Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
NEJM 370:911-920, Zhou, Q.,et al, 2014
Insights Into the Diagnosis and Treatment of Lysosomal Storage Diseases
Arch Neurol 60:322-328, Wegner,D.A.,et al, 2003
Neurological Presentation of Fabry's Disease in a 52 Year Old Man
JNNP 73:340-342, Mohanraj,R.,et al, 2002
Spinocerebellar Degeneration:Hexosaminidase A & B Deficiency in Two Adult Sisters
Neurol 29:380-384, Oonk,J.G.W.,et al, 1979
Chronic Hexosaminidase A & B Deficiency
et al. , Ann Neurol 2:156977., Goldie,W.D., 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
A 59-Year-Old Female Patient with Urinary Dysfunction and Lightheadedness
Neurol 105:e214233, Bu,S.,et al, 2025
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 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
Ehlers-Danlos Syndromes
BMJ 366:I4966, Ghali, N.,et al, 2019
A 74-year-old Woman with Bilateral Foot Pain and a Palmar Rash
Neurol 88:e44-e50, Wynn, D.P.,et al, 2017
Intractable Epilepsy and Progressive Cognitive Decline in a Young Man
JAMA Neurol 74:737-740, Cohen, A.L.,et al, 2017
Neuronal Intranuclear Inclusion Disease Cases with Leukoencephalopathy Diagnosed via Skin Biopsy
JNNP 85:354-356, Sone, J.,et al, 2014
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
A 23-Year-Old Man With Seizures and Visual Deficit
Neurol 70:73-78, Boustany,R.-M.,et al, 2008
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
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
Carbamazepine Hypersensitivity Syndrome:Report of 4 Cases & Review of Literature
Medicine 74:144-151, DeVriese,A.S.P.,et al, 1995
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
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 & 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