Neuroaxonal Dystrophy Due to Lysosomal a-N-Acetylgalactosaminidase Deficiency
NEJM 320:1735-1740, Schindler,D.,et al, 1989
Juvenile Neuroaxonal Dystrophy:Clinical, Electrophysiological, & Neuropathological Features
Ann Neurol 3:419, Dorfman,L.J.,et al, 1978
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
Personality Changes, Executive Dysfunction, and Motor and Memory Impairment
JAMA Neurol 74:245-246, Lopez Chiriboga, A.S.,et al, 2017
Inherited Metabolic Diseases of the Nervous System, Neuroaxonal Dystrophy
Adams & Victors Principles of Neurology, Chp 37, pg 972, Ropper, A.H.,et al, 2014
The Floppy Infant: Evaluation of Hypotonia
Pediatrics in Review 30:e66-e76, Peredo, D. & Hannibal M., 2009
Insights into the Dynamics of Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids
Neurol 71:925-929, Van Gerpen,J.A.,et al, 2008
Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
Brain 129:1674-1684, Horvath, R.,et al, 2006
Autosomal Dominant Diffuse Leukoencephalopathy with Neuroaxonal Spheroids
Neurol 54:463-468, van der Knaap,M.S.,et al, 2000
The Prevention of Neurogenetic Disease
Arch Neurol 52:356-362, 3451995., Rosenberg,R.N.&Iannaccone,S.T., 1995
DNA Restriction Fragment Length Polymorphisms in Diff Dx of Genetic Disease:Appl in Neuromusc Dis
Hum Genet 82:55-58, Defesche,J.C.,et al, 1989
Prenatal Genetic Diagnosis in 3000 Amniocenteses
NEJM 300:157-163, Golbus,M.S.,et al, 1979
Epidemiology of Motor-Neuron Diseases
NEJM 288:1047, Bobwick,A.R.,et al, 1973
A 60-Year-Old Man with Weakness and Gait Dysfunction
JAMA Neurol 82:305-306, Jones,F.J.S.,et al, 2025
Clinodactyly as a Key Finding in Distal Spinal Muscular Atrophy
Neurol 104: e213682, Hayakawa,I.,et al, 2025
AAV9-Mediated Gene Therapy for Infantile-Onset Pompes Disease
NEJM 392:2438-2446, 2477, Ma,X.,et al, 2025
The Spectrum of Fragile X Disorders
NEJM 393:281-288, Hagerman,R.H. & Hagerman,P.J., 2025
Multivessel Cerebral Occlusion in Noonan Syndrome
Stroke 56:e359-362, deLima, M.M.,et al, 2025
Clinical Neurologic Features and Evaluation of PTEN Hamartoma Tumor Syndrome, A Systematic Review
Neurol 103:e209844, Dhawan,A.,et al, 2024
Neonatal Seizures
NEJM 388:1692-1700, Ropper.A.H., 2023
Clinicopathologic Conference, Facioscapulohumeral Muscular Dystrophy
NEJM 388:2379-2387, Case 19-2023, 2023
Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
UptoDate 2022 Jan, Darras, B.T., 2022
Bilateral Hearing Loss and Constricted Visual Fields
BMJ 378:e070672, Sachdeva, G. & Shafquat, S., 2022
Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
The Phenotypic Continuum of ATP1A3-Related Disorders
Neurol 99:e1511-e1526, Vezyroglou,A., et al, 2022
Imaging Patterns Characterizing Mitochondrial Leukodystrophies
AJNR 42:1334-1340, Roosendaal, S.D.,et al, 2021
Duchenne Muscular Dystrophy
BMJ 368:L7012, Fox, H.,et al, 2020
Muscular Dystrophies
Lancet 394:2025-2038, Mercuri, E.,et al, 2019
Heart Transplantation in a Patient with Myotonic Dystrophy Type 1 and End-Stage Dilated Cardiomyopathy: A Short Term Follow-up
Acta Myologica 37:267-271, Papa, A.A.,et al, 2018
Making Sense of the Clinical Spectrum of Limb Girdle Muscular Dystrophies
Pract Neurol 18:201-210, Khadilkar,S.V.,et al, 2018
A 45-year-old man with Weakness and Myalgia after Orthopedic Surgery
Neurol 88:e185-e189, Vazquez do Campo, R.,et al, 2017
Intractable Epilepsy and Progressive Cognitive Decline in a Young Man
JAMA Neurol 74:737-740, Cohen, A.L.,et al, 2017
A Neonate with Micrognathia and Hypotonia
Neurol 86:e80-e84, Vawter-Lee, M.M.,et al, 2016
The Syndrome of Cutaneous Photosensitivity, Growth Failure, and Basal Ganglia Calcification
Neurol 87:e56-e57, Saini, A.G.,et al, 2016
Molybdenum Cofactor Deficiency
Neurol 85:e175-e178, Nagappa, M.,et al, 2015
Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
NEJM 370:911-920, Zhou, Q.,et al, 2014
Autism
Lancet 383:896-910, Lai, M.C.,et al, 2014
Brugada Syndrome in Spinal and Bulbar Muscular Atrophy
Neurol 82:1813-1821, Araki, A.,et al, 2014
A 52-year-old Woman with Progressive Proximal Weakness
Neurol 83:e106-e109, Enduri, S.,et al, 2014
Sturge-Weber Syndrome
UptoDate , Nov, Bodensteiner, J.B., 2014
Inherited Metabolic Diseases of the Nervous System, Pyridoxine Dependent Seizures
Adams & Victors Principles of Neurology, Chp 37, pg 951, Ropper, A.H.,et al, 2014
Inherited Metabolic Diseases of the Nervous System, Tay Sachs Disease
Adams & Victors Principles of Neurology, Chp 37, pg 957, Ropper, A.H.,et al, 2014
Degenerative Diseases of the Nervous System, Werdnig-Hoffman Disease, Spinal Muscular Atrophy
Adams & Victors Principles of Neurology, Chp 39, pg 1116, Ropper, A.H.,et al, 2014
Degenerative Diseases of the Nervous System, Kugelberg-Welander Syndrome SMAIII
Adams & Victors Principles of Neurology, Chp 39, pg 1118, Ropper, A.H.,et al, 2014
The Limbic-Girdle Muscular Dystrophies
Neuro Clin 32:729-749, Wicklund, M.P. and Kissel, J.T., 2014
Sturge-Weber Syndrome
MedLink Neurology, July, Comi, A.M., 2013
Range of Genetic Mutations Associated with Severe Non-Syndromic Sporadic Intellectual Disability: An Exome Sequencing Study
Lancet 380:1674-1682, Rauch, A.,et al, 2012
Spinal Muscular Atrophy A Timely Review
Arch Neurol 68:979-984, Kolb, S.J.,et al, 2011
Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
Brain 134:3326-3332, Garone, C.,et al, 2011