The Limbic-Girdle Muscular Dystrophies
Neuro Clin 32:729-749, Wicklund, M.P. and Kissel, J.T., 2014
Heterogeneity of Coenzyme Q10 Deficiency
Arch Neurol 69:978-983, Emmanuele, V.,et al, 2012
Diagnosis and Etiology of Congenital Muscular Dystrophy
Neurol 71:312-321,308, Peat,R.A.,et al., 2008
A 16-Year-Old Girl With Progressive Weakness of the Left Leg
Neurol 69:84-90, Hahn,A.F.,et al, 2007
Magnetic Resonance Imaging of Biceps Femoris Muscles in Benign Acute Childhood Myositis
Arch Neurol 64:1200-1201, Kawarai,T.,et al, 2007
A Floppy Child with Failure to Thrive
Lancet 366:176, Loma-Sanner,I.,et al, 2005
Clinicopath Conf., Chronic Inflammatory Demyelinating Polyneuropathy
NEJM 348:735-743, Case 6-2003, 2003
Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
NEJM 347:672-680, Case 27-2002, 2002
Subacute Sclerosing Panencephalitis
Postgrad Med J 78:63-70, Garg, R.K.,et al, 2002
Clinical and Genetic Aspects of Distal Myopathies
Muscle Nerve 24:1440-1450, Saperstein,D.S.,et al, 2001
Infantile Neuroaxonal Dystrophy,Clinical Spectrum and Diagnostic Criteria
Neurol 52:1472-1478, Nardocci,N.,et al, 1999
Mucolipidosis Type IV; Characteristic MRI Findings
Neurol 51:565-569, Frei,K.P.,et al, 1998
Clinicopath Conf,Syndrome of Mitochondrial Encephalopathy,Lactic Acidosis,and Stroke-Like Episodes (MELAS),Case 39-1998
NEJM 339:1914-1923, , 1998
Congenital Muscular Dystrophy with Primary Laminin a2 (Merosin) Deficiency Presenting as Inflammatory Myopathy
Ann Neurol 40:782-791, Pegoraro,E.,et al, 1996
Clinicopathological Conference Metachromatic Leukodystrophy (juvenile type)
Case 7-1984, NEJM 310:445-4551984., , 1984
Benign Acute Childhood Myositis
Neurol 29:1068-1071, Henly,J.,et al, 1979
The Spectrum of Mild X-Linked Recessive Muscular Dystrophy
Arch Neurol 34:408, Ringer,S.P.,et al, 1977
Neonatal Ophthalmoplegia with Microfibers:A Reversible Myopathy
Neurol 27:974, Hanson,P.A.,et al, 1977
A Teenager with Chronic Meningitis-Does Occams Razor Apply?
Neurol 100:828-835, Havuluri,H.,et al, 2023
A 6-Year-Old Boy with Muscle Twitching
Neurol 96:e301-e304, Lewis, H.S.,et al, 2021
Acute Flaccid Myelitis: Cause, Diagnosis, and Management
Lancet 394:334-397, Murphy, O.C.,et al, 2021
A Teenager with Shortness of Breath and Difficulty Walking
Neurol 96:e2346-e2350, Liu, S.C.,et al, 2021
Hypotonia and Delayed Teeth Eruption in a 2-Year-Old Girl
Neurol 97:875-878, Dinov, D.,et al, 2021
Rapidly Progressive Gait Disorder and Cranial Nerves Involvement in a 9-year-old boy
Neurol 94:e330-e334, Lipp, A.,et al, 2020
Hopkins Syndrome
Neurol 94:e996-e997, Sgobbi de Souza, P. V.,et al, 2020
A 10-Year-Old Girl with Muscle Stiffness
Neurol 95:e773-e778, Prior, D.E. & Ghosh, P.S., 2020
A 14-Year-Old Boy with Acute Weakness, Parethesias, and Headache
Neurol 95:e1285-e1289, Seese, R.R.,et al, 2020
An Adolescent Girl Presenting with Worsening Vertigo, Headache, and Ataxia
Neurol 95:e1760-e1763, Brigham, E.,et al, 2020
Analysis of 70 patients with hydrocephalus due to cobalamin C deficiency
Neurol 95:e3129-e3137, He, R.,et al, 2020
Clinicopathologic conference, Vitamin D deficiency
NEJM 383:2462-2470, Case 39-2020, 2020
Strokelike Episodes in a Patient with Chronic Gait Abnormalities
JAMA Neurol 76:621-622, Santoro, J.D. & Chitnis, T., 2019
Childhood Primary Angiitis of the Central Nervous System
www.UptoDate.com, Dec, Twilt, M. & Benseler, S., 2019
Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
Neurol 90:e625-e631, Set, K.K.,et al, 2018
Nusinersen Versus Sham Control in Later-Onset Spinal Muscular Atrophy
NEJM 378:625-635, Mercuri, E.,et al, 2018
Antibody-Mediated Encephalitis
NEJM 378:840-851, Dalmau, J.,et al, 2018
Clinical Reasoning: A Teenager with Left Arm Weakness
Neurol 90:e907-e910, Al-Ghamdi, F.,et al, 2018
A 12-year-old girl with headache and change in mental status
Neurol 90:524-529, Patel, P.,et al, 2018
Glutamate Receptor D2 Serum Antibodies in Pediatric Opsoclonus Myoclonus Ataxia Syndrome
Neurol 91:e714-e723, Berridge, G.,et al, 2018
Pantothenate Kinase - Associated Neurodegeneration (PKAN)
Emedicine.Medscape Sept, Hanna, P.A. & Benbadis, S.R., 2018
Mystery Myelitis in Children
JAMA 320:2069, Kuehn, B., 2018
FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
Mol Genet Metab 125:281-291, Almannai, M.,et al, 2018
Wilson Disease
NIDDK Oct2018, , 2018
Pyruvate Dehydrogenase Deficiency (PDCD)
eMedicine.medscape,com, Aug, Frye,R.E.,et al, 2018
A Child with Delayed Motor Milestones and Ptosis
Neurol 88:e158-e163, Ghosh, P.S., 2017
Outcomes of Colorado Children with Acute Flaccid Myelitis at 1 Year
Neurol 89:129-137, Martin, J.A.,et al, 2017
A 15-month-old boy with Progressive Lethargy and Spasticity
Neurol 89:e135-e139, Zhang, R.,et al, 2017
Neuroimaging Changes in Menkes Disease, Part 1
AJNR 38:1850-1857, Manara, R.,et al, 2017
Histopathological Findings in Brain Tissue Obtained during Epilepsy Surgery
NEJM 377:1648-1656, Blumcke, I.,et al, 2017
Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy
NEJM 377:1713-1722,1786, Mendell, J.R.,et al, 2017