Congenital Titinopathy:Comprehensive Characterization of the Most Severe End of the Disease Spectrum
Ann Neurol 97:611-628, Coppens,S.,et al, 2025
A 23-Year-Old Man With Seizures and Visual Deficit
Neurol 70:73-78, Boustany,R.-M.,et al, 2008
Clinicopath Conf,Syndrome of Mitochondrial Encephalopathy,Lactic Acidosis,and Stroke-Like Episodes (MELAS),Case 39-1998
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Clinicopathological Conference Metachromatic Leukodystrophy (juvenile type)
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Juvenile Huntington Chorea:Clinical, Ultrastructural, & Biochemical Studies
Neurol 28:23, Goebel,H.H.,et al, 1978
Clinical & Extraneural Histologic Diagnosis of Neuronal Ceroidlipofuscinosis
Neurol 28:1008-1012, Miley,C.E.III.,et al, 1978
Ocular Involvement in Whipple's Disease
Arch Ophthalmol 96:1431-1436, Font,R.L.,et al, 1978