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Items: 1 to 20 of 65

1.
Expanding the clinical and genetic heterogeneity of SPAX5
Claudia Dosi, Daniele Galatolo, Anna Rubegni, Stefano Doccini, Rosa Pasquariello, Claudia Nesti, Federico Sicca, Melissa Barghigiani, Roberta Battini, Alessandra Tessa, Filippo M. Santorelli
Ann Clin Transl Neurol. 2020 Apr; 7(4): 595–601. Published online 2020 Apr 1. doi: 10.1002/acn3.51024
PMCID:
PMC7187698
AbstractArticlePDF–1.2M
2.
Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation
Susanna Tulli, Andrea Del Bondio, Valentina Baderna, Davide Mazza, Franca Codazzi, Tyler Mark Pierson, Alessandro Ambrosi, Dagmar Nolte, Cyril Goizet, Camilo Toro, Jonathan Baets, Tine Deconinck, Peter DeJonghe, Paola Mandich, Giorgio Casari, Francesca Maltecca
J Med Genet. 2019 Aug; 56(8): 499–511. Published online 2019 Mar 25. doi: 10.1136/jmedgenet-2018-105766
PMCID:
PMC6678042
AbstractArticlePDF–7.6M
3.
Sustained OMA1-mediated integrated stress response is beneficial for spastic ataxia type 5
Camilla Aurora Franchino, Martina Brughera, Valentina Baderna, Daniele De Ritis, Alessandra Rocco, Sara Seneca, Luc Regal, Paola Podini, Maurizio D’Antonio, Camilo Toro, Angelo Quattrini, Emmanuel Scalais, Francesca Maltecca
Brain. 2024 Mar; 147(3): 1043–1056. Published online 2023 Oct 7. doi: 10.1093/brain/awad340
PMCID:
PMC10907083
AbstractArticlePDF–1.1M
4.
A novel AFG3L2 mutation close to AAA domain leads to aberrant OMA1 and OPA1 processing in a family with optic atrophy
Valentina Baderna, Joshua Schultz, Lisa S. Kearns, Michael Fahey, Bryony A. Thompson, Jonathan B. Ruddle, Aamira Huq, Francesca Maltecca
Acta Neuropathol Commun. 2020; 8: 93. Published online 2020 Jun 29. doi: 10.1186/s40478-020-00975-w
PMCID:
PMC7325028
AbstractArticlePDF–4.5M
5.
Novel compound heterozygous mutations in the AFG3L2 gene in a Chinese child with microcephaly, early-onset seizures, and cerebral atrophy
Tingting Jin, Ying Kuang, Shulin Luo, Rongpin Wang, Kun Chen, Minmin Jiang, Lingyan Ren, Zhaolin Sun, Lifen Duan, Shengwen Huang
Heliyon. 2023 Apr; 9(4): e14766. Published online 2023 Mar 24. doi: 10.1016/j.heliyon.2023.e14766
PMCID:
PMC10070717
AbstractArticlePDF–4.4M
6.
KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature
Anna Ardissone, Davide Tonduti, Andrea Legati, Eleonora Lamantea, Rita Barone, Imen Dorboz, Odile Boespflug-Tanguy, Gabriella Nebbia, Marco Maggioni, Barbara Garavaglia, Isabella Moroni, Laura Farina, Anna Pichiecchio, Simona Orcesi, Luisa Chiapparini, Daniele Ghezzi
Orphanet J Rare Dis. 2018; 13: 45. Published online 2018 Apr 4. doi: 10.1186/s13023-018-0788-4
PMCID:
PMC5883414
AbstractArticlePDF–1.8M
7.
A Peroxisomal Disorder of Severe Intellectual Disability, Epilepsy, and Cataracts Due to Fatty Acyl-CoA Reductase 1 Deficiency
Rebecca Buchert, Hasan Tawamie, Christopher Smith, Steffen Uebe, A. Micheil Innes, Bassam Al Hallak, Arif B. Ekici, Heinrich Sticht, Bernd Schwarze, Ryan E. Lamont, Jillian S. Parboosingh, Francois P. Bernier, Rami Abou Jamra
Am J Hum Genet. 2014 Nov 6; 95(5): 602–610. doi: 10.1016/j.ajhg.2014.10.003
PMCID:
PMC4225589
AbstractArticlePDF–1.3M
8.
