A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024
Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
Neurol 90:e625-e631, Set, K.K.,et al, 2018
Progressive cognitive decline, cerebellar ataxia, recurrent myoclonus, and epilepsy
Neurol 90:e1827-e1831, Xiao, F.,et al, 2018
FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
Mol Genet Metab 125:281-291, Almannai, M.,et al, 2018
Niemann-Pick Disease Type C from Bench to Bedside
JAMA 276:561-564, Schiffmann,R., 1996
Alexander's Disease, A Disease of Astrocytes
Brain 108:367-385, Borrett,D.&Becker,L.E., 1985
Man with Recurrent Paralysis and Cerebral White Matter Lesions
JAMA Neurol 74:599-600, Xiao, F., 2017
A 27-year-old man with Acute-Onset Ataxia
Neurol 88:e207-e211, Risco, J. & Weiss, M., 2017
Early Clinical Signs and Imaging Findings in Gerstmann-Straussler-Scheinker Syndrome (Pro102Leu)
Neurol 66:1672-1678, Arata,H.,et al, 2006
Clinicopath Conf, Primary Lymphoma of CNS
NEJM 346:1009-1015, Case 10-2002, 2002
Hypophosphatemia-Induced Neuropathy: Clinical and Electrophysiologic Findings
Muscle Nerve 21:650-652, Siddiqui,M.F. &Bertorini,T.E., 1998
Paroxysmal Symptoms as the First Manifestations of Multiple Sclerosis
JNNP 43:296-304, Twomey,J.A.,et al, 1980