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Items: 1 to 20 of 67

1.

Clinical Reasoning: West syndrome, pontocerebellar hypoplasia, and hypomyelination in a 6-month-old boy.

Bindu PS, Nagappa M, Chiplunkar S, Govindaraj P, Mathuranath PS, Sinha S, Taly AB.

Neurology. 2018 Oct 23;91(17):e1652-e1656. doi: 10.1212/WNL.0000000000006381. No abstract available.

PMID:
30348860
2.

Developmental outcomes in children with congenital cerebellar malformations.

Pinchefsky EF, Accogli A, Shevell MI, Saint-Martin C, Srour M.

Dev Med Child Neurol. 2019 Mar;61(3):350-358. doi: 10.1111/dmcn.14059. Epub 2018 Oct 15.

PMID:
30320441
3.

A de novo in-frame deletion of CASK gene causes early onset infantile spasms and supratentorial cerebral malformation in a female patient.

Bozarth X, Foss K, Mefford HC.

Am J Med Genet A. 2018 Nov;176(11):2425-2429. doi: 10.1002/ajmg.a.40429. Epub 2018 Oct 5.

PMID:
30289607
4.

De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophy.

Wojcik MH, Okada K, Prabhu SP, Nowakowski DW, Ramsey K, Balak C, Rangasamy S, Brownstein CA, Schmitz-Abe K, Cohen JS, Fatemi A, Shi J, Grant EP, Narayanan V, Ho HH, Agrawal PB.

Am J Med Genet A. 2018 Dec;176(12):2623-2629. doi: 10.1002/ajmg.a.40493. Epub 2018 Aug 27.

5.

A Chemical Biology Approach to Model Pontocerebellar Hypoplasia Type 1B (PCH1B).

François-Moutal L, Jahanbakhsh S, Nelson ADL, Ray D, Scott DD, Hennefarth MR, Moutal A, Perez-Miller S, Ambrose AJ, Al-Shamari A, Coursodon P, Meechoovet B, Reiman R, Lyons E, Beilstein M, Chapman E, Morris QD, Van Keuren-Jensen K, Hughes TR, Khanna R, Koehler C, Jen J, Gokhale V, Khanna M.

ACS Chem Biol. 2018 Oct 19;13(10):3000-3010. doi: 10.1021/acschembio.8b00745. Epub 2018 Sep 6.

6.

CUGC for pontocerebellar hypoplasia type 9 and spastic paraplegia-63.

Marsh APL, Novarino G, Lockhart PJ, Leventer RJ.

Eur J Hum Genet. 2019 Jan;27(1):161-166. doi: 10.1038/s41431-018-0231-2. Epub 2018 Aug 8.

PMID:
30089829
7.

Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis.

van Dijk T, Ferdinandusse S, Ruiter JPN, Alders M, Mathijssen IB, Parboosingh JS, Innes AM, Meijers-Heijboer H, Poll-The BT, Bernier FP, Wanders RJA, Lamont RE, Baas F.

Eur J Hum Genet. 2018 Dec;26(12):1752-1758. doi: 10.1038/s41431-018-0233-0. Epub 2018 Aug 8.

8.

Sarcomeric disorganization and nemaline bodies in muscle biopsies of patients with EXOSC3-related type 1 pontocerebellar hypoplasia.

Pinto MM, Monges S, Malfatti E, Lubieniecki F, Lornage X, Alias L, Labasse C, Madelaine A, Fardeau M, Laporte J, Tizzano EF, Romero NB.

Muscle Nerve. 2019 Jan;59(1):137-141. doi: 10.1002/mus.26305. Epub 2018 Dec 16.

PMID:
30025162
9.

Three human aminoacyl-tRNA synthetases have distinct sub-mitochondrial localizations that are unaffected by disease-associated mutations.

González-Serrano LE, Karim L, Pierre F, Schwenzer H, Rötig A, Munnich A, Sissler M.

J Biol Chem. 2018 Aug 31;293(35):13604-13615. doi: 10.1074/jbc.RA118.003400. Epub 2018 Jul 13.

10.

Functional characterization of biallelic RTTN variants identified in an infant with microcephaly, simplified gyral pattern, pontocerebellar hypoplasia, and seizures.

