Skin biopsy is useful for the antemortem diagnosis of neuronal intranuclear inclusion disease
Neurol 76:1372-1376, Sone, J.,et al, 2011
A 23-Year-Old Man With Seizures and Visual Deficit
Neurol 70:73-78, Boustany,R.-M.,et al, 2008
A 59-Year-Old Female Patient with Urinary Dysfunction and Lightheadedness
Neurol 105:e214233, Bu,S.,et al, 2025
Neuro-Sweet Disease Presenting as Ischemic Stroke and Aseptic Meningitis
Neurol 91:e2197-e2199, Das, A.S.,et al, 2018
Lafora Periodic Acid-Schiff Inclusion Bodies
Neurol 85:e130-e131, de Assis Franco, I.,et al, 2015
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
Neurological Presentation of Fabry's Disease in a 52 Year Old Man
JNNP 73:340-342, Mohanraj,R.,et al, 2002
Infantile Neuroaxonal Dystrophy,Clinical Spectrum and Diagnostic Criteria
Neurol 52:1472-1478, Nardocci,N.,et al, 1999
Intravascular Lymphomatosis:A Clinicopathological Study of Three Cases
J Cancer Res Clin Oncol 120:164-168, Liszka,U.,et al, 1994
Clinical Pathological Conference
Adrenoleukodystrophy, with Peripheral Neuropathy, Case Record 18-1979, NEJM 300:1037-104579., , 1979
Spinocerebellar Degeneration:Hexosaminidase A & B Deficiency in Two Adult Sisters
Neurol 29:380-384, Oonk,J.G.W.,et al, 1979
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
Unveiling the Clinical and Imaging Signatures of Intravascular Lymphoma of the Central Nervous System:A Multicentric Cohort Study
Ann Neurol 97:435-448, Berthet,E.,et al, 2025
Clinicopathologic Conference, Systemic Immunoglobulin Light-Chain (AL) Amyloidosis
NEJM 389:166-175, Case 21-2023, 2023
A 62-Year-Old Woman with Transient Vision Loss
Neurol 101:e1097-e1103, Silva,L.M.T.,et al, 2023
A Woman With Multifocal Ischemic Strokes and Progressive Cognitive Impairment Due to Intravascular Lymphoma
Stroke 54:e488-e451, Stamm,B., et al, 2023
Brain and Skin Involvement in Erdheim-Chester Disease
Neurol 96:e1590-e1592, Budhram, A.,et al, 2021
A Triad of Tremor, Ataxia, and Cognitive Impairment
Neurol 96:e1802-e1803, Au, L.W.C.,et al, 2021
A Brewing Back Pain
NEJM 385:66-72, Pischel, L.,et al, 2021
A 65-Year-Old Woman with Tremor
Neurol 97:e1257-e1261, Ye, J.,et al, 2021
A 70-year-old Man with Rapid Stepwise Paraparesis and Sensory Loss
Neurol 94:e651-e655, Krause, M.A.,et al, 2020
Neuronal Intranuclear Inclusion Disease Showing Intranuclear Inclusions in Renal Biopsy 12 Years Earlier
Neurol 91:884-886, Motoki, M.,et al, 2018
Intractable Epilepsy and Progressive Cognitive Decline in a Young Man
JAMA Neurol 74:737-740, Cohen, A.L.,et al, 2017
Neurocutaneous Melanosis with Diffuse Leptomeningeal Malignant Melanoma in an Adult
Neurol 86:e75-e79, Bhatia, R.,et al, 2016
Small Fiber Neuropathy in Fabry Disease:A Review of Pathophysiology and Treatment
JIEMS 4:1-5, Politeri,J.M.,et al, 2016
Disseminated Varicella Zoster Virus Encephalitis
Lancet 384:1698, Chai, W. & Gong-Ruey Ho, M., 2014
Clinical Manifestations, Pathologic Features, and Diagnosis of Langerhans Cell Histiocytosis
UptoDate Oct. 2014, McClain, K.L., 2014
Neuro-Sweets Disease
Pract Neurol 12:126-130, Maxwel,G.,et al, 2012
Random skin biopsy and bone marrow biopsy for diagnosis of intravascular large B cell lymphoma
Ann Hematol 90:417-421, Matsue, K.,et al, 2011
Diagnosis of intravascular lymphoma: usefulness of random skin biopsies
Brain Neurol 63:451-458, Nakano, N.M., 2011
Neurological disturbances caused by intravascular lymphomatosis
Brain Nerve 63:443-449, Mizutani, T., 2011
Clinicopath Conf, Neuro-Behcets Disease
NEJM 360:2341-2351, Case 17-2009, 2009
Small Fiber Neuropathy: A Burning Problem
Cleve Clin J Med 76:297-305, Tavee, J. & Zhou, L., 2009
Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts & Leukoencephalopathy (CADASIL)
UpToDate (www.uptodate.com) Aug 21, Dichgans,M.,et al., 2007
Clinicopath Conf., Degoss Disease
NEJM 355:2575-2584, Case 38-2006, 2006
Intravascular Lymphoma: Magnetic Resonance Imaging Correlates of Disease Dynamics Within the Central Nervous System
JNNP 76:540-544, Baehring,J.M.,et al, 2005
Silent Infarcts Demonstrated by Diffusion-Weighted MRI in CADASIL
Eur Neurol 49: 178-180, Moon,S.Y.,et al, 2003
Clinicopath Conf:Carcinoma of Stomach with Leptomeningeal Carcinomatosis, DIC, Cortico-subcortical Infarcts
NEJM 340:1099-1106, Case 10-1999, 1999
Angiotropic Large-Cell Lymphoma with Peripheral Nerve & Skeletal Muscle Involvement:Early Diagnosis & Treatment
Neurol 47:1009-1011, Levin,K.H.&Lutz,G., 1996
Sneedon's Syndrome:Diagnosis by Skin Biopsy and MRI in 17 Patients
Stroke 24:685-690, Stockhammer,G.,et al, 1993
Adult Polyglucosan Body Disease:The Diagnostic Value of Axilla Skin Biopsy
Ann Neurol 29:448-451, Busard,H.L.S.M.,et al, 1991
Clinicopath Conf
Acute Febrile Neutrophilic Dermatosis (Sweet's Syndrome) , Case 30-1990, NEJM 323:254-2630., , 1990
Clinicopath Conf (Juvenile) Periarteritis Nodosa (Kawasaki Syndrome)
with Involvement of Subcutaneous ( & Cerebral) Arteries, Case 43-1986, NEJM 315:1143-1154, , 1986
Lipomembranous Polycystic Osteodysplasia (Brain, Bone, & Fat Disease)
Neurol 33:81-86, Bird,T.D.,et al, 1983
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
Clinical Pathological Conference
Neuronal Veroid-lipfuscinosis, Juvenile Variant, (Batten's disease) , NEJM 299:189., , 1978