A 65-Year-Old Woman with Isolated Macroglossia as the Initial Presentation of a Rare Disease
Neurol 103:e210070, Lara,C.,et al, 2024
Adult Patient Presenting with Spine Pain Following a Motor Vehicle Accident
Neurol 100:1025-1031, Sharma,V. & Soto,O, 2023
Long-Term Benefit of Enzyme Replacement Therapy in Pompe Disease
Neurol 89:2365-2373, Kuperus, E.,et al, 2017
Bright Tongue Sign in Pompe Disease
Neurol 86:401, Karam, C., 2016
A 38-Year-Old Man with Respiratory Failure and Progressive Leg Weakness
Neurol 86:e190-e194, McIntosh, P. & Karam, C., 2016
"Im fine; Im just waiting for my disease" The New and Growing Class of Presymptomatic Patients
Neurol 77:522-523, Kwon, J.M.et al, 2011
Glycogen-Storage Disease Type II
eMedicine, May 2, Ibrahim,J. &McGovern,M., 2006
Genotype-Phenotype Correlation in Adult-Onset Acid Maltase Deficiency
Ann Neurol 38:450-454, Wokke,J.H.J.,et al, 1995
Clinical Variability in Adult-Onset Acid Maltase Deficiency:Report of Affected Sibs and Review of Literature
Medicine 74:131-135, Felice,K.J.,et al, 1995
Acid Maltase Deficiency
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The Adult Form of Acid Maltase (a-1, 4-Glucosidase) Deficiency
Ann Neurol 1:276, Karpati,G.,et al, 1977
The Ultrastructure of the Sural Nerve in Pompe's Disease
Ann Neurol 2:111, Goebel,H.H.,et al, 1977
The Floppy Infant: Evaluation of Hypotonia
Pediatrics in Review 30:e66-e76, Peredo, D. & Hannibal M., 2009
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002
Protein C Deficiency Related to Valproic Acid Therapy: A Possible Association with Childhood Stroke
J Pediatr 137:714-718, Gruppo,R.,et al, 2000
Withdrawal of Antiepileptic Medication in Children-Effects of Congit Funct Multicenter Holmfrid Study
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Angelman Syndrome: Clinical Profile
J Child Neurol 7:270-280, Zori,R.T.,et al, 1992
Neuro Complica of Coeliac Disease & Trop Sprue, Neurology of GI Disease
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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024
A 51-Year-Old Woman with Abnormal Corups Callosum Signal
JAMA Neurol 81:192-193, Xie,N. & Sun, Q, 2024
Vitamin B12 Deficiency:NICE Guideline Summary
BMJ 385:q1019, q1262, Sands,T.,et al, 2024
Manganese Accumulation in the Brain
NEJM 389:1320, Sherman,S.V., 2023
Clinicopathologic Conference, Functional Vitamin B12 Deficiency from Use of Nitrous Oxide
NEJM 388:1893-1900, Case 15-2023, 2023
Severe Hippocampal Atrophy in a Patient with Autoimmune Glial Fibrillary Acidic Protein Astrocytopathy
JAMA Neurol 80:642-643, Bartels,F.,et al, 2023
A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
Neurol 100:206-212, Stamm,B.,et al, 2023
Updates on Sturge-Weber Syndrome
Stroke 53:3769-3779, Yeom,S.E.&Comi,A.M., 2022
Clinicopathologic Conference, Normal Pressure Hydrocephalus
NEJM 384:1350-1358, Case 10-2021, 2021
Why cant I see in the dark?
BMJ 373:m1573, Khan, S.,et al, 2021
Initial Management of Seizure in Adults
NEJM 385:251-263, Smith, P.E.M., 2021
Clinicopathologic Conference, Pernicious Anemia (Vitamin B12 Deficiency)
NEJM 380:665-674, Case 5-2019, 2019
A Teenager with Persistent Headache
Neurol 92:e1526-e1531, Hu, Y.,et al, 2019
A Patient with Psychiatric Illness and Multiple Hemorrhages
JAMA 322:2437-2438, Van Baalen, E.,et al, 2019
Progressive Weakness and Memory Impairment in a Middle-aged Man
JAMA 320:197-198, DeFilippis, E.M.,et al, 2018
Clinicopathologic Conference, Vitamin C Deficiency (Scurvey), Vitamin B6 & Folate Deficiencies
NEJM 379:282-289, Case 22-2018, 2018
Patent Foramen Ovale Closure, Antiplatelet Therapy or Anticoagulation Therapy Alone for Management of Cryptogenic Stroke?
BMJ 362:k2515, Kuijpers, T.,et al, 2018
Antibody-Mediated Encephalitis
NEJM 378:840-851, Dalmau, J.,et al, 2018
Diagnosis and Management of the Antiphospholipid Syndrome
NEJM 378:2010-2021, Garcia, D. & Erkan, D., 2018
Clinicopathologic Conference, Copper Deficiency Myelopathy
NEJM 377:1977-1984, Case 35-2017, 2017
Paraneoplastic and Autoimmune Encephalitis
UptoDate July, Dalmau, J.,et al, 2017
Primary Angiitis of the Central Nervous System
Stroke 48:1248-1255, Boulouis, G.,et al, 2017
Intractable Epilepsy and Progressive Cognitive Decline in a Young Man
JAMA Neurol 74:737-740, Cohen, A.L.,et al, 2017
Pregnancy, Hormonal Treatments for Infertility, Contraception, and Menopause in Women After Ischemic Stroke
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Clinopathologic Conference, Celiac Disease
NEJM 374:1875-1883, Case 14-2016, 2016
Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016
A Young Man with Progressive Language Difficulty and Early-Onset Dementia
JAMA Neurol 73:595-599, Botha, H.,et al, 2016
An 11-year-old Boy with Language Disorder and Epilepsy
Neurol 86:e48-e53, Dong, L. & Zhou, X., 2016
Molybdenum Cofactor Deficiency
Neurol 85:e175-e178, Nagappa, M.,et al, 2015
Extraintestinal Manifestations of Coeliac Disease
Nat Rev Gastroenterol Hepatol 12:561-571, Leffler, D.A.,et al, 2015