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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

Cardiac Dysfunction in Neuromuscular Diseases
The Neurologist 6:67-82, Pourmand,R., 2000

Inclusion Body Myositis in Twins
Neurol 51:598-600, Amato,A.A.&Shebert,R.T., 1998

Various Types of Hereditary Inclusion Body Myopathies Map to Chromosome 9p1-q1
Ann Neurol 41:548-551, Argov,Z.,et al, 1997

Gene Locus for Autosomal Recessive Distal Myopathy with Rimmed Vacuoles Maps to Chromosome 9
Ann Neurol 41:432-437, Ikeuchi,T.,et al, 1997

Inclusion Body Myositis and Myopathies
Ann Neurol 38:705-713, Griggs,R.C.,et al, 1995

Familial Inclusion Body Myositis:Evidence for Autosomal Dominant Inheritance
Neurol 42:897-902, Nevile,H.E.,et al, 1992

Facioscapulohumeral Dystrophy, In Skeletal Muscle Pathology
Churchhill Livingstone, NY, p285, 30392., Mastaglia,F.L.&Walton,J., 1992

Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
NEJM 386;674-687, Case 5-2022, 2022

More Than a Little Unsteady
NEJM 387:e9, Kraft, A.W.,et al, 2022

Recurrent Cerebral Ischemia During Pregnancies
Neurol 95:e2453-e2457, Bulwa, Z.,et al, 2020

Challenging Diagnosis of Gerstmann-Straussler-Scheinker Disease
Neurol 92:101-103, Kang, M.J.,et al, 2019

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

Clinicopathologic Conference, Vascular Malformations in Liver, Stomach, Esophagus, and Lungs that are Consistent with Hereditary Hemorrhagic Telangiectasia, Complicated
NEJM 376:972-980, Case 7-2017, 2017

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

Neuronal Intranuclear Inclusion Disease Cases with Leukoencephalopathy Diagnosed via Skin Biopsy
JNNP 85:354-356, Sone, J.,et al, 2014

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

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

Genetic Aspects of Alzheimer Disease
The Neurologist 15:80-86, Williamson,J.,et al, 2009

Impact of Presymptomatic Genetic Testing for Hereditary Ataxia and Neuromuscular Disorders
Arch Neurol 61:875-880, Smith,C.O.,et al, 2004

The Occurence of Guillain-Barre Syndrome Within Families
Neurol 63:1747-1750, Geleijns,K.,et al, 2004

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

Creutzfeldt-Jakob Disease and Related Transmissible Spongiform Encephalopathies
NEJM 339:1994-2004, Johnson,R.T. & Gibbs,Jr.,C.J., 1998

The Clinical Introduction of Genetic Testing for Alzheimer Disease, An Ethical Perspective
JAMA 277:832-836, Post,S.G.,et al, 1997

Niemann-Pick Disease Type C from Bench to Bedside
JAMA 276:561-564, Schiffmann,R., 1996

Hereditary Spastic Paraplegia:Advances in Genetic Research
Neurol 46:1507-1514, Fink,J.K.,et al, 1996

Genetic Factors in Alzheimer's Disease:A Review of Recent Advances
Ann Neurol 40:829-840, Levy-Lahad,E.&Bird,T.D., 1996

Gene Analysis of L1 Neural Cell Adhesion Molecule in Prenatal Diagnosis of Hydrocephalus
Lancet 345:161-162, Jouet,M.&Kenwrick,S., 1995

Charcot-Marie-Tooth Neuropathies:From Clinical Description to Molecular Genetics
Muscle & Nerve 18:267-275995., Ionasecu,V.V., 1995

Proximal Myotonic Myopathy, Clin Features of Disorder Similar to Myotonic Dystrophy
Arch Neurol 52:25-31, Ricker,K.,et al, 1995

Apolipoprotein E Genotype in Patients with Alzheimer's Disease:Implications for Risk of Dementia Among Relatives
Ann Neurol 38:797-808, Farrer,L.A.,et al, 1995

Anticonvulsant Hypersensitivity Syndrome
Arch Int Med 155:2285-2290, Vittorio,C.C.&Muglia,J.J., 1995

Clinical and Biochemical Features of 10 Adult Patients with Muscle Phosphorylase Kinase Deficiency
Neurol 44:461-466, Wilkinson,D.A.,et al, 1994

Benign Familial Disease with Muscle Mounding and Rippling
JNNP 57:344-347, Burns,R.J.,et al, 1994

A Clinical Study of Noonan Syndrome
Arch Dis Child 67:178-183, Sharland, M.,et al, 1992

Diagnostic Tests for Choreoacanthocytosis
Neurol 41:1000-1006, Feinberg,T.E.,et al, 1991

Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991

Clinical and Electrodignostic Features of X-Linked Recessive Bulbospinal Neuronopathy
Neurol 41:823-828, Olney,R.K.,et al, 1991

Clinical Genetics and Genetic Counseling in Alzheimer Disease
Ann Int Med 115:601-606, Breitner,J.C.S., 1991

Autosomal Dominant Cramping Disease
Arch Neurol 47:810-812, Ricker,K.&Moxley,R.T., 1990

A Disorder of Azonal Development, Necrotizing Myopathy, Cardiomyopathy, and Cataracts:A New Familial Disease
Ann Neurol 27:193-199, Lyon,G.,et al, 1990

Familial X-linked Myalgia and Cramps:A Nonprogressive Myopathy Associated with a Deletion in the Dystrophin Gene
Neurol 39:1277-1280, Gospe,S.M.,et al, 1989

Phosphorylase Deficiency
In Englel & Banker, Myology, McGraw-Hill Book Co, Ch 52, 1585-1601, DiMauro,S.&Bresolin,N., 1986

Acid Maltase Deficiency
Engel, A. G. in Engel and Banker, Myology, McGraw-Hill Co, New York, Ch 55, p. 1629-1651, , 1986

Polyneroupathies of Undetermined Cause
Acta Neurol Scand (Supp) :5970., Prineas,J., 1970

A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024

A 26-Year-Old Woman with Recurrent Pain, Weakness, and Atrophy in Bilateral Upper Limbs During Pregnancy and Puerperium
Neurol 100:631-637, Zeng,T.f.,et al, 2023

Hereditary Hemorrhagic Telangiectasia, Clinical Presentations, and Management
Stroke 54:e512-e515, Silveira,L.,et al, 2023

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



Showing articles 0 to 50 of 183 Next >>