Extraintestinal Manifestations of Coeliac Disease
Nat Rev Gastroenterol Hepatol 12:561-571, Leffler, D.A.,et al, 2015
Neurological Manifestations in Xeroderma Pigmentosum
Ann Neurol 20:70-75, Mimaki,T.,et al, 1986
A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
Neurol 102:e209358, Barbosa,A.R.,et al, 2024
Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
NEJM 376:1668-1678, CASE 13-2017, 2017
A Woman with Intellectual Disability, Amenorrhoea, Seizures, and Balance Problems
JAMA Neurol 73:1494-1495, Hughes, A.J.C.,et al, 2016
Growth Hormone Treatment for Childhood Short Stature and Risk of Stroke in Early Adulthood
Neurol 83:780-786, Poidvin, a.,et al, 2014
Mitochondrial Respiratory-Chain Diseases
NEJM 348:2656-2668, DiMauro,S. &Schon,E.A., 2003
Craniofacial and Cutaneous Findings Expand the Phenotype of Hereditary Neuralgic Amyotrophy
Neurol 57:1963-1968, Jeannet,P.,et al, 2001
Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998
Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995
Cockayne Syndrome: Review of 140 Cases
Am J Med Genet 42:68-84, Nance,M.A. &Berry,S.A., 1992
A Clinical Study of Noonan Syndrome
Arch Dis Child 67:178-183, Sharland, M.,et al, 1992
Child Abuse as a Cause of Post-Traumatic Hypopituitarism
NEJM 302:724-728, Miller,W.L.,et al, 1980
Kearns-Sayre Syndrome with Hypoparathyroidism
Ann Neurol 3:513, Horwitz,S.J.,et al, 1978
Osteogenesis Imperfecta, in Heritable Disorders of Connective Tissue
(Ed) , 4th edition, The C. V. Mosby Company St. Louis, Chap. 8, pp. 390. , 1972, McKusick,V.A., 1972