|
1
|
Coutinho P, Barbot C and Coutinho P:
Ataxia with oculomotor apraxia type 1. In: Adam MP, Everman DB,
Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A,
editors. GeneReviews® [Internet]. Seattle (WA): University of
Washington, Seattle;. 1993(2022)2002.
|
|
2
|
Sandford E and Burmeister M: Genes and
genetic testing in hereditary ataxias. Genes (Basel). 5:586–603.
2014.PubMed/NCBI View Article : Google Scholar
|
|
3
|
Inlora J, Sailani MR, Khodadadi H,
Teymurinezhad A, Takahashi S, Bernstein JA, Garshasbi M and Snyder
MP: Identification of a novel mutation in the APTX gene associated
with ataxia-oculomotor apraxia. Cold Spring Harb Mol Case Stud.
3(a002014)2017.PubMed/NCBI View Article : Google Scholar
|
|
4
|
Moreira MC, Barbot C, Tachi N, Kozuka N,
Uchida E, Gibson T, Mendonça P, Costa M, Barros J, Yanagisawa T, et
al: The gene mutated in ataxia-ocular apraxia 1 encodes the new
HIT/Zn-finger protein aprataxin. Nat Genet. 29:189–193.
2001.PubMed/NCBI View Article : Google Scholar
|
|
5
|
Sun Y, Zheng L, Yang Y, Qian X, Fu T, Li
X, Yang Z, Yan H, Cui C and Tan W: Metal-Organic framework
nanocarriers for drug delivery in biomedical applications.
Nanomicro Lett. 12(103)2020.PubMed/NCBI View Article : Google Scholar
|
|
6
|
Ahel I, Rass U, El-Khamisy SF, Katyal S,
Clements PM, McKinnon PJ, Caldecott KW and West SC: The
neurodegenerative disease protein aprataxin resolves abortive DNA
ligation intermediates. Nature. 443:713–716. 2006.PubMed/NCBI View Article : Google Scholar
|
|
7
|
Chen R, Im H and Snyder M: Whole-Exome
enrichment with the agilent sureselect human all exon platform.
Cold Spring Harb Protoc. 2015:626–633. 2015.PubMed/NCBI View Article : Google Scholar
|
|
8
|
Richards S, Aziz N, Bale S, Bick D, Das S,
Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, et al:
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. Genet Med. 17:405–424. 2015.PubMed/NCBI View Article : Google Scholar
|
|
9
|
Koboldt DC: Best practices for variant
calling in clinical sequencing. Genome Med. 12(91)2020.PubMed/NCBI View Article : Google Scholar
|
|
10
|
Date H, Onodera O, Tanaka H, Iwabuchi K,
Uekawa K, Igarashi S, Koike R, Hiroi T, Yuasa T, Awaya Y, et al:
Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is
caused by mutations in a new HIT superfamily gene. Nat Genet.
29:184–188. 2001.PubMed/NCBI View Article : Google Scholar
|
|
11
|
Sekijima Y, Hashimoto T, Onodera O, Date
H, Okano T, Naito K, Tsuji S and Ikeda S: Severe generalized
dystonia as a presentation of a patient with aprataxin gene
mutation. Mov Disord. 18:1198–1200. 2003.PubMed/NCBI View Article : Google Scholar
|
|
12
|
Zheng J, Croteau DL, Bohr VA and Akbari M:
Diminished OPA1 expression and impaired mitochondrial morphology
and homeostasis in Aprataxin-deficient cells. Nucleic Acids Res.
47:4086–4110. 2019.PubMed/NCBI View Article : Google Scholar
|
|
13
|
Le Ber I, Moreira MC, Rivaud-Péchoux S,
Chamayou C, Ochsner F, Kuntzer T, Tardieu M, Saïd G, Habert MO,
Demarquay G, et al: Cerebellar ataxia with oculomotor apraxia type
1: Clinical and genetic studies. Brain. 126 (Pt 12):2761–2772.