A 7.5Mb duplication at chromosome 11q21-11q22.3 is associated with a novel spastic ataxia syndrome
Janel O Johnson, Giovanni Stevanin, Joyce van de Leemput, Dena G Hernandez, Sampath Arepalli, Sylvie Forlani, Ryan Zonozi, J. Raphael Gibbs, Alexis Brice, Alexandra Durr, Andrew B Singleton
Mov Disord. Author manuscript; available in PMC 2016 Feb 1.
Published in final edited form as: Mov Disord. 2015 Feb; 30(2): 262–266. Published online 2014 Dec 27. doi: 10.1002/mds.26059
PMCID:
PMC4318767
AbstractArticlePDF–461K
9.
Structure of mitochondrial poly(A) RNA polymerase reveals the structural basis for dimerization, ATP selectivity and the SPAX4 disease phenotype
Mikalai Lapkouski, B. Martin Hällberg
Nucleic Acids Res. 2015 Oct 15; 43(18): 9065–9075. Published online 2015 Oct 10. doi: 10.1093/nar/gkv861
PMCID:
PMC4605311
AbstractArticlePDF–5.8M
10.
Delayed Induction of Human NTE (PNPLA6) Rescues Neurodegeneration and Mobility Defects of Drosophila swiss cheese (sws) Mutants
Alyson Sujkowski, Shirley Rainier, John K. Fink, Robert J. Wessells
PLoS One. 2015; 10(12): e0145356. Published online 2015 Dec 15. doi: 10.1371/journal.pone.0145356
PMCID:
PMC4684404
AbstractArticlePDF–3.1M
11.
Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy
Mirna Assoum, Christophe Philippe, Bertrand Isidor, Laurence Perrin, Periklis Makrythanasis, Neal Sondheimer, Caroline Paris, Jessica Douglas, Gaetan Lesca, Stylianos Antonarakis, Hanan Hamamy, Thibaud Jouan, Yannis Duffourd, Stéphane Auvin, Aline Saunier, Amber Begtrup, Catherine Nowak, Nicolas Chatron, Dorothée Ville, Kamiar Mireskandari, Paolo Milani, Philippe Jonveaux, Guylène Lemeur, Mathieu Milh, Masano Amamoto, Mitsuhiro Kato, Mitsuko Nakashima, Noriko Miyake, Naomichi Matsumoto, Amira Masri, Christel Thauvin-Robinet, Jean-Baptiste Rivière, Laurence Faivre, Julien Thevenon
Am J Hum Genet. 2016 Dec 1; 99(6): 1368–1376. Published online 2016 Nov 23. doi: 10.1016/j.ajhg.2016.10.009
PMCID:
PMC5142104
AbstractArticlePDF–442K
12.
STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations
Stefanie Nicole Hayer, Tine Deconinck, Benjamin Bender, Katrien Smets, Stephan Züchner, Selina Reich, Ludger Schöls, Rebecca Schüle, Peter De Jonghe, Jonathan Baets, Matthis Synofzik
Orphanet J Rare Dis. 2017; 12: 31. Published online 2017 Feb 13. doi: 10.1186/s13023-017-0580-x
PMCID:
PMC5307643
AbstractArticlePDF–1.4M
13.
Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations
Alessia Nasca, Teresa Rizza, Mara Doimo, Andrea Legati, Andrea Ciolfi, Daria Diodato, Cristina Calderan, Gianfranco Carrara, Eleonora Lamantea, Chiara Aiello, Michela Di Nottia, Marcello Niceta, Costanza Lamperti, Anna Ardissone, Stefania Bianchi-Marzoli, Giancarlo Iarossi, Enrico Bertini, Isabella Moroni, Marco Tartaglia, Leonardo Salviati, Rosalba Carrozzo, Daniele Ghezzi
Orphanet J Rare Dis. 2017; 12: 89. Published online 2017 May 12. doi: 10.1186/s13023-017-0641-1
PMCID:
PMC5427524
AbstractArticlePDF–1.9M
14.
Amino acid synthesis deficiencies
T. J. de Koning
J Inherit Metab Dis. 2017; 40(4): 609–620. Published online 2017 Jun 26. doi: 10.1007/s10545-017-0063-1
PMCID:
PMC5500668
AbstractArticlePDF–475K
15.
PNPLA6 mutations cause Boucher-Neuhäuser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum
Matthis Synofzik, Michael A. Gonzalez, Charles Marques Lourenco, Marie Coutelier, Tobias B. Haack, Adriana Rebelo, Didier Hannequin, Tim M. Strom, Holger Prokisch, Christoph Kernstock, Alexandra Durr, Ludger Schöls, Marcos M. Lima-Martínez, Amjad Farooq, Rebecca Schüle, Giovanni Stevanin, Wilson Marques, Jr., Stephan Züchner
Brain. 2014 Jan; 137(1): 69–77. Published online 2013 Dec 18. doi: 10.1093/brain/awt326
PMCID:
PMC3891450
AbstractArticlePDF–522K
16.
Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes
Marie Coutelier, Monia B. Hammer, Giovanni Stevanin, Marie-Lorraine Monin, Claire-Sophie Davoine, Fanny Mochel, Pierre Labauge, Claire Ewenczyk, Jinhui Ding, J. Raphael Gibbs, Didier Hannequin, Judith Melki, Annick Toutain, Vincent Laugel, Sylvie Forlani, Perrine Charles, Emmanuel Broussolle, Stéphane Thobois, Alexandra Afenjar, Mathieu Anheim, Patrick Calvas, Giovanni Castelnovo, Thomas de Broucker, Marie Vidailhet, Antoine Moulignier, Robert T. Ghnassia, Chantal Tallaksen, Cyril Mignot, Cyril Goizet, Isabelle Le Ber, Elisabeth Ollagnon-Roman, Jean Pouget, Alexis Brice, Andrew Singleton, Alexandra Durr
JAMA Neurol. 2018 May; 75(5): 591–599. Published online 2018 Feb 26. doi: 10.1001/jamaneurol.2017.5121
PMCID:
PMC5885259
AbstractArticle
17.
Different Cerebellar Ataxia Phenotypes Associated with Mutations of the PNPLA6 Gene in Brazilian Patients with Recessive Ataxias
Hélio Afonso Ghizoni Teive, Carlos Henrique F. Camargo, Mario Teruo Sato, Naoye Shiokawa, Cesar L. Boguszewski, Salmo Raskin, Cassandra Buck, Stephanie B. Seminara, Renato Puppi Munhoz
Cerebellum. Author manuscript; available in PMC 2018 Jun 1.
Published in final edited form as: Cerebellum. 2018 Jun; 17(3): 380–385. doi: 10.1007/s12311-017-0909-y
PMCID:
PMC5970027
AbstractArticlePDF–373K
18.
Biallelic Variants in CNPY3, Encoding an Endoplasmic Reticulum Chaperone, Cause Early-Onset Epileptic Encephalopathy
Hiroki Mutoh, Mitsuhiro Kato, Tenpei Akita, Takuma Shibata, Hiroyuki Wakamoto, Hiroko Ikeda, Hiroki Kitaura, Kazushi Aoto, Mitsuko Nakashima, Tianying Wang, Chihiro Ohba, Satoko Miyatake, Noriko Miyake, Akiyoshi Kakita, Kensuke Miyake, Atsuo Fukuda, Naomichi Matsumoto, Hirotomo Saitsu
Am J Hum Genet. 2018 Feb 1; 102(2): 321–329. Published online 2018 Jan 27. doi: 10.1016/j.ajhg.2018.01.004
PMCID:
PMC5985471
AbstractArticlePDF–1.8M
19.
Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects
Eunju Seong, Ryan Insolera, Marija Dulovic, Erik-Jan Kamsteeg, Joanne Trinh, Norbert Brüggemann, Erin Sandford, Sheng Li, Ayse Bilge Ozel, Jun Z. Li, Tamison Jewett, Anneke J.A. Kievit, Alexander Münchau, Vikram Shakkottai, Christine Klein, Catherine Collins, Katja Lohmann, Bart P. van de Warrenburg, Margit Burmeister
Ann Neurol. Author manuscript; available in PMC 2019 Jun 30.
Published in final edited form as: Ann Neurol. 2018 Jun; 83(6): 1075–1088. Published online 2018 Jun 30. doi: 10.1002/ana.25220
PMCID:
PMC6105379
AbstractArticlePDF–1.5M
20.
Atypical Aicardi-Goutieres syndrome: Is the WRN locus a modifier?
Davor Lesse, Bidisha Saha, Fuki Hisama, Bahar Kaymakamzade, Gulay Nurlu, Yasemin Gursoy-Özdemir, Holger Thiele, Peter Nürnberg, George M. Martin, Christian Kubisch, Junko Oshima
Am J Med Genet A. Author manuscript; available in PMC 2015 Oct 1.
Published in final edited form as: Am J Med Genet A. 2014 Oct; 164(10): 2510–2513. Published online 2014 Jul 2. doi: 10.1002/ajmg.a.36664
PMCID:
PMC4167236
AbstractArticlePDF–754K

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