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Novel (ovario) leukodystrophy related to AARS2 mutations
Novel (ovario) leukodystrophy related to AARS2 mutations
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Novel (ovario) leukodystrophy related to AARS2 mutations

Dallabona, Cristina ; Diodato, Daria ; Kevelam, Sietske H ; Haack, Tobias B ; Wong, Lee-Jun ; Salomons, Gajja S ; Baruffini, Enrico ; Melchionda, Laura ; Mariotti, Caterina ; Strom, Tim M ; Meitinger, Thomas ; Prokisch, Holger ; Chapman, Kim ; Colley, Alison ; Rocha, Helena ; Őunap, Katrin ; Schiffmann, Raphael ; Salsano, Ettore ; Savoiardo, Mario ; Hamilton, Eline M ; Abbink, Truus E M ; Wolf, Nicole I ; Ferrero, Ileana ; Lamperti, Costanza ; Zeviani, Massimo ; Vanderver, Adeline ; Ghezzi, Daniele ; van der Knaap, Marjo S

Neurology, 2014-06, Vol.82 (23), p.2063-2071 [Peer Reviewed Journal]

Hagerstown, MD: American Academy of Neurology

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Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects
Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects
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Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects

Simon, Amos J ; Lev, Atar ; Zhang, Yong ; Weiss, Batia ; Rylova, Anna ; Eyal, Eran ; Kol, Nitzan ; Barel, Ortal ; Cesarkas, Keren ; Soudack, Michalle ; Greenberg-Kushnir, Noa ; Rhodes, Michele ; Wiest, David L ; Schiby, Ginette ; Barshack, Iris ; Katz, Shulamit ; Pras, Elon ; Poran, Hana ; Reznik-Wolf, Haike ; Ribakovsky, Elena ; Simon, Carlos ; Hazou, Wadi ; Sidi, Yechezkel ; Lahad, Avishay ; Katzir, Hagar ; Sagie, Shira ; Aqeilan, Haifa A ; Glousker, Galina ; Amariglio, Ninette ; Tzfati, Yehuda ; Selig, Sara ; Rechavi, Gideon ; Somech, Raz

The Journal of experimental medicine, 2016-07, Vol.213 (8), p.1429-1440 [Peer Reviewed Journal]

United States: The Rockefeller University Press

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3
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia
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Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia

Minnerop, Martina ; Kurzwelly, Delia ; Wagner, Holger ; Soehn, Anne S ; Reichbauer, Jennifer ; Tao, Feifei ; Rattay, Tim W ; Peitz, Michael ; Rehbach, Kristina ; Giorgetti, Alejandro ; Pyle, Angela ; Thiele, Holger ; Altmüller, Janine ; Timmann, Dagmar ; Karaca, Ilker ; Lennarz, Martina ; Baets, Jonathan ; Hengel, Holger ; Synofzik, Matthis ; Atasu, Burcu ; Feely, Shawna ; Kennerson, Marina ; Stendel, Claudia ; Lindig, Tobias ; Gonzalez, Michael A ; Stirnberg, Rüdiger ; Sturm, Marc ; Roeske, Sandra ; Jung, Johanna ; Bauer, Peter ; Lohmann, Ebba ; Herms, Stefan ; Heilmann-Heimbach, Stefanie ; Nicholson, Garth ; Mahanjah, Muhammad ; Sharkia, Rajech ; Carloni, Paolo ; Brüstle, Oliver ; Klopstock, Thomas ; Mathews, Katherine D ; Shy, Michael E ; de Jonghe, Peter ; Chinnery, Patrick F ; Horvath, Rita ; Kohlhase, Jürgen ; Schmitt, Ina ; Wolf, Michael ; Greschus, Susanne ; Amunts, Katrin ; Maier, Wolfgang ; Schöls, Ludger ; Nürnberg, Peter ; Zuchner, Stephan ; Klockgether, Thomas ; Ramirez, Alfredo ; Schüle, Rebecca

Brain (London, England : 1878), 2017-06, Vol.140 (6), p.1561-1578 [Peer Reviewed Journal]

England: Oxford University Press

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4
High dietary folate in pregnant mice leads to pseudo-MTHFR deficiency and altered methyl metabolism, with embryonic growth delay and short-term memory impairment in offspring
High dietary folate in pregnant mice leads to pseudo-MTHFR deficiency and altered methyl metabolism, with embryonic growth delay and short-term memory impairment in offspring
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High dietary folate in pregnant mice leads to pseudo-MTHFR deficiency and altered methyl metabolism, with embryonic growth delay and short-term memory impairment in offspring

