- Home
- » Tags
- » Episodic ataxia
Top View
- Inherited Tubulopathies of the Kidney Insights from Genetics
- 1107.Full.Pdf
- Episodic Ataxia
- A Genetic Investigation of the Muscle and Neuronal Channelopathies: from Sanger to Next – Generation Sequencing
- Familial Paroxysmal Ataxia: Report of a Family
- June-July 2008
- Episodic Ataxia Type 1: a Neuronal Potassium Channelopathy
- Chromohelkosis May Underlie Chromosomal Instability and Mosaicism in Disease and Aging
- Episodic Neurologic Disorders: Syndromes, Genes, and Mechanisms
- 1 Neurological Channelopathies
- ORPHA Number Disease Or Group of Diseases 300305 11P15.4
- Hereditary Ataxias: Overview
- Amino Acid Transport Defects in Human Inherited Metabolic Disorders
- Genetic Neurological Channelopathies: Molecular Genetics and Clinical Phenotypes J Spillane,1,2 D M Kullmann,2,3 M G Hanna2,3
- Neuromuscular Update I
- Neurological Channelopathies T D Graves, M G Hanna
- CACNA1A Haploinsufficiency Causes Cognitive Impairment, Autism and Epileptic Encephalopathy with Mild Cerebellar Symptoms
- Unite with NAF in Our Commitment to Ataxia Research
- Blueprint Genetics Ataxia Panel
- Mutations in Sodium-Channel Gene SCN9A Cause a Spectrum of Human Genetic Pain Disorders Joost P.H
- Non-Epileptic Paroxysmal Neurological and Cardiac Events: the Differential Diagnosis of Epilepsy
- Episodic Ataxia
- Diagnosed Cases of Rare Diseases at CENTOGENE January 2012 to June 2016
- Clinical Spectrum of KCNA1 Mutations: New Insights Into Episodic Ataxia and Epilepsy Comorbidity
- Differential Diagnosis and Important Diagnostic Tests
- Episodic Ataxia Type 1
- Centogene.Pdf
- Ion Channel Gene Mutations Causing Skeletal Muscle Disorders: Pathomechanisms and Opportunities for Therapy
- Episodic Neurologic Disorders: Syndromes, Genes, and Mechanisms
- Phs001516.V1.P1 OMIM ID
- Inherited Epithelial Transporter Disorders—An Overview
- Prevalence and Incidence of Rare Diseases: Bibliographic Data
- Involvement of the Peripheral Nervous System in Episodic Ataxias
- Prevalence and Incidence of Rare Diseases
- Spinocerebellar Ataxias
- Episodic Disorders: Channelopathies and Beyond
- Genetics of Epilepsy *
- Episodic Ataxia
- Hyperkalemic Periodic Paralysis: Case Report with a SCNA4 Gene Mutation and Literature Review
- The Cerebellum in Behavioral Neurology and Neuropsychiatry by Jeremy D