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Select item 112497541.

The Diagnostic Value of Whole-Exome Sequencing in a Spectrum of Rare Neurological Disorders Associated with Cerebellar Atrophy

Engy A. Ashaat, Hoda A. Ahmed, Nesma M. Elaraby, Alaaeldin Fayez, Ammal M. Metwally, Mona K. Mekkawy, Dalia Farouk Hussen, Neveen A. Ashaat, Rasha M. Elhossini, Heba Ahmed ElAwady, Randa H. A. Abdelgawad, Mona El Gammal, Mohamed Ahmed Al Kersh, Dina Amin Saleh

Mol Neurobiol. 2024; 61(8): 4949–4961. Published online 2023 Dec 28. doi: 10.1007/s12035-023-03866-y

PMCID:: PMC11249754

Abstract Article PDF–1.5M

Select item 112451572.

Multiscale modeling uncovers 7q11.23 copy number variation–dependent changes in ribosomal biogenesis and neuronal maturation and excitability

Marija Mihailovich, Pierre-Luc Germain, Reinald Shyti, Davide Pozzi, Roberta Noberini, Yansheng Liu, Davide Aprile, Erika Tenderini, Flavia Troglio, Sebastiano Trattaro, Sonia Fabris, Ummi Ciptasari, Marco Tullio Rigoli, Nicolò Caporale, Giuseppe D’Agostino, Filippo Mirabella, Alessandro Vitriolo, Daniele Capocefalo, Adrianos Skaros, Agnese Virginia Franchini, Sara Ricciardi, Ida Biunno, Antonino Neri, Nael Nadif Kasri, Tiziana Bonaldi, Rudolf Aebersold, Michela Matteoli, Giuseppe Testa

J Clin Invest. 2024 Jul 15; 134(14): e168982. Published online 2024 Jul 15. doi: 10.1172/JCI168982

PMCID:: PMC11245157

Abstract Article PDF–7.2M

Select item 112418403.

Fragile X Syndrome and FMR1 premutation: results from a survey on associated conditions and treatment priorities in Italy

Federica Alice Maria Montanaro, Paolo Alfieri, Cristina Caciolo, Alessia Brunetti, Alessandra Airoldi, Anna de Florio, Luigi Tinella, Andrea Bosco, Stefano Vicari

Orphanet J Rare Dis. 2024; 19: 264. Published online 2024 Jul 12. doi: 10.1186/s13023-024-03272-0

PMCID:: PMC11241840

Abstract Article PDF–1.4M

Select item 112414094.

A Case of CDKL5 Deficiency Due to an X Chromosome Pericentric Inversion: Delineation of Structural Rearrangements as an Overlooked Recurrent Pathological Mechanism

Antonietta Lombardo, Lorenzo Sinibaldi, Silvia Genovese, Giorgia Catino, Valerio Mei, Daniele Pompili, Ester Sallicandro, Roberto Falasca, Maria Teresa Liambo, Maria Vittoria Faggiano, Maria Cristina Roberti, Maddalena Di Donato, Anna Vitelli, Serena Russo, Rosalinda Giannini, Alessia Micalizzi, Nicola Pietrafusa, Maria Cristina Digilio, Antonio Novelli, Lucia Fusco, Viola Alesi

Int J Mol Sci. 2024 Jul; 25(13): 6912. Published online 2024 Jun 24. doi: 10.3390/ijms25136912

PMCID:: PMC11241409

Abstract Article PDF–3.8M

Select item 112410925.

Col4a2 Mutations Contribute to Infantile Epileptic Spasm Syndrome and Neuroinflammation

Chunhui Hu, Deying Liu, Hua Wang

Int J Med Sci. 2024; 21(9): 1756–1768. Published online 2024 Jul 2. doi: 10.7150/ijms.97164

PMCID:: PMC11241092

Abstract Article PDF–5.1M

Select item 112392626.

Intraventricular Cerliponase Alfa Treatment in a Patient with Advanced Neuronal Ceroid Lipofuscinosis Type 2

Saki Nakashima, Masashi Hamada, Tomohiko Kimura, Shuichi Tanifuji, Akiko Takahashi, Daiki Yashita, Yu Kakimoto, Takashi Matsukawa, Hiroyuki Ishiura, Tatsushi Toda

Intern Med. 2024 Jun 15; 63(12): 1807–1812. Published online 2023 Nov 6. doi: 10.2169/internalmedicine.2563-23

PMCID:: PMC11239262

Abstract Article PDF–1.5M

Select item 112391837.

