A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
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The Phenotypic Continuum of ATP1A3-Related Disorders
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Congenital Cytomegalovirus Infection
BMJ 373:m1212, Pesch, M.H.,et al, 2021
Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
Neurol 90:e625-e631, Set, K.K.,et al, 2018
Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
NEJM 376:1668-1678, CASE 13-2017, 2017
The Acquired Metabolic Disorders of the Nervous System, Cretinism and Neonatal Myxedema
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Hearing Improvement After Bevacizumab in Patients with Neurofibromatosis Type 2
NEJM 361:358-367, Plotkin,S.R.,et al, 2009
Clinicopath Conf., MELAS Syndrome
NEJM 353:2271-2280, Case 36-2005, 2005
Mitochondrial Respiratory-Chain Diseases
NEJM 348:2656-2668, DiMauro,S. &Schon,E.A., 2003
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002
Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995
Mitochondrial Neurogastrointestinal Encephalomyopathy (MMGIE) :Clin Biochem & Genetic Features of Auto Recess Mitochond Disorder
Neurol 44:721-727, Hirano,M.,et al, 1994
TORCH Infections in the Newborn
Semin Neurol 13:106-115, Donley,D.K., 1993
Cockayne Syndrome: Review of 140 Cases
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A Clinical Study of Noonan Syndrome
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Fucosidosis Revisited:A Review of 77 Patients
Am J Med Genet 38:111-131, Willems,P.J.,et al, 1991
Neurofibromatosis 2 (Bilateral Acoustic Neuro-fibromatosis)
NEJM 318:684-688, Martuza,R.L.&Eldridge,R., 1988
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, & Strokelike Episodes:A Distinctive Clinical Syndrome
Ann Neurol 16:481-488, Pavlakis,S.G.,et al, 1984
Mucopolysaccaridosis IV (Morquio Syndrome) , in The Metabolic Basis of Inherited Disease
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Neurologic Disturbances in Pagets Disease of Bone:Response to Calcitonin
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Kearns-Sayre Syndrome & Hypoparathyroidism
Ann Neurol 3:455, Pellock,J.M.,et al, 1978
Normal Pressure Hydrocephalus, Recog & Relation to Neuro Abnormalities in Cockayne's Sydrome
Arch Neurol 35:337, Brumback,R.A.,et al, 1978
School Failure & Deafness After"Silent"Congenital Cytomegalovirus Infection
NEJM 295:468, Hanshaw,J.B.,et al, 1976
Osteogenesis Imperfecta, in Heritable Disorders of Connective Tissue
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Treating Hearing Loss with Hearing Aids for the Prevention of Cognitive Decline and Dementia
Neurol 106:e214572, Cribb,L.,et al, 2026
Niemann-Pick Type C Disease
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Bilateral Posterior Limb Internal Capsule T2 Hyperintensity and Severe Cerebellar Atrophy in 2 Lifelong Friends
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Melas Syndrome
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Granulomatosis with Polyangiitis Presenting as Isolated Ear Involvement A Case Series and Literature Review
ACTA Otorhinolaryngol Italica 45:217-230, Zorzi,S.,et al, 2025
Vestibular Drop Attacks Diagnosed with Valuable Insights from CCTV
Lancet 404:787-788, Joffily,L.,et al, 2024
Labyrinthine Infarction Documented on Magnetic Resonance Imaging
Stroke 55:e277-280, Kong,J.,et al, 2024
Clinical Manifestations and Diagnostic Challenges in a 16-Year-Old With Early-Onset Ataxia
Neurol 104:e210253, Chadha,D.,et al, 2024
Focusing on the Eye Signs of Alport Syndrome in a 40-Year-Old Man Who Previously Had a Kidney Transplant and Hearing Loss
Lancet 401:e2, Kovalchuk,B. & Khoramnia,R., 2023
A 66-Year-Old Woman With Progressive Encephalopathy and Bilateral Hearing Loss
Neurol 100:254-258, Rivers,D.,et al, 2023
Hearing Aids and Cochlear Implants in the Prevention of Cognitive Decline and Dementia-Breaking Through the Silence
JAMA Neurol 80:127-128, Denham,M.W.,et al, 2023
Neuroimaging Features of Biotinidase Deficiency
AJNR 44:328-333, Biswas,A.,et al, 2023
Pachymeningitis and Aortitis as the Initial Presentation of Granulomatosis with Polyangiitis
Neurol 101:979-980, Li,X.,et al, 2023
A Woman with Progressive Painless Sequential Monocular Vision Loss
Neurol 101:e2197-e2201, Ditrapani,J.,et al, 2023
Consensus Practice Guidelines on Postdural Puncture Headache from a Multisociety, International Working Group
JAMA Network Open 6:e2325387, Uppal,V.,et al, 2023
A 24-Year-Old Pregnant Woman with Headache and Behavioral Change Progressing to Coma
Neurol 101:e2331-e2337, Barnardes,C.,et al, 2023
Multiple Cranial Nerve Gadolinium Enhancement in Norrie Disease
Ann Neurol 91:158-159, Jokela, M.,et al, 2022
Clinicopathologic Conference, Neurosyphilis
NEJM 386:583-590, Case 4-2022, 2022
A 72-Year-Old Woman with Rapidly Progressive Bilateral Hearing Loss
Neurol 98:632-637, Alsalem, A.,et al, 2022
Bilateral Hearing Loss and Constricted Visual Fields
BMJ 378:e070672, Sachdeva, G. & Shafquat, S., 2022
A 42-Year-Old Woman with Mysterious Monocytic Meningitis
Neurol 97:449-454, Nothem, M.E., et al, 2021
Chronic Meningitis
NEJM 385:930-936, Aksamit, A.J., 2021
A 49-Year-OLD Woman with Progressive Numbness and Gait Instability
Neurol 97:342-347, Zahid, A.,et al, 2021
Spontaneous Intracranial Hypotension
NEJM 385:2173-2178, Schievink, W.I., 2021