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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
Neuropathological Findings in a Case of IFIH1-Related Aicardi-Goutieres Syndrome.
Gilani A, Adang LA, Vanderver A, Collins A, Kleinschmidt-DeMasters BK. Gilani A, et al. Pediatr Dev Pathol. 2019 Nov-Dec;22(6):566-570. doi: 10.1177/1093526619837797. Epub 2019 Apr 5. Pediatr Dev Pathol. 2019. PMID: 30952201 Free PMC article.
Aicardi-Goutieres syndrome (AGS) is a rare syndrome characterized by calcification, diffuse demyelination, and variable degree of brain atrophy. ...We report neuropathological findings in a second case of AGS with a known mutation in IFIH1 gene. …
Aicardi-Goutieres syndrome (AGS) is a rare syndrome characterized by calcification, diffuse demyelination, and variable …
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 …
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-onset spinocerebellar syndrome associated with massive polyglucosan body deposition.
Felice KJ, Grunnet ML, Rao KR, Wolfson LI. Felice KJ, et al. Acta Neurol Scand. 1997 Jan;95(1):60-4. doi: 10.1111/j.1600-0404.1997.tb00070.x. Acta Neurol Scand. 1997. PMID: 9048988
We report the unique clinicopathological findings in an early onset spinocerebellar syndrome associated with massive PB deposition. ...We report the clinical and autopsy findings. RESULTS: The autopsy findings were remarkable for diffuse cortical and c …
We report the unique clinicopathological findings in an early onset spinocerebellar syndrome associated with massive PB …
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 …