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Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0007-1161, 01/2012, Volume 83, Issue 1, p. 115
BACKGROUND Congenital hereditary endothelial dystrophy (CHED) is a corneal dystrophy characterised by diffuse bilateral corneal clouding resulting in impaired... 
Journal Article
Annals of Neurology, ISSN 0364-5134, 2001, Volume 49, Issue 2, pp. 267 - 271
We describe a French amyotrophic lateral sclerosis (ALS) family with two distinct mutations in the Cu/Zn superoxide dismutase (SOD1) gene. The D90A mutation... 
CUZN-SUPEROXIDE DISMUTASE | HOMOZYGOSITY | ALS | GENE | NEUROSCIENCES | CLINICAL NEUROLOGY | Polymorphism, Single-Stranded Conformational | Superoxide Dismutase - genetics | Genes, Recessive - genetics | Pedigree | Amyotrophic Lateral Sclerosis - genetics | Humans | Adult | Female | Heterozygote | Male | Superoxide Dismutase-1 | Mutation - genetics | Index Medicus
Journal Article
Journal Article
Journal of Clinical Neuromuscular Disease, ISSN 1522-0443, 12/2014, Volume 16, Issue 2, pp. 79 - 82
ABSTRACTAndersen–Tawil syndrome (ATS) is a rare autosomal dominant potassium channelopathy characterized by a triad of periodic paralysis, ventricular... 
Channelopathy | Periodic paralysis | Andersen-tawil syndrome | Myopathy | Seizures | Young Adult | Andersen Syndrome - pathology | Humans | Male | Potassium Channels, Inwardly Rectifying - genetics | Muscular Diseases - genetics | Mutation | Andersen Syndrome - complications | Andersen Syndrome - genetics | Index Medicus
Journal Article
Annals of Neurology, ISSN 0364-5134, 10/2001, Volume 50, Issue 4, pp. 554 - 554
Journal Article
Annals of Neurology, ISSN 0364-5134, 10/2001, Volume 50, Issue 4, pp. 554 - 554
Journal Article
Annals of Neurology, ISSN 0364-5134, 01/2003, Volume 53, Issue 1, pp. 144 - 145
Journal Article
Muscle & Nerve, ISSN 0148-639X, 02/2002, Volume 25, Issue 2, p. 135
Journal Article
American Journal of Ophthalmology, ISSN 0002-9394, 10/2003, Volume 136, Issue 4, p. 678
  Purpose To characterize the molecular defects in two x-linked retinitis pigmentosa (RP) families. We hypothesized that differentRPGRmutations result in... 
Polymerase chain reaction | Disease | Retina | Photoreceptors | Mutation | Hearing impairment | Age
Journal Article
British Journal of Ophthalmology, ISSN 0007-1161, 1999, Volume 83, Issue 1, pp. 115 - 119
Background-Congenital hereditary endothelial dystrophy (CHED) is a corneal dystrophy characterised by diffuse bilateral corneal clouding resulting in impaired... 
OPHTHALMOLOGY | LOCALIZATION | DNA | SYNDROME LOCUS | Homozygote | Pedigree | Humans | Corneal Dystrophies, Hereditary - genetics | Female | Male | Chromosome Mapping | Microsatellite Repeats | Polymorphism, Genetic | Congenital diseases | Disease | Genes | Genomes | Genetic testing | Deoxyribonucleic acid--DNA | Defects | Index Medicus | Original articles - Laboratory science
Journal Article
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