Brain Imaging in Myotonic Dystrophy Type 1
Neurol 89:960-969, Okkersen, K.,et al, 2017
A Neonate with Micrognathia and Hypotonia
Neurol 86:e80-e84, Vawter-Lee, M.M.,et al, 2016
Proton Spectroscopy in Myotonic Dystrophy, Correlations with CTG Repeats
Arch Neurol 55:305-311, 2911998., Chang,L.,et al, 1998
Cerebral Abnormalities in Myotonic Dystrophy
Arch Neurol 50:917-923, Chang,L.,et al, 1993
Magnetic Resonance Imaging and Clinical Correlates of Intellectual Impairment in Myotonic Dystrophy
Arch Neurol 46:536-540, Huber,S.J.,et al, 1989
Central Nervous System Magnetic Resonance Imaging Findings in Myotonic Dystrophy
Arch Neurol 45:36-37, Glantz,R.H.,et al, 1988
A 51-Year-Old Woman with Abnormal Corups Callosum Signal
JAMA Neurol 81:192-193, Xie,N. & Sun, Q, 2024
A 19-Month Old Girl with Infantile-Onset Myopathy and White Matter Changes
Neurol 102:e209258, Lail,G.,et al, 2024
Imaging Patterns Characterizing Mitochondrial Leukodystrophies
AJNR 42:1334-1340, Roosendaal, S.D.,et al, 2021
Accuracy of a Machine Learning Muscle MRI - Based Tool for the Diagnosis of Muscular Dystrophies
Neurol 94:e1094-e1102, Verdu-Diaz, J.,et al, 2020
A 42-year-old Woman with Progressive Cognitive Difficulties and Gait Imbalance
Neurol 94:e1219-e1226, Slama, M.C.C.,et al, 2020
Spinal Cord Involvement in Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia
JAMA Neurol 77:1169-1170, Li, S.,et al, 2020
Muscular Dystrophies
Lancet 394:2025-2038, Mercuri, E.,et al, 2019
Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia: An MRI Study of 16 French Cases
AJNR 39:1657-1661, Codjia, P.,et al, 2018
Pantothenate Kinase - Associated Neurodegeneration (PKAN)
Emedicine.Medscape Sept, Hanna, P.A. & Benbadis, S.R., 2018
Personality Changes, Executive Dysfunction, and Motor and Memory Impairment
JAMA Neurol 74:245-246, Lopez Chiriboga, A.S.,et al, 2017
Clinicopathologic Conference, Paroxysmal Nocturnal Hemoglobinuria
NEJM 377:2581-2590, Case 40-2017, 2017
The Syndrome of Cutaneous Photosensitivity, Growth Failure, and Basal Ganglia Calcification
Neurol 87:e56-e57, Saini, A.G.,et al, 2016
Progressive Neuropsychiatric Symptoms and Motor Impairment
JAMA Neurol 71:794-798, Ghadiri, M.,et al, 2014
Muscle Histology vs MRI in Duchenne Muscular Dystrophy
Neurol 76:346-353, Kinali,M.,et al, 2011
Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
Brain 134:3326-3332, Garone, C.,et al, 2011
Redefining Dysferlinopathy Phenotypes Based on Clinical Findings and Muscle Imaging Studies
Neurol 75:316-323,298, Paradas,C., et al, 2010
A 63-Year-Old Woman with Urinary Incontinence and Progressive Gait Disorder
Neurol 72:1607-1613, Lossos,A.,et al, 2009
A 23-Year-Old Man With Seizures and Visual Deficit
Neurol 70:73-78, Boustany,R.-M.,et al, 2008
T2* and FSE MRI Distinguishes Four Subtypes of Neurodegeneration With Brain Iron Accumulation
Neurol 70:1614-1619, McNeill,A.,et al, 2008
Insights into the Dynamics of Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids
Neurol 71:925-929, Van Gerpen,J.A.,et al, 2008
Sporadic Adult-Onset Leukoencephalopathy with Neuroaxonal Spheroids Mimicking Cerebral MS
Neurol 70:1128-1133, Keegan,B.M.,et al, 2008
What Do We Really See When We Look at Magnetic Resonance Images?
Ann Neurol 62:207-208, Filippi,M. &Hartung,H.-P., 2007
Congenital Muscular Dystrophy
eMedicine (Jan), Lopate,G., 2007
CT and MR Imaging of Neuroaxonal Leukodystrophy Presenting as Early-Onset Frontal Dementia
AJNR 27:1037-1039, Mascalchi,M.,et al, 2006
Case 35-2006: A Newborn Boy with Hypotonia
NEJM 355:2132-2142, Brown,R.H.,et al, 2006
Brain Magnetic Resonance Imaging Findings in Patients with Mitochondrial Cytopathies
Arch Neurol 62:737-742, Barragan-Campos,H.M.,et al, 2005
Diffusion-Weighted and Conventional MR Imaging Findings of Neuroaxonal Dystrophy
AJNR 25:1269-1273, Sener,R.N., 2004
Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
NEJM 348:33-40, Hayflick,S.J.,et al, 2003
Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
NEJM 347:672-680, Case 27-2002, 2002
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002
Autosomal Dominant Diffuse Leukoencephalopathy with Neuroaxonal Spheroids
Neurol 54:463-468, van der Knaap,M.S.,et al, 2000
Infantile Neuroaxonal Dystrophy,Clinical Spectrum and Diagnostic Criteria
Neurol 52:1472-1478, Nardocci,N.,et al, 1999
Sjogren-Larsson Syndrome, Clinical and MRI/MRS Findings in FALDH-Deficient Patients
Neurol 52:1345-1352,1307, Van Domburg,P.H.M.F.,et al, 1999
Congenital Muscular Dystrophy:Use of Brain MR Imaging to Predict Merosin Deficiency
Radiology 206:811-816, Lamer,S.,et al, 1998
MR of Extraocular Muscles in Chronic Progressive External Ophthalmoplegia
AJNR 19:95-99, Carlow,T.J.,et al, 1998
Follow-up of Nine Patients with Hurler Syndrome After Bone Marrow Transplantation
J Pediatr 133:119-125, 71998., Guffon,N.,et al, 1998
Mucolipidosis Type IV; Characteristic MRI Findings
Neurol 51:565-569, Frei,K.P.,et al, 1998
Proximal Myotonic Myopathy with MRI White Matter Abnormalities of the Brain
Neurol 48:33-37, Hund,E.,et al, 1997
MRI of White Matter Changes in the Sjogren-Larsson Syndrome
Neuroradiology 37:576-577, Hussain,M.Z.&Aihara,M., 1996
Brain Abnormalities in Duchenne Muscular Dystrophy:Phosphorus-31 Magnetic Resonance Spectroscopy & Neuropsych Study
Lancet 345:1260-1264, Tracey,I.,et al, 1995
Mitochondrial Neurogastrointestinal Encephalomyopathy (MMGIE) :Clin Biochem & Genetic Features of Auto Recess Mitochond Disorder
Neurol 44:721-727, Hirano,M.,et al, 1994
Wolfram Syndrome:Evidence of a Diffuse Neurodegenerative Disease by Magnetic Resonance Imaging
Neurol 42:1220-1224, 1992,, Rando,T.A.,et al, 1992
Familial Adult-Onset Muscular Dystrophy with Leukoencephalopathy
Ann Neurol 32:577-580, vanEngelen,B.G.M.,et al, 1992