Multiple-System Atrophy
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Wolfram Syndrome:Evidence of a Diffuse Neurodegenerative Disease by Magnetic Resonance Imaging
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A 60-Year-Old Man with Weakness and Gait Dysfunction
JAMA Neurol 82:305-306, Jones,F.J.S.,et al, 2025
Stridor in Multiple System Atrophy
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Atypical Parkinsonian Syndromes: A General Neurologists Perspective
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Neuroimaging Changes in Menkes Disease, Part 1
AJNR 38:1850-1857, Manara, R.,et al, 2017
Intrathecal 2-hydroxypropyl-�-cyclodextrin Decreases Neurological Disease Progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1-2 trial
Lancet 390:1758-1768, Ory, D.S.,et al, 2017
Clinicopathologic Conference, Frontotemporal Lobar Degeneration with Tau-positive Inclusions (Picks Disease Subtype) Due to a Gly389Arg MAPT Mutation, Resulting in the Behavioral Variant of Frontotemporal Dementia with Parkinsonism
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Differential Diagnosis of Bilateral Abnormalities of the Basal Ganglia and Thalamus
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Skin biopsy is useful for the antemortem diagnosis of neuronal intranuclear inclusion disease
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Huntingtons Disease
BMJ 341:34-40, Novak,M.J. &Tabrizi,S.J., 2010
Rapidly Progressive Neurodegenerative Dementias
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Fragile X-Associated Tremor/Ataxia Syndrome: An Aging Face of the Fragile X Gene
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Rapidly Progressive Dementia
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Second Consensus Statement on the Diagnosis of Multiple System Atrophy
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Safety and Tolerability of Gene Therapy With an Adeno-Associated Virus (AAV) Borne GAD gene for Parkinsons Disease: An Open Label, Phase I Trial
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Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
NEJM 348:33-40, Hayflick,S.J.,et al, 2003
Mitochondrial Respiratory-Chain Diseases
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Recessive Ataxia With Ocular Apraxia
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Headache and CNS White Matter Abnormalities Associated with Gluten Sensitivity
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Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
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A New Variant of Creutzfeldt-Jakob Disease in the UK
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Wolfram Syndrome:Hereditary Diabetes Mellitus with Brainstem and Optic Atrophy
Ann Neurol 39:352-360, Scolding,N.J.,et al, 1996
Dentatorubral-Pallidoluysian Atrophy:Clin Features Closely Related to Unstable Expansion of Trinucleotide (CAG) Repeat
Ann Neurol 37:769-775, Ikeuchi,T.,et al, 1995
Neurodegeneration and Diabetes:UK Nationwide Study of Wolfram (DIDMOAD) Syndrome
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Excitatory Amino Acids as a Final Common Pathway for Neurologic Disorders
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The Polymerase Chain Reaction:Application to Nervous System Disease
Ann Neurol 34:513-523, Darnell,R.B., 1993
Clinicopath Conf
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Neurological Clues from Environmental Neurotoxins
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Fatal Familial Insomnia & Dysautonomia with Selective Degeneration of Thalamic Nuclei
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Familial Multisystem Atrophy with Possible Thalamic Dementia
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Progressive Pontobulbar Palsy With Deafness
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Olivopontocerebellar Atrophy in Children:A Report of Seven Cases in Two Families
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Familial Subacute Necrotizing Encephalomyelopathy of the Adult Form (Adult Leigh Syndrome)
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Dopamine & Disease
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