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Filter Applied: genetic neurologic disorders (Click to remove)

A 63-Year-Old Woman with Urinary Incontinence and Progressive Gait Disorder
Neurol 72:1607-1613, Lossos,A.,et al, 2009

Localization of the Giant Axonal Neuropathy Gene to Chromosome 16q24
Ann Neurol 43:143-148, Flanigan,K.M.,et al, 1998

Globoid Cell Leukodystrophy:A Family with Both Late-Infantile and Adult Type
Neurol 41:1382-1384, Verdru,P.,et al, 1991

Neurologic Crises in Hereditary Tyrosinemia
NEJM 322:432-437, Mitchell,G.,et al, 1990

Hereditary Neuropathy with Liability to Pressure Palsies
In Handbk of Clin Neurol, Elsevier Sci Publ Co, NY 51:551-562987., Cherry,S.&Mayer,R.F., 1987

Chronic Demyelinating Peripheral Neuropathy in Cerebrotendinous Xanthomatosis
Ann Neurol 20:89-91, Argov,Z.,et al, 1986

Peripheral Neuropathy in Cerebrotendinous Xanthomatosis
Arch Neurol 42:1008-1010, Katz,D.A.,et al, 1985

Clinicopathological Conference Metachromatic Leukodystrophy (juvenile type)
Case 7-1984, NEJM 310:445-4551984., , 1984

Juvenile Metachromatic Leukodystrophy
Arch Neurol 37:42-46, Haltia,T.,et al, 1980

Abnormalties In Cultured Muscle & Periphral Nerve Of A Patient With Adrenomyeloneuropathy
NEJM 301:588-590, Askanas,V.,et al, 1979

Late Adult-onset Metachromatic Leukodystrophy
Arch Neurol 35:475, Bosch,E.P., 1978

A 44-Year-Old Man with Eye, Kidney, and Brain Dysfunction
Ann Neurol 79:507-519, Vodopivec, I.,et al, 2016

Neurological Management of Von Hippel-Lindau Disease
Neurologist 21:73-78, Hodgson, T.S.,et al, 2016

The Limbic-Girdle Muscular Dystrophies
Neuro Clin 32:729-749, Wicklund, M.P. and Kissel, J.T., 2014

Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
Brain 134:3326-3332, Garone, C.,et al, 2011

A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002

Distal Myopathies:Clinical and Molecular Diagnosis and Classification
JNNP 67:703-709, Mastaglia,F.J.&Laing,N.G., 1999

Mucolipidosis Type IV; Characteristic MRI Findings
Neurol 51:565-569, Frei,K.P.,et al, 1998

Clinical Variability in Adult-Onset Acid Maltase Deficiency:Report of Affected Sibs and Review of Literature
Medicine 74:131-135, Felice,K.J.,et al, 1995

Myotonic Dystrophy
In Myology, Engel & Franzini-Armstrong, McGraw-Hill, Inc, New York V2, Ch 43, P1192, Harper,P.S.&Rudel,R., 1994

Brief Report:Autosomal Dominant Familial Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia
NEJM 327:1069-1074, Bilous,R.W.,et al, 1992

Emery-Dreifuss Muscular Dystrophy:Disease Spectrum and Differential Diagnosis
Neuropediatrics 19:62-71, Voit,T.,et al, 1988

Clinical & Extraneural Histologic Diagnosis of Neuronal Ceroidlipofuscinosis
Neurol 28:1008-1012, Miley,C.E.III.,et al, 1978

Familial Neuromuscular Disease with Type 1 Fiber Hypoplasia, Tubular Aggregates, Cardiomyopathy, & Myasthenic Features
Neurol 28:1135-1140, Dobkin,B.H.,et al, 1978

Reversible Cerebellocerebral Disorder in Primary Hemochromatosis
Arch Neurol 34:123, Singh,N.,et al, 1977

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

Clinicopathologic Conference, Facioscapulohumeral Muscular Dystrophy
NEJM 388:2379-2387, Case 19-2023, 2023

Multiple Cranial Nerve Gadolinium Enhancement in Norrie Disease
Ann Neurol 91:158-159, Jokela, M.,et al, 2022

Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
UptoDate 2022 Jan, Darras, B.T., 2022

Bilateral Hearing Loss and Constricted Visual Fields
BMJ 378:e070672, Sachdeva, G. & Shafquat, S., 2022

Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022

Clinicopathologic Conference, Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome
NEJM 385:165-175, Case 20-2021, 2021

A 22-Year-Old Man with Progressive Bilateral Visual Loss
Neurol 94:625-630, Yang, S.L.,et al, 2020

A 53-year-old Woman with Lower Extremity Paresthesias
Neurol 94:1105-1108, Dehbashi, S.,et al, 2020

Ehlers-Danlos Syndromes
BMJ 366:I4966, Ghali, N.,et al, 2019

Muscular Dystrophies
Lancet 394:2025-2038, Mercuri, E.,et al, 2019

Metabolic Lipid Muscle Disorders: Biomarkers and Treatment
Ther Adv Neurol Disord 12:1-15, Angelini, C.,et al, 2019

Clinical Reasoning: A Teenager with Left Arm Weakness
Neurol 90:e907-e910, Al-Ghamdi, F.,et al, 2018

A Curable Myopathy Manifesting as Exercixe Intolerance and Respirtory Failure
Neurol 91:187-190, Silva,A.M.S.,et al, 2018

A 10-year-old boy with Bilateral Vision Loss
Neurol 88:e221-e224, Bulwa, Z.,et al, 2017

Intractable Epilepsy and Progressive Cognitive Decline in a Young Man
JAMA Neurol 74:737-740, Cohen, A.L.,et al, 2017

Spinocerebellar Ataxia Type 2: Clinicogenetic Aspects, Mechanistic Insights, and Management Approaches
Front Neurol doi:10.3389/fneur.2017.00472, Velazquez-Perez, L.C.,et al, 2017

A Neonate with Micrognathia and Hypotonia
Neurol 86:e80-e84, Vawter-Lee, M.M.,et al, 2016

Hydrocephalus in Children
Lancet 387:788-799, Kahle, K.T.,et al, 2016

A Young Man with Progressive Vision and Hearing Loss
JAMA Neurol 73:880-883, Kung, N.H.,et al, 2016

A 40-year old Woman with Difficulty Going Down Stairs in High-Heeled Shoes
Ann Neurol 77:1-7, Scripko, P.,et al, 2015

Chronic and Slowly Progressive Weakness of the Legs and Hands
BMJ 348:g459, Nightingale, H.,et al, 2014

Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
NEJM 370:911-920, Zhou, Q.,et al, 2014

A 52-year-old Woman with Progressive Proximal Weakness
Neurol 83:e106-e109, Enduri, S.,et al, 2014



Showing articles 0 to 50 of 229 Next >>