NKX2-1 New Mutation Associated With Myoclonus, Dystonia, and Pituitary Involvement

Phenotypic insights intoADCY5-associated disease

(2016) Florence C.F. Chang et al.   MOVEMENT DISORDERS

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

A Novel De Novo Mutation of the TITF1/NKX2-1 Gene Causing Ataxia, Benign Hereditary Chorea, Hypothyroidism and a Pituitary Mass in a UK Family and Review of the Literature

(2014) Liana Veneziano et al.   CEREBELLUM

SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype

(2014) Kathryn J. Peall et al.   JOURNAL OF NEUROLOGY

Benign hereditary chorea related toNKX2.1: expansion of the genotypic and phenotypic spectrum

(2013) Kathryn J Peall et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Thyroid Transcription Factor 1, a Homeodomain Containing Transcription Factor, Contributes to Regulating Periodic Oscillations in GnRH Gene Expression

(2012) V. Matagne et al.   JOURNAL OF NEUROENDOCRINOLOGY

Duplication of the Pituitary Stalk in a Patient with a Heterozygous Deletion of Chromosome 14 Harboring the Thyroid Transcription Factor-1 Gene

(2010) S. Accornero et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Benign hereditary chorea: Clinical and neuroimaging features in an Italian family

(2010) Elena Salvatore et al.   MOVEMENT DISORDERS

Postmitotic Nkx2-1 Controls the Migration of Telencephalic Interneurons by Direct Repression of Guidance Receptors

(2008) Sandrina Nóbrega-Pereira et al.   NEURON

The Requirement of Nkx2-1 in the Temporal Specification of Cortical Interneuron Subtypes

(2008) Simon J.B. Butt et al.   NEURON