Tuberous Sclerosis Complex and the kidneys: what nephrologists need to know

Aline Grosskopf Monich, John J. Bissler, Fellype Carvalho Barreto

J Bras Nefrol. 2024 Jul-Sep; 46(3): e20240013. Published online 2024 Jul 5. doi: 10.1590/2175-8239-JBN-2024-0013en

PMCID:: PMC11239183

Abstract Article PDF–1.8M

Select item 112380318.

Health Care Costs After Genome-Wide Sequencing for Children With Rare Diseases in England and Canada

Deirdre Weymann, John Buckell, Patrick Fahr, Rosalie Loewen, Morgan Ehman, Samantha Pollard, Jan M. Friedman, Sylvia Stockler-Ipsiroglu, Alison M. Elliott, Sarah Wordsworth, James Buchanan, Dean A. Regier

JAMA Netw Open. 2024 Jul; 7(7): e2420842. Published online 2024 Jul 10. doi: 10.1001/jamanetworkopen.2024.20842

PMCID:: PMC11238031

Abstract Article

Select item 112333099.

Neurological symptoms in adults with Gaucher disease: a systematic review

Gabriele Imbalzano, Claudia Ledda, Alberto Romagnolo, Anna Covolo, Leonardo Lopiano, Carlo Alberto Artusi

J Neurol. 2024; 271(7): 3897–3907. Published online 2024 May 21. doi: 10.1007/s00415-024-12439-5

PMCID:: PMC11233309

Abstract Article PDF–1.3M

Select item 1122822710.

Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability

Claire E L Smith, Virginie Laugel-Haushalter, Ummey Hany, Sunayna Best, Rachel L Taylor, James A Poulter, Saskia B Wortmann, Rene G Feichtinger, Johannes A Mayr, Suhaila Al Bahlani, Georgios Nikolopoulos, Alice Rigby, Graeme C Black, Christopher M Watson, Sahar Mansour, Chris F Inglehearn, Alan J Mighell, Agnès Bloch-Zupan

J Med Genet. 2024 Jul; 61(7): 689–698. Published online 2024 Mar 8. doi: 10.1136/jmg-2023-109728

PMCID:: PMC11228227

Abstract Article PDF–3.7M

Select item 1122820211.

ZFHX3 variants cause childhood partial epilepsy and infantile spasms with favourable outcomes

Ming-Feng He, Li-Hong Liu, Sheng Luo, Juan Wang, Jia-Jun Guo, Peng-Yu Wang, Qiong-Xiang Zhai, Su-Li He, Dong-Fang Zou, Xiao-Rong Liu, Bing-Mei Li, Hai-Yan Ma, Jing-Da Qiao, Peng Zhou, Na He, Yong-Hong Yi, Wei-Ping Liao

J Med Genet. 2024 Jul; 61(7): 652–660. Published online 2024 Mar 20. doi: 10.1136/jmg-2023-109725

PMCID:: PMC11228202

Abstract Article PDF–4.4M

Select item 1122507512.

A compound heterozygote case of glutaric aciduria type II in a patient carrying a novel candidate variant in ETFDH gene: A case report and literature review on compound heterozygote cases

Mohammad Reza Seyedtaghia, Reza Jafarzadeh‐Esfehani, Seyedmojtaba Hosseini, Sepehr Kobravi, Mahdis Hakkaki, Yalda Nilipour

Mol Genet Genomic Med. 2024 Jul; 12(7): e2489. Published online 2024 Jul 5. doi: 10.1002/mgg3.2489

PMCID:: PMC11225075

Abstract Article PDF–2.1M

Select item 1122496313.

A case of inherited glycosylphosphatidylinositol deficiency caused by PGAP3 variant with uniparental isodisomy on chromosome 17

Takeo Mukai, Shota Kato, Hiroyuki Tanaka, Yukiko Kuroda, Hiroki Kitaoka, Atsushi Ito, Yoshihiko Shitara, Kohei Kashima, Hirokazu Takami, Naoto Takahashi, Motohiro Kato

Mol Genet Genomic Med. 2024 Jul; 12(7): e2452. Published online 2024 Jul 5. doi: 10.1002/mgg3.2452

PMCID:: PMC11224963

Abstract Article PDF–3.3M

Select item 1122113014.

Variants in HCFC1 and MN1 genes causing intellectual disability in two Pakistani families

Syeda Iqra Hussain, Nazif Muhammad, Shahbaz Ali Shah, Adil u Rehman, Sher Alam Khan, Shamim Saleha, Yar Muhammad Khan, Noor Muhammad, Saadullah Khan, Naveed Wasif

BMC Med Genomics. 2024; 17: 176. Published online 2024 Jul 2. doi: 10.1186/s12920-024-01943-2