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by Xu, WR and Zhao, JL and Zhu, YC and Zhang, WH
MEDICINE, ISSN 0025-7974, 01/2017, Volume 96, Issue 1, p. e5545
Rational: Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) is believed to be an autosomal recessive genetic disease, with disorders in... 
inherited diseases | CTC1 | cerebral calcification | cerebroretinal microangiopathy with calcifications and cysts | COMPONENT 1 | MEDICINE, GENERAL & INTERNAL | DISEASE | leukoencephalopathy | DISORDER | case report | MUTATIONS | Calcinosis - genetics | Aftercare - methods | Retinal Diseases - genetics | Brain - diagnostic imaging | Calcinosis - diagnosis | Leukoencephalopathies - genetics | Central Nervous System Cysts - physiopathology | Seizures - genetics | Humans | Brain Neoplasms - physiopathology | Retinal Diseases - therapy | Leukoencephalopathies - physiopathology | Proton Magnetic Resonance Spectroscopy - methods | Muscle Spasticity - therapy | Seizures - physiopathology | Telomere-Binding Proteins - genetics | Leukoencephalopathies - diagnosis | Adult | Central Nervous System Cysts - diagnosis | Female | Ataxia - genetics | Central Nervous System Cysts - therapy | Neuroimaging - methods | Ataxia - physiopathology | Ataxia - therapy | Diagnosis, Differential | Retinal Diseases - diagnosis | Brain Neoplasms - diagnosis | Brain Neoplasms - genetics | Seizures - diagnosis | Seizures - therapy | Ataxia - diagnosis | Disease Progression | Central Nervous System Cysts - genetics | Calcinosis - therapy | Brain Neoplasms - therapy | Brain - pathology | Muscle Spasticity - diagnosis | Leukoencephalopathies - therapy | Disease Management | Muscle Spasticity - physiopathology | Mutation | Retinal Diseases - physiopathology | Muscle Spasticity - genetics | Calcinosis - physiopathology | Care and treatment | Usage | Vasculitis | Diagnosis | Cysts | Lasers in surgery
Journal Article
Journal of Experimental Medicine, ISSN 0022-1007, 07/2016, Volume 213, Issue 8, pp. 1429 - 1440
The analysis of individuals with telomere defects may shed light on the delicate interplay of factors controlling genome stability, premature aging, and... 
ZEBRAFISH EMBRYOS | MEDICINE, RESEARCH & EXPERIMENTAL | REPLICATION RESTART | COMPONENT 1 | HUMAN-CELLS | CTC1 MUTATIONS | END-PROTECTION | HUMAN CST | DUPLEX REPLICATION | IMMUNOLOGY | BONE-MARROW FAILURE | STRAND FILL-IN | Calcinosis - genetics | Central Nervous System Cysts - metabolism | Retinal Diseases - genetics | Leukoencephalopathies - genetics | Seizures - genetics | Humans | Brain Neoplasms - pathology | Seizures - drug therapy | Male | Retinal Diseases - metabolism | Seizures - metabolism | Brain Neoplasms - metabolism | Muscle Spasticity - drug therapy | Leukoencephalopathies - drug therapy | Telomere-Binding Proteins - genetics | Seizures - pathology | Ataxia - drug therapy | Retinal Diseases - pathology | Female | Telomere - metabolism | Ataxia - genetics | Calcinosis - metabolism | Ataxia - metabolism | Ataxia - pathology | Disease Models, Animal | Telomere - genetics | Thalidomide - adverse effects | Leukoencephalopathies - pathology | Calcinosis - drug therapy | Telomere-Binding Proteins - biosynthesis | Brain Neoplasms - genetics | Zebrafish | Leukoencephalopathies - metabolism | Muscle Spasticity - metabolism | Thalidomide - administration & dosage | Brain Neoplasms - drug therapy | Muscle Spasticity - pathology | Central Nervous System Cysts - pathology | Central Nervous System Cysts - genetics | Gene Expression Regulation - drug effects | Central Nervous System Cysts - drug therapy | Telomere - pathology | Animals | Mutation | Retinal Diseases - drug therapy | Calcinosis - pathology | Muscle Spasticity - genetics
Journal Article
Clinical Genetics, ISSN 0009-9163, 08/2017, Volume 92, Issue 2, pp. 180 - 187
Journal Article
Journal of the Neurological Sciences, ISSN 0022-510X, 11/2017, Volume 382, pp. 142 - 145
Coats plus syndrome is a recently described, very rare multisystem disorder. The clinical phenotype is wide and variable, which making the diagnosis more... 
