A Middle-aged man with Progressive Ophthalmoparesis, Ataxia, and Spastic Paraparesis
JAMA Neurol 74:733-736, Kung, N.H.,et al, 2017
Clinical Criteria for Diagnosis of Machado-Joseph Disease:Report of a Non-Azorean Portuguese Family
Neurol 30:319-322, Lima,L.,et al, 1980
Autosomal Dominant System Degeneration in Portugese Families of the Azores Islands
Neurol 28:703, Coutinho,P.,et al, 1978
Expanding Clinical Spectrum an Anti-GQ1b Antibody Syndrome, A Review
JAMA Neurol 81:762-770, Lee,S-U.,et al, 2024
Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
NEJM 376:1668-1678, CASE 13-2017, 2017
A 58-year-old man with Progressive Ptosis and Walking Difficulty
Neurol 89:e1-e5, Kuo, P.,et al, 2017
Diagnosis and Therapy in Neuromuscular Disorders: Diagnosis and New Treatments in Mitochondrial Diseases
JNNP 80:943-953, Rahman,S. &Hanna,M.G., 2009
Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
Brain 129:1674-1684, Horvath, R.,et al, 2006
Mitochondrial DNA Polymerase-y and Human Disease
Hum Mol Genet 15:R244-R252, Hudson, G.,et al, 2006
Clinicopath Conf
Kearns-Sayre Syndrome (Oculocraniosomatic Neuromuscular Disease with Mitochondrial Myopathy) , Case, 4-1,NEJM 317:493-501,1987., 1987
Small Bowel Resection with Vitamin E Deficiency & Progressive Spinocerebellar Syndrome
Neurol 34:1046-1052, Bertoni,J.M.,et al, 1984
Brainstem Encephalitis & The Syndrome Of Miller Fisher
Brain 105:481-495, Al-Din,A.N.,et al, 1982
Mitral Valve Prolapse & Ophthalmoplegia:A Progressive, Cardioneurologic Syndrome
Ann Int Med 92:735-741, Darsee,J.R.,et al, 1980
Kearns-Sayre Syndrome with Hypoparathyroidism
Ann Neurol 3:513, Horwitz,S.J.,et al, 1978