright; R J St George; V S Gurfinkel
Journal:  Front Neurol       Date:  2013-03-14       Impact factor: 4.003

10.  CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait.

Authors:  Seval Türkmen; Gao Guo; Masoud Garshasbi; Katrin Hoffmann; Amjad J Alshalah; Claudia Mischung; Andreas Kuss; Nicholas Humphrey; Stefan Mundlos; Peter N Robinson
Journal:  PLoS Genet       Date:  2009-05-22       Impact factor: 6.020
  10 in total

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