A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
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Hyperostosis Cranialis Interna
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Carbonic Anhydrase II Deficiency in 12 Families with Osteopetrosis with Renal Tubular Acidosis & Cerebral Calcification
NEJM 313:139-181, Sly,W.S.,et al, 1985
Sclerosteosis:Neurogenetic & Pathophysiologic Analysis of an American Kinship
Neurol 33:267-277, Stein,S.A.,et al, 1983
Two Cases of Van Buchem's Disease
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Clinicopathologic Conference, Facioscapulohumeral Muscular Dystrophy
NEJM 388:2379-2387, Case 19-2023, 2023
Multiple Cranial Nerve Gadolinium Enhancement in Norrie Disease
Ann Neurol 91:158-159, Jokela, M.,et al, 2022
Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
UptoDate 2022 Jan, Darras, B.T., 2022
Basa Ganglia Calcifications (Fahrs Syndrome): Related Conditions and Clinical Features
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Clinical and Neuroimaging Features in Gorlin-Goltz Syndrome
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Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016
Inherited Metabolic Diseases of the Nervous System, Infantile Niemann-Pick Disease
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Inherited Metabolic Diseases of the Nervous System, Globoid Cell Leukodystrophy (Krabbe Disease, Galactocerebrosidase)
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The Limbic-Girdle Muscular Dystrophies
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CNS Involvement at the Onset of Primary Hemophagocytic Lymphohistiocytosis
Neurol 78:1150-1156, Deiva,K.,et al, 2012
Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
UpToDate, Feb, Shovlin, C., 2011
Neurofibromatosis Type 2
Lancet 373:1974-1986, Astagiri,A.R.,et al, 2009
Update on Blepharospasm: Report from the BEBRF International Workshop
Neurol 71:1275-1282, Hallett,M.,et al, 2008
Dystonia
NEJM 355:818-829, Tarsy,D. &Simon,D.K., 2006
The Genetic Causes of Basal Ganglia Calcification, Dementia, and Bone Cysts
Neurol 64:1502-1507, Klunemann,H.H.,et al, 2005
Adrenoleukodystrophy
JAMA 294:3131-3134, Moser,H.W.,et al, 2005
Insights Into the Diagnosis and Treatment of Lysosomal Storage Diseases
Arch Neurol 60:322-328, Wegner,D.A.,et al, 2003
Long-term Effect of Bone-marrow Transplantation for Childhood-onset Cerebral X-linked Adrenoleukodystrophy
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Distal Myopathies:Clinical and Molecular Diagnosis and Classification
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X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
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Adult-Onset Neimann-Pick Type C Disease, Clinical, Biochemical and Genetic Study
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Clinical Variability in Adult-Onset Acid Maltase Deficiency:Report of Affected Sibs and Review of Literature
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Clinical Significance of Fetal Choroid Plexus Cysts
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Myotonic Dystrophy
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Central Nervous System Lesions in von Hippel-Lindau Syndrome
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Essential Tremor:Clinical Correlates in 350 Patients
Neurol 41:234-238, Lou,J.&Jankovic,J., 1991
A Genetic Study of Idiopathic Focal Dystonias
Ann Neurol 29:320-324, Waddy,H.M.,et al, 1991
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
Fucosidosis Revisited:A Review of 77 Patients
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Treatment of Late Infantile Metachromatic Leukodystrophy by Bone Marrow Transplantation
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A Familial Syndrome of Dystonia, Blepharospasm, and Pigmentary Retinopathy
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Neurofibromatosis
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Emery-Dreifuss Muscular Dystrophy:Disease Spectrum and Differential Diagnosis
Neuropediatrics 19:62-71, Voit,T.,et al, 1988
Central Core Disease, Clinical Features in 13 Patients
Medicine 66:389-396, Shuaid,A.,et al, 1987
Familial Recurrent Bell's Palsy with Ocular Motor Palsies
Neurol 37:1369-1371, Aldrich,M.S.,et al, 1987
Familial Amyloidosis with Cranial Neuropathy & Corneal Lattice Dystrophy
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Bone-Marrow Transplantation for Neurovisceral Storage Disorders
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Facioscapulohumeral Dystrophy, in Myology, Basic & Clinical
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Lipomembranous Polycystic Osteodysplasia (Brain, Bone, & Fat Disease)
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Lipomembranous Polycystic Osteodysplasia with Progressive Dementia
J Comput Assist Tomogr 5:580-582, Laasonen,E.M.,et al, 1981
Familial Recurrent Peripheral Facial Palsy
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Von Recklinghausen Neurofibromatosis
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