Etiology
Filali-Mouncef Y,
Hunter C,
Roccio F,
Zagkou S,
Dupont N,
Primard C,
Proikas-Cezanne T,
Reggiori F
Autophagy
2022 Jan;18(1):50-72.
Epub 2021 Apr 2
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PMID: 33794741Free PMC Article
Nugent AA,
Lin K,
van Lengerich B,
Lianoglou S,
Przybyla L,
Davis SS,
Llapashtica C,
Wang J,
Kim DJ,
Xia D,
Lucas A,
Baskaran S,
Haddick PCG,
Lenser M,
Earr TK,
Shi J,
Dugas JC,
Andreone BJ,
Logan T,
Solanoy HO,
Chen H,
Srivastava A,
Poda SB,
Sanchez PE,
Watts RJ,
Sandmann T,
Astarita G,
Lewcock JW,
Monroe KM,
Di Paolo G
Neuron
2020 Mar 4;105(5):837-854.e9.
Epub 2020 Jan 2
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PMID: 31902528
Paquay S,
Bourillon A,
Pichard S,
Benoist JF,
de Lonlay P,
Dobbelaere D,
Fouilhoux A,
Guffon N,
Rouvet I,
Labarthe F,
Mention K,
Touati G,
Valayannopoulos V,
Ogier de Baulny H,
Elmaleh-Bergès M,
Acquaviva-Bourdain C,
Vianey-Saban C,
Schiff M
J Inherit Metab Dis
2017 May;40(3):415-422.
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Davies MN,
Kjalarsdottir L,
Thompson JW,
Dubois LG,
Stevens RD,
Ilkayeva OR,
Brosnan MJ,
Rolph TP,
Grimsrud PA,
Muoio DM
Cell Rep
2016 Jan 12;14(2):243-54.
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Krisans SK
Am J Respir Cell Mol Biol
1992 Oct;7(4):358-64.
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PMID: 1356376
Diagnosis
Filali-Mouncef Y,
Hunter C,
Roccio F,
Zagkou S,
Dupont N,
Primard C,
Proikas-Cezanne T,
Reggiori F
Autophagy
2022 Jan;18(1):50-72.
Epub 2021 Apr 2
doi: 10.1080/15548627.2021.1895658.
PMID: 33794741Free PMC Article
Grünert SC,
Schmitt RN,
Schlatter SM,
Gemperle-Britschgi C,
Balcı MC,
Berg V,
Çoker M,
Das AM,
Demirkol M,
Derks TGJ,
Gökçay G,
Uçar SK,
Konstantopoulou V,
Christoph Korenke G,
Lotz-Havla AS,
Schlune A,
Staufner C,
Tran C,
Visser G,
Schwab KO,
Fukao T,
Sass JO
Mol Genet Metab
2017 Sep;122(1-2):67-75.
Epub 2017 Jun 27
doi: 10.1016/j.ymgme.2017.06.012.
PMID: 28689740
Grünert SC,
Schlatter SM,
Schmitt RN,
Gemperle-Britschgi C,
Mrázová L,
Balcı MC,
Bischof F,
Çoker M,
Das AM,
Demirkol M,
de Vries M,
Gökçay G,
Häberle J,
Uçar SK,
Lotz-Havla AS,
Lücke T,
Roland D,
Rutsch F,
Santer R,
Schlune A,
Staufner C,
Schwab KO,
Mitchell GA,
Sass JO
Mol Genet Metab
2017 Jul;121(3):206-215.
Epub 2017 May 22
doi: 10.1016/j.ymgme.2017.05.014.
PMID: 28583327
Muñoz-Bonet JI,
Ortega-Sánchez MD,
León Guijarro JL
Ital J Pediatr
2017 Jan 19;43(1):12.
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PMID: 28257639Free PMC Article
Paquay S,
Bourillon A,
Pichard S,
Benoist JF,
de Lonlay P,
Dobbelaere D,
Fouilhoux A,
Guffon N,
Rouvet I,
Labarthe F,
Mention K,
Touati G,
Valayannopoulos V,
Ogier de Baulny H,
Elmaleh-Bergès M,
Acquaviva-Bourdain C,
Vianey-Saban C,
Schiff M
J Inherit Metab Dis
2017 May;40(3):415-422.
Epub 2017 Mar 2
doi: 10.1007/s10545-017-0021-y.
PMID: 28255778
Therapy
Amengual J,
Ogando Y,
Nikain C,
Quezada A,
Qian K,
Vaisar T,
Fisher EA
Mol Pharmacol
2021 Mar;99(3):175-183.
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Delgado CA,
Balbueno Guerreiro GB,
Diaz Jacques CE,
de Moura Coelho D,
Sitta A,
Manfredini V,
Wajner M,
Vargas CR
Arch Biochem Biophys
2019 Jun 15;668:16-22.
Epub 2019 Apr 30
doi: 10.1016/j.abb.2019.04.008.