2003.PubMed/NCBI View Article : Google Scholar
|
|
14
|
Castellotti B, Mariotti C, Rimoldi M,
Fancellu R, Plumari M, Caimi S, Uziel G, Nardocci N, Moroni I,
Zorzi G, et al: Ataxia with oculomotor apraxia type1 (AOA1): Novel
and recurrent aprataxin mutations, coenzyme Q10 analyses, and
clinical findings in Italian patients. Neurogenetics. 12:193–201.
2011.PubMed/NCBI View Article : Google Scholar
|
|
15
|
Shimazaki H, Takiyama Y, Sakoe K, Ikeguchi
K, Niijima K, Kaneko J, Namekawa M, Ogawa T, Date H, Tsuji S, et
al: Early-onset ataxia with ocular motor apraxia and
hypoalbuminemia: The aprataxin gene mutations. Neurology.
59:590–595. 2002.PubMed/NCBI View Article : Google Scholar
|
|
16
|
Tranchant C, Fleury M, Moreira MC, Koenig
M and Warter JM: Phenotypic variability of aprataxin gene
mutations. Neurology. 60:868–870. 2003.PubMed/NCBI View Article : Google Scholar
|
|
17
|
Habeck M, Zühlke C, Bentele KH, Unkelbach
S, Kress W, Bürk K, Schwinger E and Hellenbroich Y: Aprataxin
mutations are a rare cause of early onset ataxia in Germany. J
Neurol. 251:591–594. 2004.PubMed/NCBI View Article : Google Scholar
|
|
18
|
Amouri R, Moreira MC, Zouari M, El Euch G,
Barhoumi C, Kefi M, Belal S, Koenig M and Hentati F: Aprataxin gene
mutations in Tunisian families. Neurology. 63:928–929.
2004.PubMed/NCBI View Article : Google Scholar
|
|
19
|
Yan J, Qiao L, Peng H, Liu A, Wu J and
Huang J: A novel missense pathogenic variant in NEFH causing rare
Charcot-Marie-Tooth neuropathy type 2CC. Neurol Sci. 42:757–763.
2021.PubMed/NCBI View Article : Google Scholar
|
|
20
|
Pedroso JL, Vale TC, da Costa SCG, Santos
M, Alonso I and Barsottini OGP: Complex movement disorders in
ataxia with oculomotor apraxia type 1: Beyond the cerebellar
syndrome. Tremor Other Hyperkinet Mov (N Y). 10(39)2020.PubMed/NCBI View
Article : Google Scholar
|
|
21
|
Ababneh NA, Ali D, Al-Kurdi B, Sallam M,
Alzibdeh AM, Salah B, Ryalat AT, Azab B, Sharrack B and Awidi A:
Identification of APTX disease-causing mutation in two unrelated
Jordanian families with cerebellar ataxia and sensitivity to DNA
damaging agents. PLoS One. 15(e0236808)2020.PubMed/NCBI View Article : Google Scholar
|
|
22
|
Hengel H, Buchert R, Sturm M, Haack TB,
Schelling Y, Mahajnah M, Sharkia R, Azem A, Balousha G, Ghanem Z,
et al: First-line exome sequencing in Palestinian and Israeli Arabs
with neurological disorders is efficient and facilitates disease
gene discovery. Eur J Hum Genet. 28:1034–1043. 2020.PubMed/NCBI View Article : Google Scholar
|
|
23
|
Renaud M, Moreira MC, Ben Monga B,
Rodriguez D, Debs R, Charles P, Chaouch M, Ferrat F, Laurencin C,
Vercueil L, et al: Clinical, biomarker, and molecular delineations
and genotype-phenotype correlations of ataxia with oculomotor
apraxia type 1. JAMA Neurol. 75:495–502. 2018.PubMed/NCBI View Article : Google Scholar
|
|
24
|
Hirano M, Matsumura R, Nakamura Y, Saigoh
K, Sakamoto H, Ueno S, Inoue H and Kusunoki S: Unexpectedly mild
phenotype in an ataxic family with a two-base deletion in the APTX
gene. J Neurol Sci. 378:75–79. 2017.PubMed/NCBI View Article : Google Scholar
|
|
25
|
Karimzadeh P, Khayatzadeh Kakhki S, Esmail
Nejad SS, Houshmand M and Ghofrani M: Ataxia oculomotor apraxia
type 1 in the siblings of a family: A novel mutation. Iran J Child
Neurol. 11:78–81. 2017.PubMed/NCBI
|
|
26
|
van Minkelen R, Guitart M, Escofet C, Yoon
G, Elfferich P, Bolman GM, van der Helm R, van de Graaf R and van
den Ouweland AM: Complete APTX deletion in a patient with ataxia
with oculomotor apraxia type 1. BMC Med Genet.
