Novel Dystonia Genes: Clues on Disease Mechanisms and the Complexities of High-Throughput Sequencing

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations

(2015) Jason A. O’Rawe et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

(2015) Jessica X. Chong et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Missense Mutation in KCTD17 Causes Autosomal Dominant Myoclonus-Dystonia

(2015) Niccolo E. Mencacci et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in HPCA Cause Autosomal-Recessive Primary Isolated Dystonia

(2015) Gavin Charlesworth et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Recessive Mutations in the α3 (VI) Collagen Gene COL6A3 Cause Early-Onset Isolated Dystonia

(2015) Michael Zech et al.   AMERICAN JOURNAL OF HUMAN GENETICS

New insights into the genetics of X-linked dystonia-parkinsonism (XDP, DYT3)

(2015) Aloysius Domingo et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Cerebellar synaptogenesis is compromised in mouse models of DYT1 dystonia

(2015) Valentina Vanni et al.   EXPERIMENTAL NEUROLOGY

TheCACNA1BR1389H variant is not associated with myoclonus-dystonia in a large European multicentric cohort

(2015) Niccolo E. Mencacci et al.   HUMAN MOLECULAR GENETICS

Mutations inANO3andGNALgene in thirty-three isolated dystonia families

(2015) Ling-Yan Ma et al.   MOVEMENT DISORDERS

Mosaic dominantTUBB4Amutation in an inbred family with complicated hereditary spastic paraplegia

(2015) Dahlia Kancheva et al.   MOVEMENT DISORDERS

RELNrare variants in myoclonus-dystonia

(2015) Justus L. Groen et al.   MOVEMENT DISORDERS

ADCY5mutations are another cause of benign hereditary chorea

(2015) Niccolo E. Mencacci et al.   NEUROLOGY

Cav1.3 channels control D2-autoreceptor responses via NCS-1 in substantia nigra dopamine neurons

(2014) Elena Dragicevic et al.   BRAIN

CACNA1B mutation is linked to unique myoclonus-dystonia syndrome

(2014) J. L. Groen et al.   HUMAN MOLECULAR GENETICS

Altered Ca2+signaling in skeletal muscle fibers of the R6/2 mouse, a model of Huntington’s disease

(2014) Peter Braubach et al.   JOURNAL OF GENERAL PHYSIOLOGY

Paroxysmal dyskinesias revisited: A review of 500 genetically proven cases and a new classification

(2014) Roberto Erro et al.   MOVEMENT DISORDERS

Ade novoADCY5mutation causes early-onset autosomal dominant chorea and dystonia

(2014) Raphael Carapito et al.   MOVEMENT DISORDERS

H-ABC syndrome and DYT4: Variable expressivity or pleiotropy of TUBB4 mutations?

(2014) Roberto Erro et al.   MOVEMENT DISORDERS

Genetics of dystonia: What's known? What's new? What's next?

(2013) Katja Lohmann et al.   MOVEMENT DISORDERS

Emerging common molecular pathways for primary dystonia

(2013) Mark S. LeDoux et al.   MOVEMENT DISORDERS

Abnormal cytoplasmic calcium dynamics in central neurons of a dystonia mouse model

(2013) Sadahiro Iwabuchi et al.   NEUROSCIENCE LETTERS

Minimal Change in the Cytoplasmic Calcium Dynamics in Striatal GABAergic Neurons of a DYT1 Dystonia Knock-In Mouse Model

(2013) Sadahiro Iwabuchi et al.   PLoS One

New genetic insights highlight ‘old’ ideas on motor dysfunction in dystonia

(2013) Rose E. Goodchild et al.   TRENDS IN NEUROSCIENCES

Mutations in ANO3 Cause Dominant Craniocervical Dystonia: Ion Channel Implicated in Pathogenesis

(2012) Gavin Charlesworth et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Sustained expression of a neuron-specific isoform of the Taf1 gene in development stages and aging in mice

(2012) Jamiyansuren Jambaldorj et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis

(2012) Cheng Wang et al.   NATURE GENETICS

Neural expression of the transcription factor THAP1 during development in rat

(2012) Y. Zhao et al.   NEUROSCIENCE

CaV1.3-selective L-type calcium channel antagonists as potential new therapeutics for Parkinson's disease

(2012) Soosung Kang et al.   Nature Communications

Convergent mechanisms in etiologically-diverse dystonias

(2011) Valerie B Thompson et al.   EXPERT OPINION ON THERAPEUTIC TARGETS

The functional neuroanatomy of dystonia

(2011) Vladimir K. Neychev et al.   NEUROBIOLOGY OF DISEASE

The role of calcium and mitochondrial oxidant stress in the loss of substantia nigra pars compacta dopaminergic neurons in Parkinson's disease

(2011) D.J. Surmeier et al.   NEUROSCIENCE

Developmental Profile of the Aberrant Dopamine D2 Receptor Response in Striatal Cholinergic Interneurons in DYT1 Dystonia

(2011) Giuseppe Sciamanna et al.   PLoS One

The dystonia gene DYT1 is repressed by the transcription factor THAP1 (DYT6)

(2010) Frank J. Kaiser et al.   ANNALS OF NEUROLOGY

Hereditary dystonia as a neurodevelopmental circuit disorder: Evidence from neuroimaging

(2010) Martin Niethammer et al.   NEUROBIOLOGY OF DISEASE

Neuronal migration disorders

(2009) Renzo Guerrini et al.   NEUROBIOLOGY OF DISEASE

The pathophysiological basis of dystonias

(2008) Xandra O. Breakefield et al.   NATURE REVIEWS NEUROSCIENCE