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Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022

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

Recurrent Cerebral Ischemia During Pregnancies
Neurol 95:e2453-e2457, Bulwa, Z.,et al, 2020

Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
UpToDate, Feb, Shovlin, C., 2011

Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts & Leukoencephalopathy (CADASIL)
UpToDate (www.uptodate.com) Aug 21, Dichgans,M.,et al., 2007

Phenylketonuria
eMedicine (December), Arnold,G.L., 2007

Restless Legs Syndrome: Is Treatable But Under-Recognised
BMJ 333:457-458, Medcalf,P. &Bhatia,K.P., 2006

Myotonic Dystrophy
In Myology, Engel & Franzini-Armstrong, McGraw-Hill, Inc, New York V2, Ch 43, P1192, Harper,P.S.&Rudel,R., 1994

Wilson Disease
Medicine 71:139-164, Brewer,G.J.&Yuzbasiyan-Gurkan,V., 1992

Hyperammonemia in Women with a Mutation at the Ornithine Carbamoyltransferase Locus
NEJM 322:1652-1669, Arn,P.H.,et al, 1990

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

Clinicopathological Conference
Maroteaux-Lamy Syndrome, Case 44-1983, NEJM 309:1109-1117983., , 1983

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

Hereditary Paroxysmal Ataxia:Response to Acetazolamide
Neurol 28:1259-1264, Griggs,R.C.,et al, 1978



Showing articles 0 to 14 of 14