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Magali Fernandez

Research Profile

Disorders

Concepts & Ideas

Genes & Molecular Sequences

Dominant Genes

Physiology

Chemicals & Drugs

Procedures

Chromosome Mapping

Anatomy

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Publications

TOP 3
Dong-Hui Chen; Patrick J Cimino; Laura P W Ranum; Huda Y Zoghbi; Ichiro Yabe; Lawrence J Schut; Russell L Margolis; Hillary Lipe; A Feleke; Mark Matsushita; John Wolff; C Morgan; D Lau; Magali Fernandez; Hidenao Sasaki; Wendy H Raskind; Thomas D Bird
The clinical and genetic spectrum of spinocerebellar ataxia 14.
Dong-Hui Chen; Zoran Brkanac; Christophe Verlinde; Xiao-Jian Tan; Laura Bylenok; David Nochlin; Mark Matsushita; Hillary Lipe; John Wolff; Magali Fernandez; Patrick J Cimino; Thomas D Bird; Wendy H Raskind
Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia.
Zoran Brkanac; Laura Bylenok; Magali Fernandez; Mark Matsushita; Hillary Lipe; John Wolff; David Nochlin; Wendy H Raskind; Thomas D Bird
A new dominant spinocerebellar ataxia linked to chromosome 19q13.4-qter.

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All Publications

2005: Dong-Hui Chen; Patrick J Cimino; Laura P W Ranum; Huda Y Zoghbi; Ichiro Yabe; Lawrence J Schut; Russell L Margolis; Hillary Lipe; A Feleke; Mark Matsushita; John Wolff; C Morgan; D Lau; Magali Fernandez; Hidenao Sasaki; Wendy H Raskind; Thomas D Bird
The clinical and genetic spectrum of spinocerebellar ataxia 14.
Neurology 2005;64(7):1258-60.
2003: Dong-Hui Chen; Zoran Brkanac; Christophe Verlinde; Xiao-Jian Tan; Laura Bylenok; David Nochlin; Mark Matsushita; Hillary Lipe; John Wolff; Magali Fernandez; Patrick J Cimino; Thomas D Bird; Wendy H Raskind
Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia.
American journal of human genetics 2003;72(4):839-49.
2002: Zoran Brkanac; Laura Bylenok; Magali Fernandez; Mark Matsushita; Hillary Lipe; John Wolff; David Nochlin; Wendy H Raskind; Thomas D Bird
A new dominant spinocerebellar ataxia linked to chromosome 19q13.4-qter.
Archives of neurology 2002;59(8):1291-5.
2002: Zoran Brkanac; Magali Fernandez; Mark Matsushita; Hillary Lipe; John Wolff; Thomas D Bird; Wendy H Raskind
Autosomal dominant sensory/motor neuropathy with Ataxia (SMNA): Linkage to chromosome 7q22-q32.
American journal of medical genetics 2002;114(4):450-7.
2001: Magali Fernandez; Wendy H Raskind; Mark Matsushita; John Wolff; Hillary Lipe; Thomas D Bird
Hereditary benign chorea: clinical and genetic features of a distinct disease.
Neurology 2001;57(1):106-10.
2001: Magali Fernandez; Wendy H Raskind; John Wolff; Mark Matsushita; E Yuen; WD Graf; Hillary Lipe; Thomas D Bird
Familial dyskinesia and facial myokymia (FDFM): a novel movement disorder.
Annals of neurology 2001;49(4):486-92.
2000: Magali Fernandez; M E McClain; Refugio A Martinez; K Snow; Hillary Lipe; J Ravits; Thomas D Bird; Albert R La Spada
Late-onset SCA2: 33 CAG repeats are sufficient to cause disease.
Neurology 2000;55(4):569-72.