A Woman with Intellectual Disability, Amenorrhoea, Seizures, and Balance Problems
JAMA Neurol 73:1494-1495, Hughes, A.J.C.,et al, 2016
Extraintestinal Manifestations of Coeliac Disease
Nat Rev Gastroenterol Hepatol 12:561-571, Leffler, D.A.,et al, 2015
Clinicopath Conf, The POEMS Syndrome, with Demyelinating Neuropathy and Solitary Pharmacytoma of Bone
NEJM 362:929-940, Case 7-2010, 2010
Prolactinomas
NEJM 362:1219-1226, Klibanski,A., 2010
A Hereditary Moyamoya Syndrome With Multisystemic Manifestations
Neurol 75:259-264, Herv�,D., et al, 2010
Sarcoidosis: Clinical, Hormonal, and Magnetic Resonance Imaging (MRI) Manifestations of Hypothalamic-Pituitary Disease in 9 Patients and Review of the Literature
Medicine 86:259-268, Bihan,H.,et al, 2007
Late-Onset Cerebellar Ataxia with Hypogonadism and Muscle Coenzyme Q10 Deficiency
Neurol 62:818-820, Gironi,M.,et al, 2004
Prolactinoma
NEJM 349:2035-2041, Schlechte,J.A., 2003
Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998
X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
JNNP 63:4-14, vanGeel,B.M.,et al, 1997
Diagnosis and Management of Pituitary Tumours
BMJ 308:1087-1091, Levy,A.&Lightman,S.L., 1994
Hypothalamic-Pituitary Dysfunction after Radiation for Brain Tumors
NEJM 328:87-94, Constine,L.S.,et al, 1993
Cortically Evoked Motor Responses in Patients with Xp22. 3-Linked Kallmann's Syndrome and in Female Gene Carriers
Ann Neurol 31:299-304, Danek,A.,et al, 1992
Brief Report:Intragenic Deletion of the Kalig-1 Gene in Kallmann's Syndrome
NEJM 326:1752-1755, 17751992., Bick,D.,et al, 1992
Accelerated Aging of the Brain in Werner's Syndrome
Neurol 42:922-924, Kakigi,R.,et al, 1992
Cockayne Syndrome: Review of 140 Cases
Am J Med Genet 42:68-84, Nance,M.A. &Berry,S.A., 1992
Physical Features of Prader-Willi Syndrome in Neonates
Am J Dis Child 144:1251-1254, Aughton,D.J.&Cassidy,S.B., 1990
Neurologic Findings in Men with Isolated Hypogonadotropic Hypogonadism
Neurol 39:223-226, Schwankhau,J.D.,et al, 1989
Ataxia-Telangiectasia:A Multisystem Hereditary Disease with Immunodeficiency
Ann Int Med 99:367-379, Waldmann,T.A.,et al, 1983
Isolated CNS Sarcoidosis
JAMA 245:62-63, Cariski,A.T., 1981
Prolactin-Secreting Tumors & Hypogonadism in 22 Men
NEJM 299:847-852, Carter,J.N.,et al, 1978
Adrenomyeloneuropathy:A Probable Variant of Adrenoleukodystrophy
Neurol 27:1107-1113, Griffin,J.W.,et al, 1977
The Oculopharyngeal Syndrome
JAMA 203:1003, Murphy,S.F.,et al, 1968