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Showing articles 0 to 41 of 41

Filter Applied: genetic neurologic disorders (Click to remove)

Congential Deficienty of Factor VII in Subarachnoid Hemorrhage
Stroke 25:508-510, Papa,M.L.,et al, 1994

Familial Intracranial Haemorrhage Due to Factor V Deficiency
JNNP 55:227-228, Wadia,R.S.,et al, 1992

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

Neurofibromatosis Type I in Children
J Pediatr 116:845-853, Listernick,R.&Charrow,J., 1990

Hematologic Disorders and Ischemic Stroke
Stroke 21:1111-1121, Hart,R.G.&Kanter,M.C., 1990

Von Recklinghausen Neurofibromatosis
NEJM 305:1617-1627, Riccardi,V.M., 1981

Studies in Aging of the Brain:IV. Familial Alzheimer Dis. :Relat. to Transmiss. Demetia, Aneuploidy, & Microtubular Defects
Neurol 29:1402, Book,R.H.,et al, 1979

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

Efficacy and Safety of Everolimus for Subependymal Giant Cell Astrocytomas Associated with Tuberous Sclerosis Complex (EXIST-1): A Multicenter, Randomized, Placebo-Controlled Phase 3 Trial
Lancet 381:125-132, Franz, D.,et al, 2013

Neurofibromatosis Type 2
Lancet 373:1974-1986, Astagiri,A.R.,et al, 2009

The Tuberous Sclerosis Complex
NEJM 355:1345-1356, Crino,P.B.,et al, 2006

Malignant Hyperthermia, Update on Susceptibility Testing
JAMA 293:2918-2924,2958, Litman,R.S.&Rosenberg,H., 2005

Multiminicore Disease in a Family Susceptible to Malignant Hyperthermia: Histology, In Vitro Contracture Tests, and Genetic Characterization
Arch Neurol 61:106-113, Guis,S.,et al, 2004

Cerebroretinal Vasculopathy Mimicking a Brain Tumor:A Case of a Rare Hereditary Syndrome
Neurol 53:629-631, Weil,S.,et al, 1999

Ion Channels and Neurological Disease:DNA Based Diagnosis is Now Possible,and Ion Channels May be Important in Common Paroxysmal Disorders
JNNP 65:427-431, Hanna,M.G.,et al, 1998

Turcot's Syndrome:Evidence for Linkage to the Adenomatous Polyposis Coli (APC) Locus
neurol 44:1083-1086, Lasser,D.M.,et al, 1994

The Nondystrophic Myotonias
In Myology, McGraw-Hill, 2nd Ed, Ch49, p1291-13024., Rudel,R.,et al, 1994

Acquired Ocular Visual Impairment in Children, 1960-1989
Am J Dis Child 147:325-328, Robinson,G.C.&Jan,J.E., 1993

Molecular Genetics in Neurology
Ann Neurol 34:757-773, Martin,J.B., 1993

New Research in Tuberous Sclerosis, Probably More Common with More Adult Complications
BMJ 304:1647-1648, Mitchell,S.&Bradbeer,C., 1992

Detecting Susceptibility to Malignant Hyperthermia
BMJ 304:791-792, Ellis,F.R., 1992

Central Nervous System Involvement in Von Hippel-Lindau Disease
Neurol 41:41-46, Filling-Katz,M.R.,et al, 1991

More Bad Luck for the X Chromosome:Thalassaemia/Mental Retardation
Lancet 338:1562-1563, , 1991

Neurofibromatosis 2 (Bilateral Acoustic Neurofibromatosis) An Update
Ann Int Med 113:39-52, Mulvihill,J.J.,et al, 1990

Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred
Medicine 68:1-29, Lamiell,J.M.,et al, 1989

Neurofibromatosis and Other Disorders Among Children with CNS Tumors and Their Families
Neurol 39:487-492, Baptiste,M.,et al, 1989

The Diagnosis of Neurofibromatosis-1 in the Child Under the Age of 6 Years
Am J Dis Child 143:717-719, Obringer,A.C.,et al, 1989

Neurofibromatosis 2 (Bilateral Acoustic Neuro-fibromatosis)
NEJM 318:684-688, Martuza,R.L.&Eldridge,R., 1988

Clinicopath Conf
Mastoiditis with Right Transverse-Sinus and Sigmoid-Sinus Thrombosis, Case Record 20-1988, NEJM 318:, 321328,1988., 1988

Neurofibromatosis 2:Clinical & DNA Linkage Studies of a Large Kindred
Wertelecki. W. , et al, NEJM 319:276-2838., , 1988

Mendelian Etiologies of Stroke
Ann Neurol 22:175-192, Natowicz,M.&Kelley,R.I., 1987

Central Core Disease, Clinical Features in 13 Patients
Medicine 66:389-396, Shuaid,A.,et al, 1987

The Malignant Hyperthermia Syndrome
NEJM 309:416-418, Nelson,T.E.,et al, 1983

A Family Affected with Intestinal Polyposis & Gliomas
Ann Neurol 10:390-392, Todd,D.W.,et al, 1981

Malignant Hyperthermia & Central Core Disease in a Child with Congenital Dislocating Hips
Arch Neurol 35:189, Eng,G.D.,et al, 1978

Meningiomas in Five Members of a Family Over Two Generations, in One Member Simultaneously with Acoustic Neurinomas
Neurol 28:567, Delleman,J.W.,et al, 1978

Ataxia Telangiectasia
Arch Neurol 35:553-554, Teplitz,R.L., 1978

Neuroectodermal Tumors in the Cerebellum in Two Sisters
JNNP 40:886, Thomas,M.,et al, 1977

Ataxia-Telangiectasia-Clonal Growth of Translocation Lymphocytes
NEJM 289:286, Hecht,F.,et al, 1973

Pathology of Malignant Hyperpyrexia
BMJ Editorial 249, 1973, Feb., , 1973



Showing articles 0 to 41 of 41