Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
Brain 134:3326-3332, Garone, C.,et al, 2011
Late-Onset Friedreich Ataxia
Arch Neurol 62:1865-1869, Bhidayasiri,R.,et al, 2005
MR of Progressive Neurodegenerative Change in Treated Menkes'Kinky Hair Disease
Neuroradiology 33:181-182, Johnsen,D.E.,et al, 1991
Slowly rogressive Cerebellar Ataxia in a 55-Year-Old Female Patient
JAMA Neurol 80:107-108, Bernaola,M.T.,et al, 2023
Clinicopathologic Conference, Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome
NEJM 385:165-175, Case 20-2021, 2021
The Syndrome of Cutaneous Photosensitivity, Growth Failure, and Basal Ganglia Calcification
Neurol 87:e56-e57, Saini, A.G.,et al, 2016
A 41-Year-Old Woman with Progressive Leg Weakness and Numbness, Dizziness, and Myalgia
Neurol 72:1262-1276, DiMauro,S.,et al, 2009
Downbeat Nystagmus: Aetiology and Comorbidity in 117 Patients
JNNP 79:672-677, Wagner,J.N.,et al, 2008
Clinicopath Conf
Spongiform Encephalopathy (Creutzfeldt-Jakob Disease) , with Amyloid (KURU) Plaques, Case 17-1993, N, JM 328:66,1993., 1993
The Marinesco-Sjogren Syndrome Examined by CT, MR, and 18F-2-Fluoro-2-Deoxy-D-Glucose & PET
Arch Neurol 47:1239-1242, Bromberg,M.B.,et al, 1990
MRI in Cockayne Syndrome Type 1
Neuroradiology 31:276-277, Boltshauser,E.,et al, 1989
Cerebellar Atrophy Demonstrated by Computed Tomography
Neurol 31:405-412, Koller,W.C.,et al, 1981