16(61)2015.PubMed/NCBI View Article : Google Scholar
|
|
27
|
Paucar M, Alonso I, Eriksson M, Beniaminov
S, Coutinho P and Svenningsson P: Novel APTX mutation in a hispanic
subject affected by ataxia with oculomotor apraxia type 1. Mov
Disord Clin Pract. 2:90–92. 2014.PubMed/NCBI View Article : Google Scholar
|
|
28
|
Nouri N, Nouri N, Aryani O, Kamalidehghan
B, Sedghi M and Houshmand M: A novel mutation in the aprataxin
(APTX) gene in an Iranian individual suffering early-onset ataxia
with oculomotor apraxia type 1(AOA1) disease. Iran Biomed J.
16:223–225. 2012.PubMed/NCBI View Article : Google Scholar
|
|
29
|
Yoon G, Westmacott R, Macmillan L, Quercia
N, Koutsou P, Georghiou A, Christodoulou K and Banwell B: Complete
deletion of the aprataxin gene: Ataxia with oculomotor apraxia type
1 with severe phenotype and cognitive deficit. BMJ Case Rep.
2009(bcr08.2008.0688)2009.PubMed/NCBI View Article : Google Scholar
|
|
30
|
Ferrarini M, Squintani G, Cavallaro T,
Ferrari S, Rizzuto N and Fabrizi GM: A novel mutation of aprataxin
associated with ataxia ocular apraxia type 1: Phenotypical and
genotypical characterization. J Neurol Sci. 260:219–224.
2007.PubMed/NCBI View Article : Google Scholar
|
|
31
|
Hirano M, Asai H, Kiriyama T, Furiya Y,
Iwamoto T, Nishiwaki T, Yamamoto A, Mori T and Ueno S: Short
half-lives of ataxia-associated aprataxin proteins in neuronal
cells. Neurosci Lett. 419:184–187. 2007.PubMed/NCBI View Article : Google Scholar
|
|
32
|
Ceyhan-Birsoy O, Murry JB, Machini K, Lebo
MS, Yu TW, Fayer S, Genetti CA, Schwartz TS, Agrawal PB, Parad RB,
et al: Interpretation of genomic sequencing results in healthy and
Ill Newborns: Results from the babyseq project. Am J Hum Genet.
104:76–93. 2019.PubMed/NCBI View Article : Google Scholar
|
|
33
|
Manzoor H, Bukhari I, Wajid M, Zhang Y,
Zhang H, Brüggemann N, Klein C, Shi Q and Naz S: A Novel APTX
variant and ataxia with oculomotor apraxia type 1. J Clin Neurol.
13:303–305. 2017.PubMed/NCBI View Article : Google Scholar
|
|
34
|
Yokoseki A, Ishihara T, Koyama A, Shiga A,
Yamada M, Suzuki C, Sekijima Y, Maruta K, Tsuchiya M, Date H, et
al: Genotype-phenotype correlations in early onset ataxia with
ocular motor apraxia and hypoalbuminaemia. Brain. 134 (Pt
5):1387–1399. 2011.PubMed/NCBI View Article : Google Scholar
|
|
35
|
Backenroth D, Homsy J, Murillo LR,
Glessner J, Lin E, Brueckner M, Lifton R, Goldmuntz E, Chung WK and
Shen Y: CANOES: Detecting rare copy number variants from whole
exome sequencing data. Nucleic Acids Res. 42(e97)2014.PubMed/NCBI View Article : Google Scholar
|
|
36
|
Gordeeva V, Sharova E, Babalyan K,
Sultanov R, Govorun VM and Arapidi G: Benchmarking germline CNV
calling tools from exome sequencing data. Sci Rep.
11(14416)2021.PubMed/NCBI View Article : Google Scholar
|
