Expansion of GGC repeat in the human-specific NOTCH2NLC gene is associated with essential tremor

Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders

(2019) Yun Tian et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease

(2019) Jun Sone et al.   NATURE GENETICS

Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease

(2019) Hiroyuki Ishiura et al.   NATURE GENETICS

Intronic pentanucleotide TTTCA repeat insertion in the SAMD12 gene causes familial cortical myoclonic tremor with epilepsy type 1

(2018) Zhidong Cen et al.   BRAIN

A comparative study of the genetic components of three subcategories of autism spectrum disorder

(2018) Jinchen Li et al.   MOLECULAR PSYCHIATRY

Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy

(2018) Hiroyuki Ishiura et al.   NATURE GENETICS

Accurate detection of complex structural variations using single-molecule sequencing

(2018) Fritz J. Sedlazeck et al.   NATURE METHODS

Essential tremor then and now: How views of the most common tremor diathesis have changed over time

(2018) Elan D. Louis   PARKINSONISM & RELATED DISORDERS

The etiology of essential tremor: Genes versus environment

(2018) Franziska Hopfner et al.   PARKINSONISM & RELATED DISORDERS

Long-read sequencing identified intronic repeat expansions in SAMD12 from Chinese pedigrees affected with familial cortical myoclonic tremor with epilepsy

(2018) Sheng Zeng et al.   JOURNAL OF MEDICAL GENETICS

Is essential tremor a single entity?

(2017) F. Hopfner et al.   EUROPEAN JOURNAL OF NEUROLOGY

Neurodegeneration and the Cerebellum

(2017) Margot Samson et al.   Neurodegenerative Diseases

VarCards: an integrated genetic and clinical database for coding variants in the human genome

(2017) Jinchen Li et al.   NUCLEIC ACIDS RESEARCH

Clinicopathological features of adult-onset neuronal intranuclear inclusion disease

(2016) Jun Sone et al.   BRAIN

Genome-wide association study in essential tremor identifies three new loci

(2016) Stefanie H. Müller et al.   BRAIN

Linkage of familial essential tremor to chromosome 5q35

(2016) James E. Hicks et al.   MOVEMENT DISORDERS

Review on clinical update of essential tremor

(2016) Wei Chunling et al.   NEUROLOGICAL SCIENCES

Knowledge gaps and research recommendations for essential tremor

(2016) Franziska Hopfner et al.   PARKINSONISM & RELATED DISORDERS

Genetics of essential tremor

(2016) Murni Tio et al.   PARKINSONISM & RELATED DISORDERS

The relationship between essential tremor and Parkinson's disease

(2016) Mary Ann Thenganatt et al.   PARKINSONISM & RELATED DISORDERS

Linking Essential Tremor to the Cerebellum: Clinical Evidence

(2015) Julián Benito-León et al.   CEREBELLUM

Linking Essential Tremor to the Cerebellum: Neuropathological Evidence

(2015) Elan D. Louis   CEREBELLUM

Identification of candidate genes for familial early-onset essential tremor

(2015) Xinmin Liu et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Missense mutations inTENM4, a regulator of axon guidance and central myelination, cause essential tremor

(2015) Hyun Hor et al.   HUMAN MOLECULAR GENETICS

Understanding Essential Tremor: Progress on the Biological Front

(2014) Elan D. Louis   Current Neurology and Neuroscience Reports

‘Essential Tremor' or ‘the Essential Tremors': Is This One Disease or a Family of Diseases

(2014) Elan D. Louis   NEUROEPIDEMIOLOGY

Mitochondrial serine protease HTRA2 p.G399S in a kindred with essential tremor and Parkinson disease

(2014) Hilal Unal Gulsuner et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Essential tremor 10, 20, 30, 40: clinical snapshots of the disease by decade of duration

(2013) E. D. Louis et al.   EUROPEAN JOURNAL OF NEUROLOGY

Exome Sequencing Identifies FUS Mutations as a Cause of Essential Tremor

(2012) Nancy D. Merner et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Polymorphisms in the glial glutamate transporter SLC1A2 are associated with essential tremor

(2012) S. Thier et al.   NEUROLOGY

p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS

(2011) Safa Al-Sarraj et al.   ACTA NEUROPATHOLOGICA

Essential tremor—a neurodegenerative disorder associated with cognitive defects?

(2011) Félix Bermejo-Pareja   Nature Reviews Neurology

Skin biopsy is useful for the antemortem diagnosis of neuronal intranuclear inclusion disease

(2011) J. Sone et al.   NEUROLOGY

It is time to remove the ‘benign’ from the essential tremor label

(2011) Elan D. Louis et al.   PARKINSONISM & RELATED DISORDERS

Faster rate of cognitive decline in essential tremor cases than controls: a prospective study

(2010) E. D. Louis et al.   EUROPEAN JOURNAL OF NEUROLOGY

Consensus Statement of the Movement Disorder Society on Tremor

(2010) Günther Deuschl et al.   MOVEMENT DISORDERS

How common is the most common adult movement disorder? Update on the worldwide prevalence of essential tremor

(2010) Elan D. Louis et al.   MOVEMENT DISORDERS

Essential tremor - Neurodegenerative or nondegenerative disease towards a working definition of ET

(2009) Günther Deuschl et al.   MOVEMENT DISORDERS

Variant in the sequence of the LINGO1 gene confers risk of essential tremor

(2009) Hreinn Stefansson et al.   NATURE GENETICS