Niemann-Pick Type C Disease
www.UpToDate.com, Nov, Schiffmann, R., 2026
Neuroimaging Features of Biotinidase Deficiency
AJNR 44:328-333, Biswas,A.,et al, 2023
Chronic Meningitis
NEJM 385:930-936, Aksamit, A.J., 2021
Review of the Neurological Implications of von Hippel-Lindau Disease
JAMA Neurol 75:620-627, Dornbos, D.,et al, 2018
Neurologic Manifestations of von Hippel-Lindau Disease
JAMA 300:1334-1342, Butman,J.A.,et al, 2008
Metabolic Disease and Stroke: MELAS
emedicine.com, Mandava,P.,et al, 2006
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002
Clinicopath Conf,Syndrome of Mitochondrial Encephalopathy,Lactic Acidosis,and Stroke-Like Episodes (MELAS),Case 39-1998
NEJM 339:1914-1923, , 1998
Cockayne Syndrome: Review of 140 Cases
Am J Med Genet 42:68-84, Nance,M.A. &Berry,S.A., 1992
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
Clinical Findings in Four Children with Biotinidase Deficiency Detected Through a Statewide Neonatal Screening Program
NEJM 313:16-19, 43-441985., Wolf,B.,et al, 1985
Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
Ann Neurol 18:614-617, Wolf,B.,et al, 1985
Sclerosteosis:Neurogenetic & Pathophysiologic Analysis of an American Kinship
Neurol 33:267-277, Stein,S.A.,et al, 1983
Melas Syndrome
Stat PearlsPubl Jan 25, Pia,S. & Lui,F., 2025
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
A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
Neurol 102:e209358, Barbosa,A.R.,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
Pachymeningitis and Aortitis as the Initial Presentation of Granulomatosis with Polyangiitis
Neurol 101:979-980, Li,X.,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
Multiple Cranial Nerve Gadolinium Enhancement in Norrie Disease
Ann Neurol 91:158-159, Jokela, M.,et al, 2022
Bilateral Hearing Loss and Constricted Visual Fields
BMJ 378:e070672, Sachdeva, G. & Shafquat, S., 2022
The Phenotypic Continuum of ATP1A3-Related Disorders
Neurol 99:e1511-e1526, Vezyroglou,A., et al, 2022
Spontaneous Intracranial Hypotension
NEJM 385:2173-2178, Schievink, W.I., 2021
Congenital Cytomegalovirus Infection
BMJ 373:m1212, Pesch, M.H.,et al, 2021
Neurobrucellosis Brief Review
Neurologist 26:248-252, Bouferraa,Y.,et al, 2021
Case Report: Anti-NMDA Receptor Encephalitis with Bilateral Hearing Loss as the Initial Symptom
Front Neurol doi:10.3389/FNEUR.2021.648911, Cheng,H.,et al, 2021
A Patient with a History of Weight Loss Presenting with Seizures
Neurol 95:e2038-e2042, Tang, G. & Benavides, D.R., 2020
Migraine, hearing loss, and blurred vision in a young woman
Neurol 95:e2945-e2950, Sasikumar, S.,et al, 2020
A Woman in her 40s with Transient Neurological Symptoms, Migraine Headaches, and Hearing Loss
JAMA Neurol 76:504-505, Roshal, D.A.,et al, 2019
Delayed Complications of Cranial Irradiation
www.UptoDate.com, May, Dietrich, J.,et al, 2019
Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
Neurol 90:e625-e631, Set, K.K.,et al, 2018
Tinnitus
NEJM 378:1224-1231, Bauer, C.A., 2018
Hearing and Vision Loss in an Older Man
JAMA Neurol 75:1439-1440, Ho, V.M.,et al, 2018
Clinicopathologic Conference, Susacs Syndrome
NEJM 379:2152-2159, Case 37-2018, 2018
Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
NEJM 376:1668-1678, CASE 13-2017, 2017
A Young Man with Progressive Vision and Hearing Loss
JAMA Neurol 73:880-883, Kung, N.H.,et al, 2016
Facial Grimacing and Sensorineural Hearing Loss in a Woman with Cirrhosis of the Liver
Neurol 87:e239, Sgobbi de Souza, P.V.,et al, 2016
Identifying and Managing Common Childhood Language and Speech Impairments
BMJ 350:h2318, Reilly, S.,et al, 2015
Menieres Disease
BMJ 349:g6544, Harcourt, J.,et al, 2014
Infections of the Nervous System, (Bacterial, Fungal, Spirochetal, Parasitic) and Sarcoidosis, Sarcoidosis
Adams & Victors Principles of Neurology, Chp 32, pg 721, Ropper, A.H.,et al, 2014
Intracranial Neoplasms and Paraneoplastic Disorders, Carcinomatous Meningitis
Adams & Victors Principles of Neurology, Chp 31, pg 662, Ropper, A.H.,et al, 2014
Clinical Reasoning: A 45-year-old Woman with Reversible Bilateral Hearing Loss
Neurol 80:e23-e26, Woo, P.,et al, 2013
Bilirubin-Induced Neurologic Damage - Mechanisms and Management Approaches
NEJM 369:2021-2030, Watchko, J.F.,et al, 2013
Cochleovestibular Deficit as First Manifestation of Syphilis in a HIV-Infected Patient
Case Report Neurol 5:62-67, Weber, S.,et al, 2013
Cogan Syndrome An Analysis of Reported Neurological Manifestations
The Neurologist 18:55-63, Antonios,N. and Silliman,S., 2012