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Quoted phrase not found in phrase index: "Pontocerebellar hypoplasia, type 15"
Page 1
Autopsy case of later-onset pontocerebellar hypoplasia type 1: pontine atrophy and pyramidal tract involvement.
Sanefuji M, Kira R, Matsumoto K, Gondo K, Torisu H, Kawakami H, Iwaki T, Hara T. Sanefuji M, et al. J Child Neurol. 2010 Nov;25(11):1429-34. doi: 10.1177/0883073810372991. Epub 2010 Jun 17. J Child Neurol. 2010. PMID: 20558670 Free article.
The combination of pontocerebellar hypoplasia and anterior horn cell degeneration is classified as pontocerebellar hypoplasia type 1. ...The present case suggests that the degenerative pattern of later-onset pontocerebellar hypoplasia …
The combination of pontocerebellar hypoplasia and anterior horn cell degeneration is classified as pontocerebellar h …
Fatal outcome in a case of pontocerebellar hypoplasia type 2.
Grellner W, Rohde K, Wilske J. Grellner W, et al. Forensic Sci Int. 2000 Sep 11;113(1-3):165-72. doi: 10.1016/s0379-0738(00)00270-x. Forensic Sci Int. 2000. PMID: 10978619
Pontocerebellar hypoplasia (PCH) is a very rare congenital (autosomal recessive) condition with fetal onset. ...Autopsy disclosed a severe aspiration of gastric contents as the final cause of death. The neuropathological examination confirmed PCH type 2 (acco …
Pontocerebellar hypoplasia (PCH) is a very rare congenital (autosomal recessive) condition with fetal onset. ...Autopsy disclo …
Posterior fossa imaging in 158 children with ataxia.
Boddaert N, Desguerre I, Bahi-Buisson N, Romano S, Valayannopoulos V, Saillour Y, Seidenwurm D, Grevent D, Berteloot L, Lebre AS, Zilbovicius M, Puget S, Salomon R, Attie-Bitach T, Munnich A, Brunelle F, de Lonlay P. Boddaert N, et al. J Neuroradiol. 2010 Oct;37(4):220-30. doi: 10.1016/j.neurad.2009.12.009. Epub 2010 Apr 7. J Neuroradiol. 2010. PMID: 20378176
RESULTS: In the vermian dysgenesis group, a specific genetic diagnosis was obtained in eight children (8/27) and all of the mutated genes (AHI1 (JBS3), CEP290 (JBS5), TMEM67 (JBS6), and RPGRIP1L (JBS7)) are involved in primary cilia function. In the group of pontocerebellar …
RESULTS: In the vermian dysgenesis group, a specific genetic diagnosis was obtained in eight children (8/27) and all of the mutated genes (A …
Unusual clinical features in infantile Spinal Muscular Atrophies.
Guillot N, Cuisset JM, Cuvellier JC, Hurtevent JF, Joriot S, Vallee L. Guillot N, et al. Brain Dev. 2008 Mar;30(3):169-78. doi: 10.1016/j.braindev.2007.07.008. Epub 2007 Sep 4. Brain Dev. 2008. PMID: 17804187
RESULTS: Forty-eight children suffered from classical SMA and 15 from atypical SMA, including 4 distal SMA, 2 scapuloperoneal SMA, one pontocerebellar hypoplasia type I, 7 neurogenic arthrogryposis multiplex congenita (2 of them associated with a centr …
RESULTS: Forty-eight children suffered from classical SMA and 15 from atypical SMA, including 4 distal SMA, 2 scapuloperoneal SMA, on …
Genetic and phenotypic features of patients with childhood ataxias diagnosed by next-generation sequencing gene panel.
Arslan EA, Öncel İ, Ceylan AC, Topçu M, Topaloğlu H. Arslan EA, et al. Brain Dev. 2020 Jan;42(1):6-18. doi: 10.1016/j.braindev.2019.08.004. Epub 2019 Sep 4. Brain Dev. 2020. PMID: 31493945
Genetically, infantile neuroaxonal dystrophy (7/21), ataxia with oculomotor apraxia type 1 (5/21), neuronal ceroid lipofuscinosis type 5 (2/21), ataxia with oculomotor apraxia type 2 (1/21), Lafora disease (1/21), tremor ataxia syndrome accompanying central h …
Genetically, infantile neuroaxonal dystrophy (7/21), ataxia with oculomotor apraxia type 1 (5/21), neuronal ceroid lipofuscinosis …