PMC Articles for MedGen (Select 1778516) - PMC

Select item 78133291.

Two siblings with a novel variant of EXOSC3 extended phenotypic spectrum of pontocerebellar hypoplasia 1B to an exceptionally mild form

Weiyi Mu, Teresa Heller, Kristin W Barañano

BMJ Case Rep. 2021; 14(1): e236732. Published online 2021 Jan 18. doi: 10.1136/bcr-2020-236732

PMCID:: PMC7813329

Article PDF–291K

Select item 54452572.

ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism

Radha Desai, Ann E. Frazier, Romina Durigon, Harshil Patel, Aleck W. Jones, Ilaria Dalla Rosa, Nicole J. Lake, Alison G. Compton, Hayley S. Mountford, Elena J. Tucker, Alice L. R. Mitchell, Deborah Jackson, Abdul Sesay, Miriam Di Re, Lambert P. van den Heuvel, Derek Burke, David Francis, Sebastian Lunke, George McGillivray, Simone Mandelstam, Fanny Mochel, Boris Keren, Claude Jardel, Anne M. Turner, P. Ian Andrews, Jan Smeitink, Johannes N. Spelbrink, Simon J. Heales, Masakazu Kohda, Akira Ohtake, Kei Murayama, Yasushi Okazaki, Anne Lombès, Ian J. Holt, David R. Thorburn, Antonella Spinazzola

Brain. 2017 Jun; 140(6): 1595–1610. Published online 2017 May 24. doi: 10.1093/brain/awx094

PMCID:: PMC5445257

Article PDF–1.5M

Select item 50739053.

Novel homozygous RARS2 mutation in two siblings without pontocerebellar hypoplasia – further expansion of the phenotypic spectrum

S. Lühl, H. Bode, W. Schlötzer, M. Bartsakoulia, R. Horvath, A. Abicht, M. Stenzel, J. Kirschner, S. C. Grünert

Orphanet J Rare Dis. 2016; 11: 140. Published online 2016 Oct 21. doi: 10.1186/s13023-016-0525-9

PMCID:: PMC5073905

Article PDF–1.2M

Select item 44705234.

Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations

Nichola Z. Lax, Charlotte L. Alston, Katherine Schon, Soo-Mi Park, Deepa Krishnakumar, Langping He, Gavin Falkous, Amanda Ogilvy-Stuart, Christoph Lees, Rosalind H. King, Iain P. Hargreaves, Garry K. Brown, Robert McFarland, Andrew F. Dean, Robert W. Taylor

J Neuropathol Exp Neurol. 2015 Jul; 74(7): 688–703. Published online 2015 Jun 16. doi: 10.1097/NEN.0000000000000209

PMCID:: PMC4470523

Article PDF–36M

Select item 33517395.

Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient

Lydie Burglen, Sandra Chantot-Bastaraud, Catherine Garel, Mathieu Milh, Renaud Touraine, Ginevra Zanni, Florence Petit, Alexandra Afenjar, Cyril Goizet, Sabina Barresi, Aurélie Coussement, Christine Ioos, Leila Lazaro, Sylvie Joriot, Isabelle Desguerre, Didier Lacombe, Vincent des Portes, Enrico Bertini, Jean-Pierre Siffroi, Thierry Billette de Villemeur, Diana Rodriguez

Orphanet J Rare Dis. 2012; 7: 18. Published online 2012 Mar 27. doi: 10.1186/1750-1172-7-18

PMCID:: PMC3351739

Article PDF–1.4M

Select item 27252666.

Spinal Muscular Atrophy with Pontocerebellar Hypoplasia Is Caused by a Mutation in the VRK1 Gene

Paul Renbaum, Efrat Kellerman, Ranit Jaron, Dan Geiger, Reeval Segel, Ming Lee, Mary Claire King, Ephrat Levy-Lahad

Am J Hum Genet. 2009 Aug 14; 85(2): 281–289. doi: 10.1016/j.ajhg.2009.07.006

PMCID:: PMC2725266

Article PDF–1.3M

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