Wambach JA, Wegner DJ, Yang P, Shinawi M, Baldridge D, Betleja E, Shimony JS, Spencer D, Hackett BP, Andrews MV, Ferkol T, Dutcher SK, Mahjoub MR, Cole FS.

Pediatr Res. 2018 Sep;84(3):435-441. doi: 10.1038/s41390-018-0083-z. Epub 2018 Jun 4.

11.

Conventional MRI.

Arrigoni F, Calloni S, Huisman TAGM, Chiapparini L.

Handb Clin Neurol. 2018;154:219-234. doi: 10.1016/B978-0-444-63956-1.00013-8. Review.

PMID:
29903441
12.

Cerebellar networks and neuropathology of cerebellar developmental disorders.

Sarnat HB.

Handb Clin Neurol. 2018;154:109-128. doi: 10.1016/B978-0-444-63956-1.00007-2. Review.

PMID:
29903435
13.

What's new in pontocerebellar hypoplasia? An update on genes and subtypes.

van Dijk T, Baas F, Barth PG, Poll-The BT.

Orphanet J Rare Dis. 2018 Jun 15;13(1):92. doi: 10.1186/s13023-018-0826-2. Review.

14.

Fetal cerebellar disorders.

Lerman-Sagie T, Prayer D, Stöcklein S, Malinger G.

Handb Clin Neurol. 2018;155:3-23. doi: 10.1016/B978-0-444-64189-2.00001-9. Review.

PMID:
29891067
15.

B3GALNT2-Related Dystroglycanopathy: Expansion of the Phenotype with Novel Mutation Associated with Muscle-Eye-Brain Disease, Walker-Warburg Syndrome, Epileptic Encephalopathy-West Syndrome, and Sensorineural Hearing Loss.

Al Dhaibani MA, El-Hattab AW, Ismayl O, Suleiman J.

Neuropediatrics. 2018 Aug;49(4):289-295. doi: 10.1055/s-0038-1651519. Epub 2018 May 23. Review.

PMID:
29791932
16.

Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy.

Burns DT, Donkervoort S, Müller JS, Knierim E, Bharucha-Goebel D, Faqeih EA, Bell SK, AlFaifi AY, Monies D, Millan F, Retterer K, Dyack S, MacKay S, Morales-Gonzalez S, Giunta M, Munro B, Hudson G, Scavina M, Baker L, Massini TC, Lek M, Hu Y, Ezzo D, AlKuraya FS, Kang PB, Griffin H, Foley AR, Schuelke M, Horvath R, Bönnemann CG.

Am J Hum Genet. 2018 May 3;102(5):858-873. doi: 10.1016/j.ajhg.2018.03.011.

17.

Consequences of mutations and inborn errors of selenoprotein biosynthesis and functions.

Fradejas-Villar N.

Free Radic Biol Med. 2018 Nov 1;127:206-214. doi: 10.1016/j.freeradbiomed.2018.04.572. Epub 2018 Apr 27. Review.

PMID:
29709707
18.

Novel CASK mutations in cases with syndromic microcephaly.

Cristofoli F, Devriendt K, Davis EE, Van Esch H, Vermeesch JR.

Hum Mutat. 2018 Jul;39(7):993-1001. doi: 10.1002/humu.23536. Epub 2018 May 11.

19.

Pontocerebellar hypoplasia type 1 for the neuropediatrician: Genotype-phenotype correlations and diagnostic guidelines based on new cases and overview of the literature.

Ivanov I, Atkinson D, Litvinenko I, Angelova L, Andonova S, Mumdjiev H, Pacheva I, Panova M, Yordanova R, Belovejdov V, Petrova A, Bosheva M, Shmilev T, Savov A, Jordanova A.

Eur J Paediatr Neurol. 2018 Jul;22(4):674-681. doi: 10.1016/j.ejpn.2018.03.011. Epub 2018 Apr 3. Review.

PMID:
29656927
20.

A SEPSECS mutation in a 23-year-old woman with microcephaly and progressive cerebellar ataxia.

van Dijk T, Vermeij JD, van Koningsbruggen S, Lakeman P, Baas F, Poll-The BT.

J Inherit Metab Dis. 2018 Sep;41(5):897-898. doi: 10.1007/s10545-018-0151-x. Epub 2018 Feb 20.

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