Intractable Epilepsy and Progressive Cognitive Decline in a Young Man
JAMA Neurol 74:737-740, Cohen, A.L.,et al, 2017
Clinicopathologic Conference, Dermatomyositis. Malignant Atrophic Papulosis (Degoss Disease), Involving the Skin and Gastrointestinal Tract
NEJM 370:2327-2337, Case 18-2014, 2014
Ehlers-Danlos Syndromes
BMJ 366:I4966, Ghali, N.,et al, 2019
A 23-Year-Old Man With Seizures and Visual Deficit
Neurol 70:73-78, Boustany,R.-M.,et al, 2008
Insights Into the Diagnosis and Treatment of Lysosomal Storage Diseases
Arch Neurol 60:322-328, Wegner,D.A.,et al, 2003
Clinicopath Conf:Carcinoma of Stomach with Leptomeningeal Carcinomatosis, DIC, Cortico-subcortical Infarcts
NEJM 340:1099-1106, Case 10-1999, 1999
Mucolipidosis Type IV; Characteristic MRI Findings
Neurol 51:565-569, Frei,K.P.,et al, 1998
Diagnosis of Merosin (Laminin-2) Deficient Congenital Muscular Dystrophy by Skin Biopsy
Lancet 347:582-584, Sewry,C.A.,et al, 1996
Clinicopath Conf
Acute Febrile Neutrophilic Dermatosis (Sweet's Syndrome) , Case 30-1990, NEJM 323:254-2630., , 1990
Cholesterol Crystal Embolization:A Review of 221 Cases in the English Literature
Angiology 38:769-784, Fine,M.J.,et al, 1987
Ultrastructural, Neurological, & Glycosaminoglycan Abnormalities in Lowe's Syndrome
Ann Neurol 16:40-49, Wisniewski,K.E.,et al, 1984
Lipomembranous Polycystic Osteodysplasia (Brain, Bone, & Fat Disease)
Neurol 33:81-86, Bird,T.D.,et al, 1983
Clinical & Extraneural Histologic Diagnosis of Neuronal Ceroidlipofuscinosis
Neurol 28:1008-1012, Miley,C.E.III.,et al, 1978
Reversible Cerebellocerebral Disorder in Primary Hemochromatosis
Arch Neurol 34:123, Singh,N.,et al, 1977
Neurologic Manifestations of Progressive Systemic Sclerosis, 1972
Nebraska Med J 58:106, Aita,J.A., 1973
Clinicopathologic Conference, Systemic Immunoglobulin Light-Chain (AL) Amyloidosis
NEJM 389:166-175, Case 21-2023, 2023
A 31-year-Old Man with Bilateral Limited Mobility of Joints
JAMA Neurol 79:1083-1084, Wang, Z.,et al, 2022
A Brewing Back Pain
NEJM 385:66-72, Pischel, L.,et al, 2021
Neuronal Intranuclear Inclusion Disease Cases with Leukoencephalopathy Diagnosed via Skin Biopsy
JNNP 85:354-356, Sone, J.,et al, 2014
Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
NEJM 370:911-920, Zhou, Q.,et al, 2014
Clinicopathologic Conference, Rabies Encephalitis
NEJM 368:172-180, Case 1-2013, 2013
Clinicopathologic Conference, Rocky Mountain Spotted Fever
NEJM 366:1434-1443, Case 11-2011, 2012
Skin biopsy is useful for the antemortem diagnosis of neuronal intranuclear inclusion disease
Neurol 76:1372-1376, Sone, J.,et al, 2011
(-Synuclein Accumulation in Skin Nerve Fibers Revealed by Skin Biopsy in Pure Autonomic Failure
Neurol 74:608-610,536, Shishido,T.,et al, 2010
Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts & Leukoencephalopathy (CADASIL)
UpToDate (www.uptodate.com) Aug 21, Dichgans,M.,et al., 2007
Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL)
Pract Neurology 4:50-55, Razvi,S.S.M. &Muir,K.W., 2004
De Novo Mutation in the Notch3 Gene Causing CADASIL
Ann Neurol 47:388-391, Joutel,A.,et al, 2000
Infantile Neuroaxonal Dystrophy,Clinical Spectrum and Diagnostic Criteria
Neurol 52:1472-1478, Nardocci,N.,et al, 1999
Angiotropic Large-Cell Lymphoma with Peripheral Nerve & Skeletal Muscle Involvement:Early Diagnosis & Treatment
Neurol 47:1009-1011, Levin,K.H.&Lutz,G., 1996
Carbamazepine Hypersensitivity Syndrome:Report of 4 Cases & Review of Literature
Medicine 74:144-151, DeVriese,A.S.P.,et al, 1995
Clinicopath Conf
Eosinophilic Fasciitis, Case Study 4-1990, NEJM 322:252-261, 93190., , 1990
Development of Diffuse Fasciitis with Eosinophilia During L-Tryptophan Treatment:Elevated Type I Collagen Gene
Ann Int Med 112:344-351, Varga,J.,et al, 1990
Clinicopath Conf
Churg-Strauss Phenomena with Mononeuritis Multiplex, Case Record 38-1990, NEJM 323:812-822990., , 1990
Cholesterol Embolism:Experience with 22 Histologically Proven Cases
Surgery 105:737-746, Dahlberg,P.J.,et al, 1989
Livedo Reticularis & Cerebrovascular Lesions (Sneddon's Syndrome) , Clin, Radiolog & Path Features in Eight Cases
Brain 106:965-979, Rebollo,M.,et al, 1983
Hypomelanosis of Ito (incontinentia pigmenti achromians) :Macrocephaly & Gray Matter Heterotopias
Neurol 32:1013-1016, Ross,D.L.,et al, 1982
Pseudoxanthoma Elasticum:A Review of Neurological Complications
Ann Neurol 4:18, Iqbal,A.,et al, 1978
Clinical Pathological Conference
Atherosclerosis, Generalized, Severe with Atheromatous Emboli to Kidneys, Skin & Brain, Case Record, 0-1977297:1337,1977., 1977
Chronic Hexosaminidase A & B Deficiency
et al. , Ann Neurol 2:156977., Goldie,W.D., 1977
Clinical Pathological Conference
Dermatomyositis, Case Record, 33-1977, NEJM 297:37877., , 1977
Recurrent Aseptic Meningitis in an Elderly Male, Unusual Prodromal Manifestation of SLE
JAMA 235:1142, Finelli,P.F.,et al, 1975