The Phenotypic Continuum of ATP1A3-Related Disorders
Neurol 99:e1511-e1526, Vezyroglou,A., et al, 2022
When MRI is a Clue in Episodic Ataxia
Neurol 93:e2074-e2075, Dhawan, S.R.,et al, 2019
Paraoxysmal Tonic Upgaze in Children, Three Case Reports and a Review of the Literature
Pediatr Emer Care 35:e67-e69, Kartal,A., 2019
Multimodal Imaging of Reversible Cerebral Vasoconstriction Syndrome: A Series of 6 Cases
AJNR 33:1403-1410, Marder, C.P.,et al, 2012
GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
Neurol 77:1287-1294, Prust, M.,et al, 2011
Age and High-Dose Methotrexate are Associated to Clinical Acute Encephalopathy in FRALLE 93 Trial for Acute Lymphoblastic Leukemia in Children
Leukemia 21:238-247, Dufourg, M.N.,et al, 2007
Primary Episodic Ataxias:Diagnosis, Pathogenesis and Treatment
Brain 130:2484-2493, Jen, J.C.,et al, 2007
Clinical Spectrum of Episodic Ataxia Type 2
Neurol 62:17-22, Jen,J.,et al, 2004
Rotational Vertebral Artery Occlusion Syndrome with Vertigo Due to "Labyrinthine Excitation"
Neurol 54:1376-1379, Strupp,M.,et al, 2000
Inborn Errors of Metabolism as a Cause of Neurological Disease in Adults: An Approach to Investigation
JNNP 69: 5-12, Gray,R.G.F. et al, 2000
Slater Revisited:6 Year Follow Up Study of Pts with Medically Unexplained Motor Symptoms
BMJ 316:582-586, 5641998., Crimlisk,H.L.,et al, 1998
Neurological Channelopathies, Dysfunctional Ion Channels May Cause Many Neurological Diseases
BMJ 316:1104-1105, Rose,M.R., 1998
Ion Channels and Neurological Disease:DNA Based Diagnosis is Now Possible,and Ion Channels May be Important in Common Paroxysmal Disorders
JNNP 65:427-431, Hanna,M.G.,et al, 1998
The Inherited Ataxias and the New Genetics
JNNP 61:327-332, Hammans,S.R., 1996
Neurologic Manifestations of Giant Cell Arteritis
Am J Med 89:67-72, Reich,K.A.,et al, 1990
Paroxysmal Cerebellar Ataxia
Aust NZ J Med 19:113-117, Feeney,G.F.&Boyle,R.S., 1989
Acetazolamide-Responsive Episodic Ataxia Syndrome
Neurol 33:1212-1214, Zasorin,N.L.,et al, 1983
Paroxysmal Symptoms as the First Manifestations of Multiple Sclerosis
JNNP 43:296-304, Twomey,J.A.,et al, 1980
Familial Periodic Ataxia
Arch Neurol 36:568-569, Donat,J.R.,et al, 1979
Hereditary Paroxysmal Ataxia:Response to Acetazolamide
Neurol 28:1259-1264, Griggs,R.C.,et al, 1978
Neuroimaging Features of Biotinidase Deficiency
AJNR 44:328-333, Biswas,A.,et al, 2023
Clinicopathologic Conference, Functional Vitamin B12 Deficiency from Use of Nitrous Oxide
NEJM 388:1893-1900, Case 15-2023, 2023
A 47-Year-Old Man With an Upper Respiratory Infection, Acute Confusion, Dysarthria, and Ataxia
Neurol 100:978-983, Kubicki,K.,et al, 2023
A 48-Year-Old Man With Spasticity and Progressive Ataxia
Neurol 101:e1747-e1752, Vizcarra,J.A.,et al, 2023
More Than a Little Unsteady
NEJM 387:e9, Kraft, A.W.,et al, 2022
Miller Fisher Syndrome and Acute Motor and Sensory Axonal Neuropathy (AMSAN) Variant Guillain-Barre Overlap Syndrome (MFS/AMSAN-GBS) After Upper Respiratory Tract Infection (URTI)
Acta Sci Clin Case Reports 3:19-24, Chau,T.C. & Muhamad,N.A.N., 2022
Severe Vitamin B12 Deficiency Presenting as Pancytpenia, Hemolytic Anemia, and Parasthesia:Could Your B12 Be Any Lower?
Cureus doi:10.7759/cureus 29225, Pelling,M.M., et al, 2022
A Triad of Tremor, Ataxia, and Cognitive Impairment
Neurol 96:e1802-e1803, Au, L.W.C.,et al, 2021
Clinicopathologic Conference, Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome
NEJM 385:165-175, Case 20-2021, 2021
Progressive Ataxia and Doenbeat Nystagmus in an Adult
JAMA Neurol 78:1018-10019, Fernandez, A.C.,et al, 2021
Hypotonia and Delayed Teeth Eruption in a 2-Year-Old Girl
Neurol 97:875-878, Dinov, D.,et al, 2021
A 28-Year-Old Woman with Vision Loss and an Unusual Gait
Neurol 97:e1860-e1865, Dohlman, J.C.,et al, 2021
Immunocompetent Patient with Multiple Cranial Nerve Palsies, Ataxia, and Cognitive Decline
Neurol 94:e225-e229, Nigam, M.,et al, 2020
A 47-year-old Man with Rapidly Progressive Ataxia and Vitiligo
Neurol 94:e1664-e1669, Han, F.,et al, 2020
A 45-Year-Old Man with Progressive Insomia and Psychiatric and Motor Symptoms
Neurol 94:e1213-e1218, Lima, J.E.E.,et al, 2020
A 72-year-old Man with a Progressive Cognitive and Cerebellar Syndrome
Neurol 95:e2707-e2710, Lad, M. & Griffiths, T.D., 2020
Challenging Diagnosis of Gerstmann-Straussler-Scheinker Disease
Neurol 92:101-103, Kang, M.J.,et al, 2019
Toxic Diffuse Isolated Cerebellar Edema from Over-the-Counter Health Supplements
Neurol 92:965-966, Kim, D.D.,et al, 2019
Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement
AJNR 40:903-907, Hartin, I.,et al, 2019
Relapsing-Remitting Severe Bickerstaffs Brainstem Encephalitis
BMJ 394:684, Tyrakowska, Z.,et al, 2019
Neurosyphilis
NEJM 381:1358-1363, Ropper, A.H.,et al, 2019
A 55-Year-Old Woman Presenting with Ataxia and Numbness 1 Year After Ileum Resection
Neurol 93:675-679, Cassano, V.,et al, 2019
Clinicopathologic Conference, Creutzfeldt-Jakob Disease
NEJM 381:1569-1578, Case 32-2019, 2019
Progressive Neurological Impairment and an Enhancing Brainstem Lesion in a Middle-Aged Man
JAMA Neurol 76:1397-1398, Gupta, S.,et al, 2019
GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy
Ann Neurol 86:962-968,809, Okubo, M.,et al, 2019
Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
Lancet Neurol 18:1136-1146, Shribman,S.,et al, 2019
Recurrent Dysarthria and Ataxia in a Young Girl
JAMA Neurol 75:125-126, Romba, M.,et al, 2018
Neuronal Intranuclear Inclusion Disease Showing Intranuclear Inclusions in Renal Biopsy 12 Years Earlier
Neurol 91:884-886, Motoki, M.,et al, 2018
Pyruvate Dehydrogenase Deficiency (PDCD)
eMedicine.medscape,com, Aug, Frye,R.E.,et al, 2018