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Quoted phrase not found in phrase index: "Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome"
Page 1
Early-onset progressive encephalopathy with migrant, continuous myoclonus.
Gaggero R, Baglietto MP, Curia R, De Negri M. Gaggero R, et al. Childs Nerv Syst. 1996 May;12(5):254-61. doi: 10.1007/BF00261806. Childs Nerv Syst. 1996. PMID: 8737801
Cortical atrophy is shown by CCT and MRI. Neurometabolic screening is not contributory. ...Moreover action myoclonus is recorded. During the first period of disease the EEG does not show any paroxysmal activity. As to the classification, this syndrome corresp …
Cortical atrophy is shown by CCT and MRI. Neurometabolic screening is not contributory. ...Moreover action myoclonus is recorded. Dur …
Childhood progressive spinal muscular atrophy with facioscapulo-humeral predominance, sensory and autonomic involvement and optic atrophy.
Schmitt HP, Härle M, Koelfen W, Nissen KH. Schmitt HP, et al. Brain Dev. 1994 Sep-Oct;16(5):386-92. doi: 10.1016/0387-7604(94)90126-0. Brain Dev. 1994. PMID: 7892958
Her brain was markedly atrophic and firm. Diffuse old ischemic necroses and neuronal loss with gliosis were found in the cortex, the neostriatum, the thalamus, parts of the lower brainstem, and the cerebellum. ...Although the loss of motor neurons in the spinal cord …
Her brain was markedly atrophic and firm. Diffuse old ischemic necroses and neuronal loss with gliosis were found in the corte …
Diverging patterns of amyloid deposition and hypometabolism in clinical variants of probable Alzheimer's disease.
Lehmann M, Ghosh PM, Madison C, Laforce R Jr, Corbetta-Rastelli C, Weiner MW, Greicius MD, Seeley WW, Gorno-Tempini ML, Rosen HJ, Miller BL, Jagust WJ, Rabinovici GD. Lehmann M, et al. Brain. 2013 Mar;136(Pt 3):844-58. doi: 10.1093/brain/aws327. Epub 2013 Jan 28. Brain. 2013. PMID: 23358601 Free PMC article.
The study included 17 patients with early-onset Alzheimer's disease (age at onset <65 years), 12 patients with logopenic variant primary progressive aphasia and 13 patients with posterior cortical atrophy [whole Alzheimer's disease gro …
The study included 17 patients with early-onset Alzheimer's disease (age at onset <65 years), 12 patients with logop …
Leigh-like syndrome with the T8993G mutation in the mitochondrial ATPase 6 gene: long-term follow-up discloses a slowly progressive course.
Sobreira C, Marques W Jr, Pontes Neto OM, Santos AC, Pina Neto JM, Barreira AA. Sobreira C, et al. J Neurol Sci. 2009 Mar 15;278(1-2):132-4. doi: 10.1016/j.jns.2008.11.023. Epub 2009 Jan 14. J Neurol Sci. 2009. PMID: 19144360
Clinical follow-up for 20 years revealed a peculiar pattern of slow disease progression, characterized by the addition of new minor deficits, while worsening of previous symptoms was mild. Brain MRI revealed cerebellar atrophy, diffuse demyelina …
Clinical follow-up for 20 years revealed a peculiar pattern of slow disease progression, characterized by the addition of new …
Respiratory chain deficiency in Alpers syndrome.
Gauthier-Villars M, Landrieu P, Cormier-Daire V, Jacquemin E, Chrétien D, Rötig A, Rustin P, Munnich A, de Lonlay P. Gauthier-Villars M, et al. Neuropediatrics. 2001 Jun;32(3):150-2. doi: 10.1055/s-2001-16614. Neuropediatrics. 2001. PMID: 11521212
Alpers syndrome is a progressive encephalopathy of early onset, characterized by rapid and severe developmental delay, intractable seizures and liver involvement in a previously healthy child. Here, we report on respiratory chain enzyme deficiency in t …
Alpers syndrome is a progressive encephalopathy of early onset, characterized by rapid and severe developmental …