PMC Articles for MedGen (Select 1808571) - PMC

Select item 103289031.

AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model

Ruizhi Deng, Eva Medico-Salsench, Anita Nikoncuk, Reshmi Ramakrishnan, Kristina Lanko, Nikolas A. Kühn, Herma C. van der Linde, Sarah Lor-Zade, Fatimah Albuainain, Yuwei Shi, Soheil Yousefi, Ivan Capo, Evita Medici van den Herik, Marjon van Slegtenhorst, Rick van Minkelen, Geert Geeven, Monique T. Mulder, George J. G. Ruijter, Dieter Lütjohann, Edwin H. Jacobs, Henry Houlden, Alistair T. Pagnamenta, Kay Metcalfe, Adam Jackson, Siddharth Banka, Lenika De Simone, Abigail Schwaede, Nancy Kuntz, Timothy Blake Palculict, Safdar Abbas, Muhammad Umair, Mohammed AlMuhaizea, Dilek Colak, Hanan AlQudairy, Maysoon Alsagob, Catarina Pereira, Roberta Trunzo, Vasiliki Karageorgou, Aida M. Bertoli-Avella, Peter Bauer, Arjan Bouman, Lies H. Hoefsloot, Tjakko J. van Ham, Mahmoud Issa, Maha S. Zaki, Joseph G. Gleeson, Rob Willemsen, Namik Kaya, Stefan T. Arold, Reza Maroofian, Leslie E. Sanderson, Tahsin Stefan Barakat

Acta Neuropathol. 2023; 146(2): 353–368. Published online 2023 Apr 29. doi: 10.1007/s00401-023-02579-9

PMCID:: PMC10328903

Article PDF–10M

Select item 83880432.

Long-term Clinical Follow-up of Patients with Familial Hypomagnesemia with Secondary Hypocalcemia

Elvan Bayramoğlu, Melikşah Keskin, Zehra Aycan, Şenay Savaş-Erdeve, Semra Çetinkaya

J Clin Res Pediatr Endocrinol. 2021 Sep; 13(3): 300–307. Published online 2021 Aug 23. doi: 10.4274/jcrpe.galenos.2021.2020.0192

PMCID:: PMC8388043

Article PDF–457K

Select item 69063083.

Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities

Renee Bend, Lior Cohen, Melissa T. Carter, Michael J. Lyons, Dmitriy Niyazov, Mohamad A. Mikati, Samantha K. Rojas, Richard E. Person, Yue Si, Ingrid M. Wentzensen, Regeneron Genetics Center, Erin Torti, Jennifer A. Lee, Kym M. Boycott, Lina Basel-Salmon, Carlos R. Ferreira, Claudia Gonzaga-Jauregui

Eur J Hum Genet. 2020 Jan; 28(1): 76–87. Published online 2019 Aug 8. doi: 10.1038/s41431-019-0487-1

PMCID:: PMC6906308

Article PDF–2.1M

Select item 46311084.

Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features

Muhammad Arshad Rafiq, Claire S Leblond, Muhammad Arif Nadeem Saqib, Akshita K. Vincent, Amirthagowri Ambalavanan, Falak Sher Khan, Muhammad Ayaz, Naseema Shaheen, Dan Spiegelman, Ghazanfar Ali, Muhammad Amin-ud-din, Sandra Laurent, Huda Mahmood, Mehtab Christian, Nadir Ali, Alanna Fennell, Zohair Nanjiani, Gerald Egger, Chantal Caron, Ahmed Waqas, Muhammad Ayub, Saima Rasheed, Baudouin Forgeot d’Arc, Amelie Johnson, Joyce So, Muhammad Qasim Brohi, Laurent Mottron, Muhammad Ansar, John B Vincent, Lan Xiong

BMC Med Genet. 2015; 16: 41. Published online 2015 Jun 25. doi: 10.1186/s12881-015-0183-0

PMCID:: PMC4631108

Article PDF–1.4M

Select item 12881255.

A Third Novel Locus for Primary Autosomal Recessive Microcephaly Maps to Chromosome 9q34

Leanne Moynihan, Andrew P. Jackson, Emma Roberts, Gulshan Karbani, Ian Lewis, Peter Corry, Gwen Turner, Robert F. Mueller, Nicholas J. Lench, C. Geoffrey Woods

Am J Hum Genet. 2000 Feb; 66(2): 724–727. Published online 2000 Jan 19. doi: 10.1086/302777

PMCID:: PMC1288125

Article PDF–157K

Select item 11993636.

Autosomal Recessive Primary Microcephaly (MCPH): A Review of Clinical, Molecular, and Evolutionary Findings

C. Geoffrey Woods, Jacquelyn Bond, Wolfgang Enard

Am J Hum Genet. 2005 May; 76(5): 717–728. Published online 2005 Mar 31. doi: 10.1086/429930

PMCID:: PMC1199363

Article PDF–160K

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