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Literature DB >> 4434049

Congenital scoliosis associated with encephalopathy in five children of two families.

E K Dretakis, P N Kondoyannis.

Abstract

Entities: Disease Species

Mesh：

Year: 1974 PMID： 4434049

Source DB: PubMed Journal: J Bone Joint Surg Am ISSN： 0021-9355 Impact factor: 5.284

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15 in total

1. MR imaging of brain-stem hypoplasia in horizontal gaze palsy with progressive scoliosis.

Authors: Andrea Rossi; Martin Catala; Roberta Biancheri; Raffaella Di Comite; Paolo Tortori-Donati
Journal: AJNR Am J Neuroradiol Date: 2004 Jun-Jul Impact factor: 3.825

2. Familial infantile scoliosis associated with bilateral paralysis of conjugate gaze.

Authors: M Granat; Z Friedman; T Aloni
Journal: J Med Genet Date: 1979-12 Impact factor: 6.318

3. Patients with horizontal gaze palsy and progressive scoliosis due to ROBO3 E319K mutation have both uncrossed and crossed central nervous system pathways and perform normally on neuropsychological testing.

Authors: G Amoiridis; M Tzagournissakis; P Christodoulou; S Karampekios; H Latsoudis; T Panou; P Simos; A Plaitakis
Journal: J Neurol Neurosurg Psychiatry Date: 2006-06-13 Impact factor: 10.154

4. Congenital horizontal gaze palsy and kyphoscoliosis.

Authors: E K Dretakis
Journal: J Med Genet Date: 1980-08 Impact factor: 6.318

5. Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis.

Authors: Joanna C Jen; Wai-Man Chan; Thomas M Bosley; Jijun Wan; Janai R Carr; Udo Rüb; David Shattuck; Georges Salamon; Lili C Kudo; Jing Ou; Doris D M Lin; Mustafa A M Salih; Tülay Kansu; Hesham Al Dhalaan; Zayed Al Zayed; David B MacDonald; Bent Stigsby; Andreas Plaitakis; Emmanuel K Dretakis; Irene Gottlob; Christina Pieh; Elias I Traboulsi; Qing Wang; Lejin Wang; Caroline Andrews; Koki Yamada; Joseph L Demer; Shaheen Karim; Jeffry R Alger; Daniel H Geschwind; Thomas Deller; Nancy L Sicotte; Stanley F Nelson; Robert W Baloh; Elizabeth C Engle
Journal: Science Date: 2004-04-22 Impact factor: 47.728

Congenital scoliosis associated with encephalopathy in five children of two families.

1. MR imaging of brain-stem hypoplasia in horizontal gaze palsy with progressive scoliosis.

2. Familial infantile scoliosis associated with bilateral paralysis of conjugate gaze.

3. Patients with horizontal gaze palsy and progressive scoliosis due to ROBO3 E319K mutation have both uncrossed and crossed central nervous system pathways and perform normally on neuropsychological testing.

4. Congenital horizontal gaze palsy and kyphoscoliosis.

5. Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis.

6. Unidirectional startle responses and disrupted left-right co-ordination of motor behaviors in robo3 mutant zebrafish.

7. Horizontal gaze palsy and scoliosis: a case report and review of the literature.

8. Scoliosis associated with congenital brain-stem abnormalities. A report of eight cases.

9. Functional MRI, DTI and neurophysiology in horizontal gaze palsy with progressive scoliosis.

10. Horizontal gaze palsy with progressive scoliosis can result from compound heterozygous mutations in ROBO3.