Penetrance of the Fragile X-Associated Tremor/Ataxia Syndrome in a Premutation Carrier Population
JAMA 291:460-469, Jacquemont,S.,et al, 2004
A 67-Year-Old Woman with Progressive Diplopia, Vertigo, and Ataxia
Neurol 98:e669-e674, Sakoda, M.,et al, 2022
A 6-Year-Old Girl with Progressive Toe Walking
Neurol 98:e769-e773, Libdeh, A.A. & Ibrahim, A., 2022
Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
NEJM 386;674-687, Case 5-2022, 2022
Clinicopathologic Conference, Disseminated Mycobacterium Bovis Infection
NEJM 384:651-662, Case 5-2021, 2021
Bilateral Temporal Pole Involvement in Adult-Onset X-Linked Adrenoleukodystrophy
JAMA Neurol 78:367-368, Liu, M.,et al, 2021
A 49-Year-OLD Woman with Progressive Numbness and Gait Instability
Neurol 97:342-347, Zahid, A.,et al, 2021
A 59-year-old Woman with Multiple Myeloma and Lower Extremity Weakness and Numbness
Neurol 94:794-800, Gadot, R.,et al, 2020
Clinicopathologic conference, Vitamin D deficiency
NEJM 383:2462-2470, Case 39-2020, 2020
Progressive Proximal Weakness in a 61-Year-Old Man
Neurol 98:122-127, Yu, M.,et al, 2020
A 54-year-old man with Dyspnea and Muscle Weakness
Neurol 92:e1136-e1140, Chertcoff, A.,et al, 2019
A 55-Year-Old Woman Presenting with Ataxia and Numbness 1 Year After Ileum Resection
Neurol 93:675-679, Cassano, V.,et al, 2019
A Curable Myopathy Manifesting as Exercixe Intolerance and Respirtory Failure
Neurol 91:187-190, Silva,A.M.S.,et al, 2018
A Middle-aged man with Progressive Ophthalmoparesis, Ataxia, and Spastic Paraparesis
JAMA Neurol 74:733-736, Kung, N.H.,et al, 2017
A 54-year-old woman with Dementia, Myoclonus, and Ataxia
Neurol 89:e7-e12, Ali, F.,et al, 2017
A 64-year-old Man with Progressive Paraspinal Muscle Weakness
Neurol 86:e4-e9, Schneider, R.,et al, 2016
Paraneoplastic Neurological Syndromes
Clin Exp Immunol 175:336-348, Leypoldt, F. & Wandinger, K.-P., 2014
The Limbic-Girdle Muscular Dystrophies
Neuro Clin 32:729-749, Wicklund, M.P. and Kissel, J.T., 2014
Clincopathologic Conference,Graves Disease with Thyrotoxic Periodic Paralysis
NEJM 366:553-560, Case 4-2012, 2012
Granulomatous Meningitis due to Rheumatoid Arthritis
Acta Neurol Belg 112:193-197, Duray, M.C.,et al, 2012
Clinicopathologic Conference, Thymoma with Paraneoplastic Myasthenia Gravis, Polymyositis and Myocarditis, and Brain Stem Encephalitis
NEJM 365:2413-2422, Case 39-2011, 2011
Dopamine-Responsive Dystonia
eMedicine (Apr), Nikhar,N.K., 2006
Underappreciated Statin-Induced Myopathic Weakness Causes Disability
Neurorehabil Neural Repair 19:259-263, Dobkin,B.H., 2005
Distal Myopathies:Clinical and Molecular Diagnosis and Classification
JNNP 67:703-709, Mastaglia,F.J.&Laing,N.G., 1999
Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
Pediatrics 102:98-100, Cabana,M.D.,et al, 1998
Dopa-Responsive Dystonia, Some Pieces of the Puzzle are Still Missing
Neurol 50:853-855, Nygaard,T.G.&Wooten,G.F., 1998
Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998
Clinicopath Conf,Sarcoidosis,with Involvement of Spinal Cord,Brain,Mediastinal Lymph Nodes and ? Lung,Case 35-1998
NEJM 339:1534-1541, , 1998
Cerebral Manifestation of Erdheim-Chester Disease:Clinical and Radiologic Findings
Neurol 49:1702-1705, Bohlega,S.,et al, 1997
Hereditary Spastic Paraplegia:Advances in Genetic Research
Neurol 46:1507-1514, Fink,J.K.,et al, 1996
Neurologic Aspects of Inflammatory Bowel Disease
Neurol 45:416-421, Lossos,A.,et al, 1995
Genetic Homogeneity Between Childhood-Onset and Adult-Onset Autosomal Recessive Spinal Muscular Atrophy
Lancet 346:741-742, Brahe,C.,et al, 1995
GM1 Gangliosidosis in Adults:Clinical and Molecular Analysis of 16 Japanese Patients
Ann Neurol 31:328-332, Yoshida,K.,et al, 1992
Dopa-Responsive Dystonia:Long-Term Treatment Response and Prognosis
Neurol 41:174-181, Nygaard,T.G.,et al, 1991
Clinicopath Conf
Case 50-1991, Renal Cell Carcinoma & Inflammatory Polyneuropathy (? paraneoplastic) , NEJM 325:1723-, 735, 199, 1991
Clinicopath Conf
Familial Visceral Myopathy (Oculogastrointestinal Muscular Dystrophy) , Case 12-1990, NEJM 322:829-8, 1, 19, 1990
Adrenoleukodystrophy
JAMA 262:1504-1506, Ladenson,P.W., 1989
Clinicopath Conf
Chronic Osteomyelitis of Spine, with Intervertebral Diskitis (T3-T4) & Epidural Abscess (Staph Aureu, ) , Cas9,NEJM 320:1610-1618,1989., 1989
Dopa Responsive Dystonia:A Treatable Condition Misdiagnosed as Cerebral Palsy
BMJ 298:1019-1020, Boyd,K.&Patterson,V., 1989
Neuromuscular Involvement in Mild, Asymptomatic Primary Hyperparathyroidism
Am J Med 87:553-557, Turken,S.A., 1989
Hypothyroidism
In Neurologic Clinics, W. B. Saunders Co, Phila, 7:492-493., Kaminski,H.J.&Ruff,R.L., 1989
Clinicopath Conf
Paraneoplastic Encephalitis (Limbic and Brain-Stem Encephalitis) , Case Record 39-1988, NEJM 319:849, 860,, 1988
Hereditary Dystonia-Parkinsonism Syndrome of Juvenile Onset
Neurol 36:1424-1428, Nygaard,T.C.&Duvoisin,R.C., 1986
Facioscapulohumeral Dystrophy, in Myology, Basic & Clinical
McGraw-Hill Book Co, NY, p1251986., Munsat,T.L., 1986
Hydrocephalic Dementia in Pagets Disease of the Skull:Treatment by Ventriculoatrial Shunt
Neurol 29:513-516, Goldhammer,Y.,et al, 1979
The Spectrum of Mild X-Linked Recessive Muscular Dystrophy
Arch Neurol 34:408, Ringer,S.P.,et al, 1977
Progressive Spastic Paraparesis & Adrenal Insufficiency
Arch Neurol 33:678, Gumbinas,M.,et al, 1976
MGH-CPC-Ataxic Telangiectasia & Left Frontal Lobe Glioma
NEJM 292:1231, , 1975
Adult Toxoplasmosis Presenting as Polymyositis & Cerebellar Ataxia
Ann Int Med 82:367, Greenlee,J.,et al, 1975