PMC Links for Books (Select 1485330) - PMC

Select item 69523131.

First FHM3 mouse model shows spontaneous cortical spreading depolarizations

Nico A. Jansen, Anisa Dehghani, Margot M. L. Linssen, Cor Breukel, Else A. Tolner, Arn M. J. M. van den Maagdenberg

Ann Clin Transl Neurol. 2020 Jan; 7(1): 132–138. Published online 2019 Dec 27. doi: 10.1002/acn3.50971

PMCID:: PMC6952313

Article PDF–2.8M

Select item 62400302.

Increased susceptibility to cortical spreading depression and epileptiform activity in a mouse model for FHM2

Lieke Kros, Karin Lykke-Hartmann, Kamran Khodakhah

Sci Rep. 2018; 8: 16959. Published online 2018 Nov 16. doi: 10.1038/s41598-018-35285-8

PMCID:: PMC6240030

Article PDF–5.6M

Select item 54626643.

De novo exonic duplication of ATP1A2 in Italian patient with hemiplegic migraine: a case report

Stella Gagliardi, Gaetano Salvatore Grieco, Francesca Gualandi, Luisa Maria Caniatti, Elisabetta Groppo, Marialuisa Valente, Giuseppe Nappi, Marcella Neri, Cristina Cereda

J Headache Pain. 2017; 18(1): 63. Published online 2017 Jun 7. doi: 10.1186/s10194-017-0770-x

Correction in:: J Headache Pain. 2017; 18(1): 68.

PMCID:: PMC5462664

Article PDF–799K

Select item 54293604.

The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies

Peter D. Stenson, Matthew Mort, Edward V. Ball, Katy Evans, Matthew Hayden, Sally Heywood, Michelle Hussain, Andrew D. Phillips, David N. Cooper

Hum Genet. 2017; 136(6): 665–677. Published online 2017 Mar 27. doi: 10.1007/s00439-017-1779-6

PMCID:: PMC5429360

Article PDF–1.1M

Select item 49740675.

De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies

Epi4K Consortiumude.aibmuloc@k4ipe

Am J Hum Genet. 2016 Aug 4; 99(2): 287–298. Published online 2016 Jul 28. doi: 10.1016/j.ajhg.2016.06.003

PMCID:: PMC4974067

Article PDF–213K

Select item 47319256.

Timing, rates and spectra of human germline mutation

Raheleh Rahbari, Arthur Wuster, Sarah J. Lindsay, Robert J. Hardwick, Ludmil B. Alexandrov, Saeed Al Turki, Anna Dominiczak, Andrew Morris, David Porteous, Blair Smith, Michael R. Stratton, UK10K Consortium, Matthew E. Hurles

Nat Genet. Author manuscript; available in PMC 2016 Jun 14.

Published in final edited form as: Nat Genet. 2016 Feb; 48(2): 126–133. Published online 2015 Dec 14. doi: 10.1038/ng.3469

PMCID:: PMC4731925

Article PDF–1.6M

Select item 45447537.

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

Article PDF–960K

Select item 31217578.

Increased Susceptibility to Cortical Spreading Depression in the Mouse Model of Familial Hemiplegic Migraine Type 2

Loredana Leo, Lisa Gherardini, Virginia Barone, Maurizio De Fusco, Daniela Pietrobon, Tommaso Pizzorusso, Giorgio Casari

PLoS Genet. 2011 Jun; 7(6): e1002129. Published online 2011 Jun 23. doi: 10.1371/journal.pgen.1002129

PMCID:: PMC3121757

Article PDF–2.0M

Select item 13777069.

Recurrence of the T666M calcium channel CACNA1A gene mutation in familial hemiplegic migraine with progressive cerebellar ataxia.

A Ducros, C Denier, A Joutel, K Vahedi, A Michel, F Darcel, M Madigand, D Guerouaou, F Tison, J Julien, E Hirsch, F Chedru, C Bisgård, G Lucotte, P Després, C Billard, M A Barthez, G Ponsot, M G Bousser, E Tournier-Lasserve

Am J Hum Genet. 1999 Jan; 64(1): 89–98. doi: 10.1086/302192

PMCID:: PMC1377706

Summary PDF–1.0M

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