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Quoted phrase not found in phrase index: "Pontocerebellar hypoplasia, type 11"
Page 1
Pontocerebellar hypoplasia type 11: Does the genetic defect determine timing of cerebellar pathology?
Laugwitz L, Buchert R, Groeschel S, Riess A, Grimmel M, Beck-Wödl S, Sturm M, Gohla G, Döbler-Neumann M, Krägeloh-Mann I, Haack TB. Laugwitz L, et al. Eur J Med Genet. 2020 Jul;63(7):103938. doi: 10.1016/j.ejmg.2020.103938. Epub 2020 Apr 28. Eur J Med Genet. 2020. PMID: 32360255
Pontocerebellar hypoplasia (PCH) comprises a clinically and genetically heterogeneous group of disorders characterized by hypoplasia and degeneration of the cerebellum and ventral pons. ...Brain volume was evaluated over a disease course of 14 years using vol …
Pontocerebellar hypoplasia (PCH) comprises a clinically and genetically heterogeneous group of disorders characterized by hypo …
Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations.
Rudnik-Schöneborn S, Senderek J, Jen JC, Houge G, Seeman P, Puchmajerová A, Graul-Neumann L, Seidel U, Korinthenberg R, Kirschner J, Seeger J, Ryan MM, Muntoni F, Steinlin M, Sztriha L, Colomer J, Hübner C, Brockmann K, Van Maldergem L, Schiff M, Holzinger A, Barth P, Reardon W, Yourshaw M, Nelson SF, Eggermann T, Zerres K. Rudnik-Schöneborn S, et al. Neurology. 2013 Jan 29;80(5):438-46. doi: 10.1212/WNL.0b013e31827f0f66. Epub 2013 Jan 2. Neurology. 2013. PMID: 23284067 Free PMC article.
OBJECTIVES: Pontocerebellar hypoplasia with spinal muscular atrophy, also known as PCH1, is a group of autosomal recessive disorders characterized by generalized muscle weakness and global developmental delay commonly resulting in early death. Gene defects had been …
OBJECTIVES: Pontocerebellar hypoplasia with spinal muscular atrophy, also known as PCH1, is a group of autosomal recessive dis …
Natural course of pontocerebellar hypoplasia type 2A.
Sánchez-Albisua I, Frölich S, Barth PG, Steinlin M, Krägeloh-Mann I. Sánchez-Albisua I, et al. Orphanet J Rare Dis. 2014 May 5;9:70. doi: 10.1186/1750-1172-9-70. Orphanet J Rare Dis. 2014. PMID: 24886362 Free PMC article.
INTRODUCTION: Pontocerebellar hypoplasia Type 2 (PCH2) is a rare autosomal recessive condition, defined on MRI by a small cerebellum and ventral pons. Clinical features are severe developmental delay, microcephaly and dyskinesia.Ninety percent carry a p.A307S …
INTRODUCTION: Pontocerebellar hypoplasia Type 2 (PCH2) is a rare autosomal recessive condition, defined on MRI by a sma …
Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations.
Lax NZ, Alston CL, Schon K, Park SM, Krishnakumar D, He L, Falkous G, Ogilvy-Stuart A, Lees C, King RH, Hargreaves IP, Brown GK, McFarland R, Dean AF, Taylor RW. Lax NZ, et al. J Neuropathol Exp Neurol. 2015 Jul;74(7):688-703. doi: 10.1097/NEN.0000000000000209. J Neuropathol Exp Neurol. 2015. PMID: 26083569 Free PMC article.
Autosomal recessive mutations in the RARS2 gene encoding the mitochondrial arginyl-transfer RNA synthetase cause infantile-onset myoencephalopathy pontocerebellar hypoplasia type 6 (PCH6). We describe 2 sisters with novel compound heterozygous RARS2 mutations …
Autosomal recessive mutations in the RARS2 gene encoding the mitochondrial arginyl-transfer RNA synthetase cause infantile-onset myoencephal …
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 pathological findings disclosed anterior horn cell degeneration and pyramidal tract involvement in addit …
The combination of pontocerebellar hypoplasia and anterior horn cell degeneration is classified as pontocerebellar h …
Epilepsy in inherited metabolic disorders: a pediatric series.
Vitiello G, De Clemente V, Della Casa R, Romano A, Rosa M, Pascarella A, Riccitelli M, Parenti G, Del Giudice E. Vitiello G, et al. Minerva Pediatr. 2012 Oct;64(5):513-20. Minerva Pediatr. 2012. PMID: 22992533
Available neuroimages (CT/MRI) showed either normal findings (N.=6) or white matter abnormalities (N.=6), cerebral and/or cerebellar cortical atrophy (N.=11), hydrocephalus (N.=1), corpus callosum hypoplasia (N.=2), pontocerebellar hypoplasia (N.=1), gliosis in trig …
Available neuroimages (CT/MRI) showed either normal findings (N.=6) or white matter abnormalities (N.=6), cerebral and/or cerebellar cortica …
Severe intellectual disability, absence of language, epilepsy, microcephaly and progressive cerebellar atrophy related to the recurrent de novo variant p.(P139L) of the CAMK2B gene: A case report and brief review.
Rizzi S, Spagnoli C, Salerno GG, Frattini D, Caraffi SG, Trimarchi G, Moratti C, Pascarella R, Garavelli L, Fusco C. Rizzi S, et al. Am J Med Genet A. 2020 Nov;182(11):2675-2679. doi: 10.1002/ajmg.a.61803. Epub 2020 Sep 1. Am J Med Genet A. 2020. PMID: 32875707