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1974 1
2017 1
2023 1
2024 0

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Quoted phrase not found in phrase index: "Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment"
Page 1
Hypomyelination with Atrophy of Basal Ganglia and Cerebellum (HABC) Due to UFM1 Mutation in Roma Patients - Severe Early Encephalopathy with Stridor and Severe Hearing and Visual Impairment. A Single Center Experience.
Ivanov I, Pacheva I, Yordanova R, Sotkova I, Galabova F, Gaberova K, Panova M, Gheneva I, Tsvetanova T, Noneva K, Dimitrova D, Markov S, Sapundzhiev N, Bichev S, Savov A. Ivanov I, et al. CNS Neurol Disord Drug Targets. 2023;22(2):207-214. doi: 10.2174/1871527321666220221100704. CNS Neurol Disord Drug Targets. 2023. PMID: 35189806
Brain imaging revealed cortical atrophy (7/9), atrophic ventricular dilatation (4/9), macrocisterna magna (5/9), reduced myelination (6/6), corpus callosum atrophy (3/6) and abnormal putamen and caput nuclei caudati. ...CONCLUSION: Roma patients with severe e …
Brain imaging revealed cortical atrophy (7/9), atrophic ventricular dilatation (4/9), macrocisterna magna (5/9), reduced myeli …
Severe neurodegeneration, progressive cerebral volume loss and diffuse hypomyelination associated with a homozygous frameshift mutation in CSTB.
O'Brien A, Marshall CR, Blaser S, Ray PN, Yoon G. O'Brien A, et al. Eur J Hum Genet. 2017 Jun;25(6):775-778. doi: 10.1038/ejhg.2017.39. Epub 2017 Apr 5. Eur J Hum Genet. 2017. PMID: 28378817 Free PMC article.
Neither sibling ever developed head control, independent sitting or ambulation, and never developed speech. The elder sister had a seizure disorder. Both sisters had profound microcephaly and distinct facial features. On serial brain imaging, they had progres …
Neither sibling ever developed head control, independent sitting or ambulation, and never developed speech. The elder sister had a seizure …
Genetic syndromes associated with cerebral palsy.
Fisher RL, Russman BS. Fisher RL, et al. Clin Orthop Relat Res. 1974 Mar-Apr;(99):2-11. doi: 10.1097/00003086-197403000-00001. Clin Orthop Relat Res. 1974. PMID: 4825718 No abstract available.