The Phenotypic Continuum of ATP1A3-Related Disorders
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Heterozygous de-Novo Mutations in ATP1A3 in Patients with Alternating Hemiplegia of Childhood:A Whole-Exome Sequencing Gene-Identification Study
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High Doses of Deferiprone May Be Associated with Cerebellar Syndrome
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Clinical Spectrum of Ataxia-Telangiectasia in Adulthood
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Primary Episodic Ataxias:Diagnosis, Pathogenesis and Treatment
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Infantile Bilateral Striatal Necrosis Maps to Chromosome 19q
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Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
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Alternating Hemiplegia of Childhood:A Study of 10 Pts & Results of Flunarizine Treatment
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Alternating Hemiplegia of Childhood
J Pediatr 122:673-679, Bourgeois,M.,et al, 1993
Wolfram Syndrome:Evidence of a Diffuse Neurodegenerative Disease by Magnetic Resonance Imaging
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Acute Toxic Reaction to Carbamazepine:Clinical Effects and Serum Concentrations
J Pediatr 121:295-299, Tibballs,J., 1992
A Synd of Autosomal Dominant Alternating Hemiplegia:Mimicking Intractable Epilepsy; Chromosomal Studies; Physiol Investig
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Alternating Hemiplegia of Childhood
Int Pediatr 2:115-119, Aicardi,J., 1987
Alternating Hemiplegia in Infants:Report of Five Cases
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Infantile Nystagmus:A Prospec. Study of Spasmus Nutans, Congen. Nystag, & Unclass. Nystagmus of Infancy
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A 57-Year-Old Man With Chronic Gait Unsteadiness and Diminished Lower Extremity Sensation
Neurol 104:e213713, Rawat,R.,et al, 2025
A 35-Year-Old Woman with Personality Change and Gait Impairment
Neurol 104:e210252, Bernardes,C.,et al, 2024
Slowly rogressive Cerebellar Ataxia in a 55-Year-Old Female Patient
JAMA Neurol 80:107-108, Bernaola,M.T.,et al, 2023
Bloomy Rind Sign of Leptomeningeal Carcinomatosis
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A 48-Year-Old Woman Presenting with Vertigo, Ptosis, and Red Eyes
Neurol 98:678-683, Kim, K.T.,et al, 2022
A 29-Year-Old Man with Fevers and Rapidly Progressive Cranial Neuropathies
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Progressive Ataxia and Doenbeat Nystagmus in an Adult
JAMA Neurol 78:1018-10019, Fernandez, A.C.,et al, 2021
A 47-year-old Man with Rapidly Progressive Ataxia and Vitiligo
Neurol 94:e1664-e1669, Han, F.,et al, 2020
A 72-year-old Man with a Progressive Cognitive and Cerebellar Syndrome
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A 56-year-old woman with acute vertigo and diplopia
Neurol 90:748-752, Sharma, R.,et al, 2018
An Unusual Fundus Finding in a Teenage Girl
JAMA Neurol 75:1566-1567, Filho, F.M.R.,et al, 2018
Clinicopathologic Conference, Granulomatous Amebic Encephalitis and Sarcoidosis (Inactive)
NEJM 376:368-379, Case 3-2017, 2017
Early-Onset Head Titubation in a Child with Poretti-Boltshauser Syndrome
Neurol 88:1478-1479, Masson, R.,et al, 2017
Wernekink Commissure Syndrome Secondary to Bilateral Caudal Paramedian Midbrain Infarction Presenting with a Unique "Heart or V" Appearance Sign:Case Report and Review of the Literature
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A Young Woman with Isolated Upbeating Nystagmus
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Extraintestinal Manifestations of Coeliac Disease
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Viral Infections of the Nervous System, Chronic Meningitis, and Prior Diseases, Acute Cerebellitis (Acute Ataxia of Childhood)
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Viral Infections of the Nervous System, Chronic Meningitis, and Prior Diseases, Gertsmann-Straussler Schneinker Syndrome
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Infections of the Nervous System, (Bacterial, Fungal, Spirochetal, Parasitic) and Sarcoidosis, Whipple Disease
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Degenerative Diseases of the Nervous System, Machado-Joseph-Azorean Disease
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Clinicopathologic Conference, Glioblastonoma, WHO grade IV of IV, with Methylation of the MGMT Promoter
NEJM 366:2112-2120, Case 17-2012, 2012
Paraneoplastic Upbeat Nystagmus
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Downbeat Nystagmus: Aetiology and Comorbidity in 117 Patients
JNNP 79:672-677, Wagner,J.N.,et al, 2008
Spectrum of Neurological Syndromes Associated with Glutamic Acid Decarboxylase Antibodes: Diagnostic Clues for this Association
Brain 131:2553-2563, Saiz,A., et al, 2008
Auto-Immune Cerebellar Ataxia with Anti-GAD Antibodies Accompanied by De Novo Late-Onset Type 1 Diabetes Mellitus
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Neuro-Ophthalmologic Manifestations of Paraneoplastic Syndromes
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Asymmetric Cerebellar Ataxia and Limbic Encephalitis as a Presenting Feature of Primary Sjogrens Syndrome
J Neurol 254:1609-1611, Collison,K. and Rees,J., 2007
Vestibular Neuritis
NEJM 348:1027-1032, Baloh,R.W., 2003
Nodulus Infarction Mimicking Acute Peripheral Vestibulopathy
Neurol 60:1700-1702, Lee,H.,et al, 2003
Autoantibodies to Glutamic Acid Decarboxylase in Downbeat Nystagmus
JNNP 74:998-999, Antonini,G.,et al, 2003
Clinicopath Conf, Primary Lymphoma of CNS
NEJM 346:1009-1015, Case 10-2002, 2002
Cerebellar Ataxia With Anti-Glutamic Acid Decarboxylase Antibodies
Arch Neurol 58:225-230, Honorat,J.,et al, 2001
Ataxia Associated with Hashimotos Disease: Progressive Non-Familial Adult Onset Cerebellar Degeneration with Autoimmune Thyroiditis
JNNP 71:81-87, Selim, M. and Drachman, D.A., 2001
Neuro-Ophthalmologic Manifestations of a paraneoplastic Syndrome and Testicular Carcinoma
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