Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998
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
Molybdenum Cofactor Deficiency
Neurol 85:e175-e178, Nagappa, M.,et al, 2015
Angelman Syndrome Revisited
Neurologist 13:305-312, Paprocka,J.,et al, 2007
MR Brain Imaging of Fucosidosis Type I
AJNR 22:777-780, Galluzzi,P.,et al, 2001
Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
NEJM 335:1169-1175, 12221996., Durr,A.,et al, 1996
Angelman Syndrome: Clinical Profile
J Child Neurol 7:270-280, Zori,R.T.,et al, 1992
Prenatal Prediction of Risk of the Fetal Hydantoin Syndrome
NEJM 322:1567-1572, Buehler,B.A.,et al, 1990
Physical Features of Prader-Willi Syndrome in Neonates
Am J Dis Child 144:1251-1254, Aughton,D.J.&Cassidy,S.B., 1990
Neurological Findings in Patients with the Fragile-X Syndrome
JNNP 48:150-153, Finelli,P.F.,et al, 1985
Sclerosteosis:Neurogenetic & Pathophysiologic Analysis of an American Kinship
Neurol 33:267-277, Stein,S.A.,et al, 1983
Dominant Chondrodysplasia Punctata with Neurologic Symptoms
Neurol 33:1095-1097, Curless,R.G., 1983
Clinicopathological Conference
Maroteaux-Lamy Syndrome, Case 44-1983, NEJM 309:1109-1117983., , 1983
The Cornelia de Lange Syndrome
J Pediatr 63:1000-1020, Ptacek,L.J., 1963