Bahous, Renata H ; Jadavji, Nafisa M ; Deng, Liyuan ; Cosín-Tomás, Marta ; Lu, Jessica ; Malysheva, Olga ; Leung, Kit-Yi ; Ho, Ming-Kai ; Pallàs, Mercè ; Kaliman, Perla ; Greene, Nicholas D E ; Bedell, Barry J ; Caudill, Marie A ; Rozen, Rima

Human molecular genetics, 2017-03, Vol.26 (5), p.888-900 [Peer Reviewed Journal]

England: Oxford University Press

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5
TDP-43 transgenic mice develop spastic paralysis and neuronal inclusions characteristic of ALS and frontotemporal lobar degeneration
TDP-43 transgenic mice develop spastic paralysis and neuronal inclusions characteristic of ALS and frontotemporal lobar degeneration
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TDP-43 transgenic mice develop spastic paralysis and neuronal inclusions characteristic of ALS and frontotemporal lobar degeneration

Wils, Hans ; Kleinberger, Gernot ; Janssens, Jonathan ; Pereson, Sandra ; Joris, Geert ; Cuijt, Ivy ; Smits, Veerle ; Ceuterick-de Groote, Chantal ; Van Broeckhoven, Christine ; Kumar-Singh, Samir

Proceedings of the National Academy of Sciences - PNAS, 2010-02, Vol.107 (8), p.3858-3863 [Peer Reviewed Journal]

United States: National Academy of Sciences

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6
Insights into SACS pathological attributes in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)
Insights into SACS pathological attributes in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)
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Insights into SACS pathological attributes in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)

Aly, Khaled A ; Moutaoufik, Mohamed Taha ; Zilocchi, Mara ; Phanse, Sadhna ; Babu, Mohan

Current opinion in chemical biology, 2022-12, Vol.71, p.102211-102211, Article 102211 [Peer Reviewed Journal]

England

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7
Diagnostic Optic Nerve Features in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
Diagnostic Optic Nerve Features in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
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Diagnostic Optic Nerve Features in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

Hepschke, Jenny L ; Rajabally, Yusuf Ali ; Mollan, Susan P

JAMA neurology, 2023-01, Vol.80 (1), p.104-106 [Peer Reviewed Journal]

United States: American Medical Association

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8
Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy
Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy
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Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy

Sferra, Antonella ; Fattori, Fabiana ; Rizza, Teresa ; Flex, Elsabetta ; Bellacchio, Emanuele ; Bruselles, Alessandro ; Petrini, Stefania ; Cecchetti, Serena ; Teson, Massimo ; Restaldi, Fabrizia ; Ciolfi, Andrea ; Santorelli, Filippo M ; Zanni, Ginevra ; Barresi, Sabina ; Castiglioni, Claudia ; Tartaglia, Marco ; Bertini, Enrico

Human molecular genetics, 2018-06, Vol.27 (11), p.1892-1904 [Peer Reviewed Journal]

England: Oxford University Press

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9
Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability
Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability
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Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability

Van Bergen, Nicole J ; Guo, Yiran ; Al-Deri, Noraldin ; Lipatova, Zhanna ; Stanga, Daniela ; Zhao, Sarah ; Murtazina, Rakhilya ; Gyurkovska, Valeriya ; Pehlivan, Davut ; Mitani, Tadahiro ; Gezdirici, Alper ; Antony, Jayne ; Collins, Felicity ; Willis, Mary J H ; Coban Akdemir, Zeynep H ; Liu, Pengfei ; Punetha, Jaya ; Hunter, Jill V ; Jhangiani, Shalini N ; Fatih, Jawid M ; Rosenfeld, Jill A ; Posey, Jennifer E ; Gibbs, Richard A ; Karaca, Ender ; Massey, Sean ; Ranasinghe, Thisara G ; Sleiman, Patrick ; Troedson, Chris ; Lupski, James R ; Sacher, Michael ; Segev, Nava ; Hakonarson, Hakon ; Christodoulou, John

Brain (London, England : 1878), 2020-01, Vol.143 (1), p.112-130 [Peer Reviewed Journal]

England: Oxford University Press

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10
Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia in Mice and Humans
Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia in Mice and Humans
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Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia in Mice and Humans

Wang, Yubin ; Hersheson, Joshua ; Lopez, Dulce ; Hammer, Monia ; Liu, Yan ; Lee, Ka-Hung ; Pinto, Vanessa ; Seinfeld, Jeff ; Wiethoff, Sarah ; Sun, Jiandong ; Amouri, Rim ; Hentati, Faycal ; Baudry, Neema ; Tran, Jennifer ; Singleton, Andrew B. ; Coutelier, Marie ; Brice, Alexis ; Stevanin, Giovanni ; Durr, Alexandra ; Bi, Xiaoning ; Houlden, Henry ; Baudry, Michel

Cell reports (Cambridge), 2016-06, Vol.16 (1), p.79-91 [Peer Reviewed Journal]

United States: Elsevier Inc

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