Rare neurological channelopathies — networks to study patients, pathogenesis and treatment

Combined N-of-1 trials to investigate mexiletine in non-dystrophic myotonia using a Bayesian approach; study rationale and protocol

(2015) Bas C Stunnenberg et al.   BMC Neurology

High Serum GFAP Levels in SCA3/MJD May Not Correlate with Disease Progression

(2015) Yuting Shi et al.   CEREBELLUM

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

Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes

(2014) Sophie Tezenas du Montcel et al.   BRAIN

Exome sequencing in undiagnosed inherited and sporadic ataxias

(2014) Angela Pyle et al.   BRAIN

Episodic ataxia type 1: clinical characterization, quality of life and genotype–phenotype correlation

(2014) Tracey D. Graves et al.   BRAIN

A Kir3.4 mutation causes Andersen-Tawil syndrome by an inhibitory effect on Kir2.1

(2014) Y. Kokunai et al.   NEUROLOGY

Exome Sequencing in the Clinical Diagnosis of Sporadic or Familial Cerebellar Ataxia

(2014) Brent L. Fogel et al.   JAMA Neurology

Non-dystrophic myotonia: prospective study of objective and patient reported outcomes

(2013) Jaya R. Trivedi et al.   BRAIN

Comprehensive Phenotype of the p.Arg420his Allelic Form of Spinocerebellar Ataxia Type 13

(2013) SH Subramony et al.   CEREBELLUM

A novel locus for episodic ataxia:UBR4 the likely candidate

(2013) Judith Conroy et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Single-patient (n-of-1) trials: a pragmatic clinical decision methodology for patient-centered comparative effectiveness research

(2013) Naihua Duan et al.   JOURNAL OF CLINICAL EPIDEMIOLOGY

Rare disease centers for periodic paralysis: China versus the United States and United Kingdom

(2013) Qing Ke et al.   MUSCLE & NERVE

Teleneurology applications: Report of the Telemedicine Work Group of the American Academy of Neurology

(2013) L. R. Wechsler et al.   NEUROLOGY

Clinical characteristics of patients with spinocerebellar ataxias 1, 2, 3 and 6 in the US; a prospective observational study

(2013) Tetsuo Ashizawa et al.   Orphanet Journal of Rare Diseases

Mutations in potassium channelkcnd3cause spinocerebellar ataxia type 19

(2012) Anna Duarri et al.   ANNALS OF NEUROLOGY

Mutations inKCND3cause spinocerebellar ataxia type 22

(2012) Yi-Chung Lee et al.   ANNALS OF NEUROLOGY

Unintended effects of orphan product designation for rare neurological diseases

(2012) Sinéad M. Murphy et al.   ANNALS OF NEUROLOGY

Spinocerebellar ataxias – genotype-phenotype correlations in 104 Brazilian families

(2012) HA Teive et al.   Clinics

Mexiletine for Treatment of Myotonia

(2012) Eric P. Hoffman et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Mexiletine for Symptoms and Signs of Myotonia in Nondystrophic Myotonia

(2012) Jeffrey M. Statland   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Oculomotor and visual axis systems sparing in spinocerebellar ataxia type 13

(2012) M. F. Waters et al.   NEUROLOGY

Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

(2012) Lijia Huang et al.   Orphanet Journal of Rare Diseases

The Status of Telestroke in the United States

(2012) Gisele S. Silva et al.   STROKE

An interactive voice response diary for patients with non-dystrophic myotonia

(2011) Jeffrey M. Statland et al.   MUSCLE & NERVE

The natural history of spinocerebellar ataxia type 1, 2, 3, and 6: A 2-year follow-up study

(2011) H. Jacobi et al.   NEUROLOGY

Frequency of KCNC3 DNA Variants as Causes of Spinocerebellar Ataxia 13 (SCA13)

(2011) Karla P. Figueroa et al.   PLoS One

Episodic Ataxia Associated With EAAT1 Mutation C186S Affecting Glutamate Reuptake

(2009) Boukje de Vries et al.   ARCHIVES OF NEUROLOGY

The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment

(2009) E. Matthews et al.   BRAIN

KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patients

(2009) Karla P. Figueroa et al.   HUMAN MUTATION

Large scale calcium channel gene rearrangements in episodic ataxia and hemiplegic migraine: implications for diagnostic testing

(2009) R W Labrum et al.   JOURNAL OF MEDICAL GENETICS

Late onset hereditary episodic ataxia

(2009) M Damak et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Clinical research for rare disease: Opportunities, challenges, and solutions

(2008) Robert C. Griggs et al.   MOLECULAR GENETICS AND METABOLISM

Treatment of neuromuscular channelopathies: Current concepts and future prospects

(2008) James C. Cleland et al.   Neurotherapeutics