CTC1 | Coats plus syndrome | Calcification | Intracranial | Cysts | Leukoencephalopathy | CEREBRAL MICROANGIOPATHY | DEFECTS | TELOMERE MAINTENANCE | CEREBRORETINAL MICROANGIOPATHY | MAINTENANCE COMPONENT 1 | NEUROSCIENCES | CLINICAL NEUROLOGY | DISORDER | BINDING | CALCIFICATIONS | Calcinosis - genetics | Retinal Diseases - genetics | Leukoencephalopathies - genetics | Central Nervous System Cysts - physiopathology | Seizures - genetics | Brain Neoplasms - diagnostic imaging | Humans | Leukoencephalopathies - diagnostic imaging | Asian Continental Ancestry Group - genetics | Brain Neoplasms - pathology | Brain Neoplasms - physiopathology | Calcinosis - diagnostic imaging | Mutation, Missense | Retinal Diseases - diagnostic imaging | Leukoencephalopathies - physiopathology | Seizures - diagnostic imaging | Young Adult | Seizures - physiopathology | Telomere-Binding Proteins - genetics | Seizures - pathology | China | Retinal Diseases - pathology | Ataxia - diagnostic imaging | Female | Ataxia - genetics | Ataxia - pathology | Ataxia - physiopathology | Leukoencephalopathies - pathology | Brain Neoplasms - genetics | Central Nervous System Cysts - diagnostic imaging | Muscle Spasticity - pathology | Central Nervous System Cysts - pathology | Central Nervous System Cysts - genetics | Family | Muscle Spasticity - physiopathology | Muscle Spasticity - diagnostic imaging | Calcinosis - pathology | Retinal Diseases - physiopathology | Muscle Spasticity - genetics | Calcinosis - physiopathology | Genetic research | Telomeres | Genetic aspects | Genes | Medical research | Medicine, Experimental
Journal Article
Journal Article
Nature Genetics, ISSN 1061-4036, 07/2009, Volume 41, Issue 7, pp. 773 - 775
Journal Article
Journal of Neurology, ISSN 0340-5354, 10/2014, Volume 261, Issue 10, pp. 1911 - 1916
We present a clinical, neuro-radiological and genetic study on a family with members suffering from an autosomal dominantly inherited syndrome characterised by... 
Neurology | Neurosciences | Coats plus disease | Cerebral calcifications | Medicine & Public Health | CRMCC | Labrune syndrome | LCC | Neuroradiology | COMPLEX | TINF2 | CEREBRORETINAL MICROANGIOPATHY | CLINICAL NEUROLOGY | RETINOPATHY | COMPONENT | MUTATIONS | APLASTIC-ANEMIA | Calcinosis - genetics | Retinal Diseases - genetics | Calcinosis - diagnosis | Leukoencephalopathies - genetics | Calcinosis - complications | Seizures - genetics | Humans | Family Health | Male | Tomography, X-Ray Computed | Brain Neoplasms - complications | Seizures - complications | Telomere-Binding Proteins - genetics | Leukoencephalopathies - diagnosis | Central Nervous System Cysts - diagnosis | Female | Ophthalmology | Ataxia - genetics | Retinal Diseases - diagnosis | Retinal Diseases - complications | Brain Neoplasms - diagnosis | Brain Neoplasms - genetics | Seizures - diagnosis | Mutation - genetics | Ataxia - diagnosis | Central Nervous System Cysts - genetics | Magnetic Resonance Imaging | Muscle Spasticity - complications | Leukoencephalopathies - complications | Muscle Spasticity - diagnosis | Central Nervous System Cysts - complications | Ataxia - complications | Muscle Spasticity - genetics | Complications and side effects | Care and treatment | Epilepsy | Development and progression | Research | Leukoencephalopathy | Health aspects
Journal Article
Journal Article
Genes and Development, ISSN 0890-9369, 04/2016, Volume 30, Issue 7, pp. 812 - 826
Journal Article