PMC Articles for MedGen (Select 480852) - PMC

Select item 56690161.

Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia

Conceição Bettencourt, Vincenzo Salpietro, Stephanie Efthymiou, Viorica Chelban, Deborah Hughes, Alan M. Pittman, Monica Federoff, Thomas Bourinaris, Martha Spilioti, Georgia Deretzi, Triantafyllia Kalantzakou, Henry Houlden, Andrew B. Singleton, Georgia Xiromerisiou

Orphanet J Rare Dis. 2017; 12: 172. Published online 2017 Nov 2. doi: 10.1186/s13023-017-0721-2

PMCID:: PMC5669016

Abstract Article PDF–4.7M

Select item 49298652.

Whole-genome sequencing identifies a novel ABCB7 gene mutation for X-linked congenital cerebellar ataxia in a large family of Mongolian ancestry

Maria S Protasova, Anastasia P Grigorenko, Tatiana V Tyazhelova, Tatiana V Andreeva, Denis A Reshetov, Fedor E Gusev, Alexander E Laptenko, Irina L Kuznetsova, Andrey Y Goltsov, Sergey A Klyushnikov, Sergey N Illarioshkin, Evgeny I Rogaev

Eur J Hum Genet. 2016 Apr; 24(4): 550–555. Published online 2015 Aug 5. doi: 10.1038/ejhg.2015.139

PMCID:: PMC4929865

Abstract Article PDF–1.5M

Select item 48647533.

RARS2 mutations in a sibship with infantile spasms

Adeline Ngoh, Jose Bras, Rita Guerreiro, Esther Meyer, Amy McTague, Eleanor Dawson, Kshitij Mankad, Roxana Gunny, Peter Clayton, Philippa B. Mills, Rachel Thornton, Ming Lai, Robert Forsyth, Manju A. Kurian

Epilepsia. 2016 May; 57(5): e97–e102. Published online 2016 Apr 8. doi: 10.1111/epi.13358

PMCID:: PMC4864753

Abstract Article PDF–339K

Select item 105469534.

Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies

Andrea Accogli, Maha S Zaki, Mohammed Al-Owain, Mansour Y Otaif, Adam Jackson, Emanuela Argilli, Kate E Chandler, Christian G E L De Goede, Tülün Cora, Javeria Raza Alvi, Atieh Eslahi, Mahsa Sadat Asl Mohajeri, Setareh Ashtiani, P Y Billie Au, Alicia Scocchia, Kirsi Alakurtti, Alistair T Pagnamenta, Mehran Beiraghi Toosi, Ehsan Ghayoor Karimiani, Majid Mojarrad, Fatemeh Arab, Fahrettin Duymuş, Morris H Scantlebury, Gözde Yeşil, Jill Anne Rosenfeld, Ayberk Türkyılmaz, Safiye Güneş Sağer, Tipu Sultan, Farah Ashrafzadeh, Tatheer Zahra, Fatima Rahman, Shazia Maqbool, Mohamed S Abdel-Hamid, Mahmoud Y Issa, Stephanie Efthymiou, Peter Bauer, Giovanni Zifarelli, Vincenzo Salpietro, Zuhair Al-Hassnan, Siddharth Banka, Elliot H Sherr, Joseph G Gleeson, Pasquale Striano, Henry Houlden, Mariasavina Severino, Reza Maroofian

Brain Commun. 2023; 5(5): fcad222. Published online 2023 Aug 17. doi: 10.1093/braincomms/fcad222

PMCID:: PMC10546953

Abstract Article PDF–5.0M

Select item 79603015.

Diffusion Tractography Biomarkers of Pediatric Cerebellar Hypoplasia/Atrophy: Preliminary Results Using Constrained Spherical Deconvolution

S. Fiori, A. Poretti, K. Pannek, R. Del Punta, R. Pasquariello, M. Tosetti, A. Guzzetta, S. Rose, G. Cioni, R. Battini

AJNR Am J Neuroradiol. 2016 May; 37(5): 917–923. doi: 10.3174/ajnr.A4607

PMCID:: PMC7960301

Abstract Article PDF–1.3M

Select item 63081026.

Decreased Wave V Amplitude in Auditory Brainstem Responses of Children with Cerebellar Lesions

Yuka Matsuura, Masayoshi Oguri, Yoshiaki Saito, Yasutaka Aoe, Ayame Ogawa, Shota Akiyama, Nanako Yasuda, Kengo Sato, Yoshihiro Maegaki, Yasuaki Hirooka

Yonago Acta Med. 2018 Dec; 61(4): 220–227. Published online 2018 Dec 27. doi: 10.33160/yam.2018.12.005

PMCID:: PMC6308102

Abstract Article PDF–1.6M

Select item 54950327.

Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral–facial–digital overlap syndrome

Jennifer J. Johnston, Chanjae Lee, Ingrid M. Wentzensen, Melissa A. Parisi, Molly M. Crenshaw, Julie C. Sapp, Jeffrey M. Gross, John B. Wallingford, Leslie G. Biesecker

Cold Spring Harb Mol Case Stud. 2017 Jul; 3(4): a001321. doi: 10.1101/mcs.a001321

PMCID:: PMC5495032

Abstract Article PDF–1.1M

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