PMC Links for Books (Select 5357186) - PMC

Select item 74972891.

The Human Gene Mutation Database (HGMD^®): optimizing its use in a clinical diagnostic or research setting

Peter D. Stenson, Matthew Mort, Edward V. Ball, Molly Chapman, Katy Evans, Luisa Azevedo, Matthew Hayden, Sally Heywood, David S. Millar, Andrew D. Phillips, David N. Cooper

Hum Genet. 2020; 139(10): 1197–1207. Published online 2020 Jun 28. doi: 10.1007/s00439-020-02199-3

PMCID:: PMC7497289

Abstract Article PDF–2.5M

Select item 65572242.

Achieving consensus advice for paediatricians and other health professionals: on prevention, recognition and management of conflict in paediatric practice

Mike Linney, Richard D W Hain, Dominic Wilkinson, Peter-Marc Fortune, Sarah Barclay, Vic Larcher, Jacqueline Fitzgerald, Emily Arkell

Arch Dis Child. 2019 May; 104(5): 413–416. Published online 2019 Apr 18. doi: 10.1136/archdischild-2018-316485

PMCID:: PMC6557224

Article PDF–215K

Select item 60401733.

Genetics and Therapies for GM2 Gangliosidosis

María Begoña Cachón-González, Eva Zaccariotto, Timothy Martin Cox

Curr Gene Ther. 2018 Apr; 18(2): 68–89. Published online 2018 Apr. doi: 10.2174/1566523218666180404162622

PMCID:: PMC6040173

Abstract Article PDF–6.3M

Select item 58742044.

GM2 Activator Deficiency Caused by a Homozygous Exon 2 Deletion in GM2A

Patricia L. Hall, Regina Laine, John J. Alexander, Arunkanth Ankala, Lisa A. Teot, Hart G. W. Lidov, Irina Anselm

JIMD Rep. 2018; 38: 61–65. Published online 2017 May 25. doi: 10.1007/8904_2017_31

PMCID:: PMC5874204

Abstract Article PDF–286K

Select item 58323555.

Distinct progression patterns of brain disease in infantile and juvenile gangliosidoses: Volumetric quantitative MRI study

Igor Nestrasil, Alia Ahmed, Josephine M. Utz, Kyle Rudser, Chester B. Whitley, Jeanine R. Jarnes-Utz

Mol Genet Metab. Author manuscript; available in PMC 2018 Mar 1.

Published in final edited form as: Mol Genet Metab. 2018 Feb; 123(2): 97–104. Published online 2017 Dec 20. doi: 10.1016/j.ymgme.2017.12.432

PMCID:: PMC5832355

Abstract Article PDF–2.9M

Select item 53889326.

Atypical juvenile presentation of G_M2 gangliosidosis AB in a patient compound-heterozygote for c.259G > T and c.164C > T mutations in the GM2A gene

Carla Martins, Catherine Brunel-Guitton, Anne Lortie, France Gauvin, Carlos R. Morales, Grant A. Mitchell, Alexey V. Pshezhetsky

Mol Genet Metab Rep. 2017 Jun; 11: 24–29. Published online 2017 Apr 7. doi: 10.1016/j.ymgmr.2017.01.017

PMCID:: PMC5388932

Abstract Article PDF–427K

Select item 50591847.

GM2-Gangliosidosis, AB Variant: Clinical, Ophthalmological, MRI, and Molecular Findings

Deborah Renaud, Michael Brodsky

JIMD Rep. 2016; 25: 83–86. Published online 2015 Jun 17. doi: 10.1007/8904_2015_469

PMCID:: PMC5059184

Abstract Article PDF–142K

Select item 49395868.

GM2 gangliosidosis AB variant: novel mutation from India – a case report with a review

Jayesh Sheth, Chaitanya Datar, Mehul Mistri, Riddhi Bhavsar, Frenny Sheth, Krati Shah

BMC Pediatr. 2016; 16: 88. Published online 2016 Jul 11. doi: 10.1186/s12887-016-0626-6

PMCID:: PMC4939586

Abstract Article PDF–722K

Select item 45447539.

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm

Genet Med. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30

PMCID:: PMC4544753

Abstract Article PDF–960K

Select item 450242610.

Mutation in GM2A Leads to a Progressive Chorea-dementia Syndrome

Mustafa A. Salih, Mohammed Z. Seidahmed, Heba Y. El Khashab, Muddathir H. A. Hamad, Thomas M. Bosley, Sabrina Burn, Angela Myers, Megan L. Landsverk, Patricia L. Crotwell, Kaya Bilguvar, Shrikant Mane, Michael C. Kruer

Tremor Other Hyperkinet Mov (N Y) 2015; 5: 306. Published online 2015 Jul 9. doi: 10.7916/D8D21WQ0

PMCID:: PMC4502426

Abstract Article PDF–996K

Select item 191482111.

Molecular analysis of a GM2-activator deficiency in two patients with GM2-gangliosidosis AB variant.

U. Schepers, G. Glombitza, T. Lemm, A. Hoffmann, A. Chabas, P. Ozand, K. Sandhoff

Am J Hum Genet. 1996 Nov; 59(5): 1048–1056.

PMCID:: PMC1914821

Summary Page Browse PDF–1.8M

Select item 168259312.

A Cys138-to-Arg substitution in the GM2 activator protein is associated with the AB variant form of GM2 gangliosidosis.

B Xie, W Wang, D J Mahuran

Am J Hum Genet. 1992 May; 50(5): 1046–1052.

PMCID:: PMC1682593

Summary Page Browse PDF–1.4M

Select item 137807713.

Structure of the GM2A gene: identification of an exon 2 nonsense mutation and a naturally occurring transcript with an in-frame deletion of exon 2.

B Chen, B Rigat, C Curry, D J Mahuran

Am J Hum Genet. 1999 Jul; 65(1): 77–87. doi: 10.1086/302463

PMCID:: PMC1378077

Summary PDF–536K

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