Adrenoleukodystrophy
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X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
JNNP 63:4-14, vanGeel,B.M.,et al, 1997
Brain MRI and Electrophysiologic Abnormalities in Preclinical and Clinical Adrenomyeloneuropathy
Neurol 42:85-91, Aubourg,P.,et al, 1992
Adrenomyeloneuropathy Presenting as Addison's Disease in Childhood
NEJM 322:13-16, 54-551990., Sadeghi-Nejad,A.&Senior,B., 1990
Adrenoleukodystrophy
JAMA 262:1504-1506, Ladenson,P.W., 1989
Adrenoleukodystrophy:Survey of 303 Cases:Biochemistry, Diagnosis, & Therapy
Ann Neurol 16:628-641, Moser,H.W.,et al, 1984
Familial X-linked Addison Dise. as an Expression of Adrenoleukodystr. :C26 Fatty Acid in Cult. Skin Fibroblasts
Neurol 32:543-547, O'Neill,B.P.,et al, 1982
The Adrenoleukomyeloneuropathy Complex:Expression in Four Generations
Neurol 31:151-156, O'Neill,B.P.,et al, 1981
Abnormalties In Cultured Muscle & Periphral Nerve Of A Patient With Adrenomyeloneuropathy
NEJM 301:588-590, Askanas,V.,et al, 1979
Adrenomyeloneuropathy:A Probable Variant of Adrenoleukodystrophy
Neurol 27:1107-1113, Griffin,J.W.,et al, 1977
Progressive Spastic Paraparesis & Adrenal Insufficiency
Arch Neurol 33:678, Gumbinas,M.,et al, 1976
A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
Neurol 100:206-212, Stamm,B.,et al, 2023
Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
NEJM 385:1317-1325, Case 30-2021, 2021
Muscular Dystrophies
Lancet 394:2025-2038, Mercuri, E.,et al, 2019
A Curable Myopathy Manifesting as Exercixe Intolerance and Respirtory Failure
Neurol 91:187-190, Silva,A.M.S.,et al, 2018
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
A Neonate with Micrognathia and Hypotonia
Neurol 86:e80-e84, Vawter-Lee, M.M.,et al, 2016
A 44-Year-Old Man with Eye, Kidney, and Brain Dysfunction
Ann Neurol 79:507-519, Vodopivec, I.,et al, 2016
Mystery Case: A 21-Year-Old Man with Visual Loss Following Marijuana Use
Neurol 84:e165-e169, Whitlock, J.B.,et al, 2015
Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
NEJM 370:911-920, Zhou, Q.,et al, 2014
A 52-year-old Woman with Progressive Proximal Weakness
Neurol 83:e106-e109, Enduri, S.,et al, 2014
Clinical Manifestations and Diagnosis of Bicuspid Aortic Valve in Adults
UpToDate Nov, Braverman, D.C., 2014
Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
Brain 134:3326-3332, Garone, C.,et al, 2011
Prevalence of Fabry Disease in Patients with Cryptogenic Stroke: A Prospective Study
Lancet 366:1794-1796,1754, Rolfs,A.,et al, 2006
Glycogen-Storage Disease Type II
eMedicine, May 2, Ibrahim,J. &McGovern,M., 2006
Multiminicore Disease in a Family Susceptible to Malignant Hyperthermia: Histology, In Vitro Contracture Tests, and Genetic Characterization
Arch Neurol 61:106-113, Guis,S.,et al, 2004
Wolfram Syndrome:Hereditary Diabetes Mellitus with Brainstem and Optic Atrophy
Ann Neurol 39:352-360, Scolding,N.J.,et al, 1996
Cerebrovascular Complications of Fabry's Disease
Ann Neurol 40:8-17, Mitsias,P.&Levine,S.R., 1996
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
Neurodegeneration and Diabetes:UK Nationwide Study of Wolfram (DIDMOAD) Syndrome
Lancet 1458-1463, Barrett,T.G.,et al, 1995
New Research in Tuberous Sclerosis, Probably More Common with More Adult Complications
BMJ 304:1647-1648, Mitchell,S.&Bradbeer,C., 1992
Brief Report:Autosomal Dominant Familial Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia
NEJM 327:1069-1074, Bilous,R.W.,et al, 1992
Clinical & Laboratory Findings in the Oculocerebrorenal Syndrome of Lowe, with Special Ref to Growth & Renal Function
NEJM 324:1318-1325, Charnas,L.R.,et al, 1991
Neurologic Crises in Hereditary Tyrosinemia
NEJM 322:432-437, Mitchell,G.,et al, 1990
Anderson-Fabry Disease
Editorial, Lancet 336:24-251990., , 1990
Acute Intermittent Porphyria
JAMA 264:1290-1293, 1315-13161990., Sack,G.H., 1990
Ethanol and the Nervous System
NEJM 321:442-454, Charness,M.E.,et al, 1989
Rett Syndrome:Natural History and Management
Pediatrics 82:1-10, Moeschler,J.B.,et al, 1988
Cervicomedullary Compression in Young Patients with Achondroplasia:Value of Neurologic & Respiratory Eval
J Pediatr 110:522-530, Reid,C.S.,et al, 1987
Phosphorylase Deficiency
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Acid Maltase Deficiency
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Clinicopathological Conference
Case 2-1984, Fabry's Disease, NEJM 310:106-114984., , 1984
The Neuropathology of Glycine Encephalopathy:Five Cases with Immunohistochemical & Ultrastructural Observations
Neurol 32:975-985, Agamanolis,D.P.,et al, 1982
Familial Fatal Parkinsonism with Alveolar Hypoventilation & Mental Depression
Ann Neurol 6:523-531, Purdy,A.,et al, 1979
Clinical Syndromes of Myasthenia in Infancy & Childhood
Arch Neurol 35:97, Fenichel,G.M., 1978
Familial Hypopituitarism with Large Sella Turcica
NEJM 298:698, Parks,J.S.,et al, 1978
Obstructive Sleep Apnea in Family Members
NEJM 299:969-973, Strohl,K.P.,et al, 1978
Neurological Manifestations of Fabry Disease in Female Carriers
Ann Neurol 4:537-540, Bird,T.D.,et al, 1978