Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
Neurol 100:766-783, Manini,A.,&Pantoni,L., 2023
Neonatal Seizures
NEJM 388:1692-1700, Ropper.A.H., 2023
Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
NEJM 386;674-687, Case 5-2022, 2022
Intractable Epilepsy and Progressive Cognitive Decline in a Young Man
JAMA Neurol 74:737-740, Cohen, A.L.,et al, 2017
MRI Findings of Biotin-Responsive Basal Ganglia Disease Before and After Treatment
Neurol 86:e71-e72, Saeedan, M.B. & Dogar, M.A., 2016
Neurological Management of Von Hippel-Lindau Disease
Neurologist 21:73-78, Hodgson, T.S.,et al, 2016
Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016
Characyeristic features and progression of abnormalities on MRI for CARASIL
Neurol 85:459-463, Sekine, Y., etal, 2015
Molybdenum Cofactor Deficiency
Neurol 85:e175-e178, Nagappa, M.,et al, 2015
Inherited Metabolic Diseases of the Nervous System, Pyridoxine Dependent Seizures
Adams & Victors Principles of Neurology, Chp 37, pg 951, Ropper, A.H.,et al, 2014
Inherited Metabolic Diseases of the Nervous System, Tay Sachs Disease
Adams & Victors Principles of Neurology, Chp 37, pg 957, Ropper, A.H.,et al, 2014
Clinicopath Conf., Adult Cerebral Form of X-Linked Adrenoleukodystrophy
NEJM 360:171-181, Case 1-2009, 2009
Phenylketonuria
eMedicine (December), Arnold,G.L., 2007
The Tuberous Sclerosis Complex
NEJM 355:1345-1356, Crino,P.B.,et al, 2006
Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
Brain 129:1674-1684, Horvath, R.,et al, 2006
Mitochondrial DNA Polymerase-y and Human Disease
Hum Mol Genet 15:R244-R252, Hudson, G.,et al, 2006
Progressive Myoclonic Epilepsies: A Review of Genetic and Therapeutic Aspects
Lancet Neurol 4:239-248, Shahwan, A., et al, 2005
Natural History of Nonketotic Hyperglycinemia in 65 Patients
Neurol 63:1847-1853, Hoover-Fong,J.E.,et al, 2004
Autosomal Dominant Acute Necrotizing Encephalopathy
Neurol 61:226-230, Neilson,D.E.,et al, 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
Familial Form of Intracranial Cavernous Angioma:MR Imaging Findings in 51 Families
Radiology 214:209-216, Brunereau,L.,et al, 2000
Prethrombotic Disorders in Children with Arterial Ischemic Stroke and Sinovenous Thrombosis
Arch Neurol 56:967-971, Bonduel,M.,et al, 1999
Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998
The Phenotypic Spectrum of CADASIL:Clinical Findings in 102 Cases,
Ann Neurol 44:731-739,715, Dichgans,M.,et al, 1998
X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
JNNP 63:4-14, vanGeel,B.M.,et al, 1997
Hereditary Hemorrhagic Telangiectasia
NEJM 333:918-924, Guttmacher,A.E.,et al, 1995
Causal Heterogeneity in Isolated Lissencephaly
Neurol 42:1375-1388, Dobyns,W.B.,et al, 1992
Neurological and Developmental Findings in Children with Cataracts
Am J Dis Child 13:706-710, Pike,M.G.,et al, 1989
Cerebral Cavernous Malformations:Incidence and Familial Occurrence
NEJM 319:343-347, Rigamonti,D.,et al, 1988
Livedo Reticularis, Porcelain-White Scars, and Cerebral Thromboses
Lancet 1:1263-1265, Burton,J.L., 1988
Familial Oculoleptomeningeal Amyloidosis, Report of a New Family with Unusual Features
Arch Neurol 45:1118-1122, Uitti,R.J.,et al, 1988
Clinical Spectrum of Hereditary Hemorrhagic Telangiectasia (Osler-Wever-Rendu Disease)
Am J Med 82:989-997, Perry,W.H., 1987
Neurological Findings in Patients with the Fragile-X Syndrome
JNNP 48:150-153, Finelli,P.F.,et al, 1985
Livedo Reticularis & Cerebrovascular Lesions (Sneddon's Syndrome) , Clin, Radiolog & Path Features in Eight Cases
Brain 106:965-979, Rebollo,M.,et al, 1983
Fragile X Chromosome & X-Linked Mental Retardation
CMA Journal 127:123-126, Larbrisseau,A.,et al, 1982
Von Recklinghausen Neurofibromatosis
NEJM 305:1617-1627, Riccardi,V.M., 1981
Familial Cavernous Angiomas
Arch Neurol 35:746-749, Bicknell,J.M.,et al, 1978
Neurologic Aspects of Hereditary Hemorrhagic Telangiectasia
Arch Neurol 34:101, Adams,H.P.,et al, 1977
A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024
Clinical Neurologic Features and Evaluation of PTEN Hamartoma Tumor Syndrome, A Systematic Review
Neurol 103:e209844, Dhawan,A.,et al, 2024
A 50-YEar-Old Man with Intracerebral Hemorrhage and Tortuous Retinal Arterioles
Neurol 103:e209796, Bouchart,J.,et al, 2024
A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
Neurol 100:206-212, Stamm,B.,et al, 2023
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
Adult Patient Presenting with Spine Pain Following a Motor Vehicle Accident
Neurol 100:1025-1031, Sharma,V. & Soto,O, 2023
Movement Disorders in Patients with Genetic Developmental and Epileptic Encephalopathies
Neurol 101:e1884-e1892, van der Veen,S.,et al, 2023
Multiple Cranial Nerve Gadolinium Enhancement in Norrie Disease
Ann Neurol 91:158-159, Jokela, M.,et al, 2022
Fragile X-Associated Tremor or Ataxia Syndrome in a Patient with Difficulty Walking, Falls, a Tremor, and Erectile Dysfunction
Lancet 400:1144, Sabino de Oliveira, D.,et al, 2022
Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
A Middle-aged Woman with Severe Scoliosis and Encephalopathy
JAMA Neurol 78:251-252, Mohan, G.,et al, 2021