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Alexander disease
The National Economic Burden of Rare Disease Study February 2021
Autosomal Dominant Leukodystrophy with Autonomic Symptoms
Follow-Up Study of 22 Chinese Children with Alexander Disease and Analysis of Parental Origin of De Novo GFAP Mutations
Infantile Alexander Disease: Case Report and Review of Literature Dentistry Section
Alexander Disease HH 2020 LCN Winter Meeting
Protein Aggregate Myopathies
Developing New Molecular Tools to Study and Visualize the Intermediate Filament GFAP in Living Cells
Leukodystrophies by Raphael Schiffmann MD (Dr
180K ISCA Oligo-SNP Array CGH Disease Regions Targeted
Charcot-Marie-Tooth and Giant Axonal
Autophagy in Myelinating Glia
Deep Phenotyping for Translational Research and Precision Medicine NIH Symposium: Linking Disease Model Phenotypes to Human Conditions
Role of Gigaxonin in the Regulation of Intermediate Filaments: a Study Using Giant Axonal Neuropathy Patient-Derived Induced Pluripotent Stem Cell-Motor Neurons
Jci.Org Volume 123 Number 5 May 2013 Research Article Vous System, Loss of Peripheral Axons, and Muscle Atrophy (28, 29)
Aging-Related Tau Astrogliopathy in Aging and Neurodegeneration
Astrocytes in Neurodegenerative Disease Nicholas J Maragakis* and Jeffrey D Rothstein
Neuronal Expression of GFAP in Patients with Alzheimer Pathology
Glial Cells Under Physiologic and Pathologic Conditions
Top View
Tau Spreading Mechanisms; Implications for Dysfunctional Tauopathies
Prevalence of Rare Diseases: Bibliographic Data
Alexander Disease: Diagnosis with MR Imaging
Full Text (PDF)
Designating Incurable Neurodegenerative Diseases
Mendeliome Panel Versie V3 (4362 Genen) Centrum Voor Medische Genetica Gent
Alexander Disease
Alexander Disease and Potential Treatment
White Matter Diseases
(DES) Mutation P.Y122H Leading to a Severe Filament Assembly Defect
Collapse of the Keratin Filament Network Through the Expression Of
The Diversity of Intermediate Filaments in Astrocytes
Alexander Disease
Newborndxtm Advanced Sequencing Evaluation Disorders List
Alexander Disease
Astrocytic TDP-43 Pathology in Alexander Disease
Dysfunctions of Neuronal and Glial Intermediate Filaments in Disease
Diagnosed Cases of Rare Diseases at CENTOGENE January 2012 to June 2016
Identification and Characterization of Peripherin Isoforms in Amyotrophic Lateral Sclerosis
Nitric Oxide Mediates Glial-Induced Neurodegeneration in Alexander Disease
Examining Trans-Provincial Diagnosis of Rare Diseases in China: the Importance of Healthcare Resource Distribution and Patient Mobility
Moser Center for Leukodystrophies Factsheet
Juvenile Alexander Disease: a Case Report
Genomic Inform™ Test Carrier Screening Gene List
Lysosomes, Peroxisomes and Mitochondria: Function and Disorder
Glial Cells Under Physiologic and Pathologic Conditions
VU Research Portal
Monogenic Diseases Masquerading As Multiple Sclerosis
Type 1 Established Condition List
Clinical and Genetic Characteristics of Leukodystrophies in Africa Mutaz Amin, Liena Elsayed, Ammar Eltahir Ahmed1
Tissue and Cellular Rigidity and Mechanosensitive Signaling Activation in Alexander Disease
Distal Hereditary Motor Neuropathy in Korean Patients with a Small Heat Shock Protein 27 Mutation
Individual Genome Sequence Gene List (By Disease)
Metabolic Disorders in Pediatric Neurology
Functional Characterization of a GFAP Variant of Uncertain Significance In
The Role of Gigaxonin in the Degradation of the Glial-Specific Intermediate Filament Protein GFAP
White Matter Diseases
Rare Mendelian Disorders Test Requisition Form
Tissue and Cellular Rigidity and Mechanosensitive Signaling Activation in Alexander Disease
2021 Pathology & Lab CPT Updates
Respiratory Chain Deficiency in Nonmitochondrial Disease
Giant Axonal Neuropathy
Advancing the Pathologic Phenotype of Giant Axonal Neuropathy: Early Involvement of the Ocular Lens Diane Armao1,2, Thomas W
Practical Approach to the Diagnosis of Adult-Onset Leukodystrophies
Introducing Intermediate Filaments: from Discovery to Disease
Summary and General Discussion
Esit Diagnosis List
Core Exam Study Guide
Models to Study Intermediate Filament Dynamics and Functions
Disease ID Disorder Name Gene Symbols OMIM ID