PMID: 31047871
Muñoz-Bonet JI,
Ortega-Sánchez MD,
León Guijarro JL
Ital J Pediatr
2017 Jan 19;43(1):12.
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PMID: 28257639Free PMC Article
Yoo S,
Kim JB
Biol Pharm Bull
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PMID: 26027833
Wierzbicki AS,
Hardman TC,
Viljoen A
Int J Clin Pract
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Prognosis
Grünert SC,
Sass JO
Orphanet J Rare Dis
2020 Apr 28;15(1):106.
doi: 10.1186/s13023-020-01357-0.
PMID: 32345314Free PMC Article
Grünert SC,
Schmitt RN,
Schlatter SM,
Gemperle-Britschgi C,
Balcı MC,
Berg V,
Çoker M,
Das AM,
Demirkol M,
Derks TGJ,
Gökçay G,
Uçar SK,
Konstantopoulou V,
Christoph Korenke G,
Lotz-Havla AS,
Schlune A,
Staufner C,
Tran C,
Visser G,
Schwab KO,
Fukao T,
Sass JO
Mol Genet Metab
2017 Sep;122(1-2):67-75.
Epub 2017 Jun 27
doi: 10.1016/j.ymgme.2017.06.012.
PMID: 28689740
Grünert SC,
Schlatter SM,
Schmitt RN,
Gemperle-Britschgi C,
Mrázová L,
Balcı MC,
Bischof F,
Çoker M,
Das AM,
Demirkol M,
de Vries M,
Gökçay G,
Häberle J,
Uçar SK,
Lotz-Havla AS,
Lücke T,
Roland D,
Rutsch F,
Santer R,
Schlune A,
Staufner C,
Schwab KO,
Mitchell GA,
Sass JO
Mol Genet Metab
2017 Jul;121(3):206-215.
Epub 2017 May 22
doi: 10.1016/j.ymgme.2017.05.014.
PMID: 28583327
Muñoz-Bonet JI,
Ortega-Sánchez MD,
León Guijarro JL
Ital J Pediatr
2017 Jan 19;43(1):12.
doi: 10.1186/s13052-017-0333-4.
PMID: 28257639Free PMC Article
Richtrova E,
Mrazova LS,
Musalkova D,
Luksan O,
Stolnaya L,
Minks J,
Lukas J,
Dvorakova L,
Jirsa M,
Hrebicek M
Gene
2016 Oct 30;592(1):36-42.
Epub 2016 Jul 22
doi: 10.1016/j.gene.2016.07.051.
PMID: 27452122
Clinical prediction guides
Filali-Mouncef Y,
Hunter C,
Roccio F,
Zagkou S,
Dupont N,
Primard C,
Proikas-Cezanne T,
Reggiori F
Autophagy
2022 Jan;18(1):50-72.
Epub 2021 Apr 2
doi: 10.1080/15548627.2021.1895658.
PMID: 33794741Free PMC Article
Nugent AA,
Lin K,
van Lengerich B,
Lianoglou S,
Przybyla L,
Davis SS,
Llapashtica C,
Wang J,
Kim DJ,
Xia D,
Lucas A,
Baskaran S,
Haddick PCG,
Lenser M,
Earr TK,
Shi J,
Dugas JC,
Andreone BJ,
Logan T,
Solanoy HO,
Chen H,
Srivastava A,
Poda SB,
Sanchez PE,
Watts RJ,
Sandmann T,
Astarita G,
Lewcock JW,
Monroe KM,
Di Paolo G
Neuron
2020 Mar 4;105(5):837-854.e9.
Epub 2020 Jan 2
doi: 10.1016/j.neuron.2019.12.007.
PMID: 31902528
Genoula M,
Marín Franco JL,
Dupont M,
Kviatcovsky D,
Milillo A,
Schierloh P,
Moraña EJ,
Poggi S,
Palmero D,
Mata-Espinosa D,
González-Domínguez E,
León Contreras JC,
Barrionuevo P,
Rearte B,
Córdoba Moreno MO,
Fontanals A,
Crotta Asis A,
Gago G,
Cougoule C,
Neyrolles O,
Maridonneau-Parini I,
Sánchez-Torres C,
Hernández-Pando R,
Vérollet C,
Lugo-Villarino G,
Sasiain MDC,
Balboa L
Front Immunol
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Epub 2018 Mar 9
doi: 10.3389/fimmu.2018.00459.
PMID: 29593722Free PMC Article
Muñoz-Bonet JI,
Ortega-Sánchez MD,
León Guijarro JL
Ital J Pediatr
2017 Jan 19;43(1):12.
doi: 10.1186/s13052-017-0333-4.
PMID: 28257639Free PMC Article
Richtrova E,
Mrazova LS,
Musalkova D,
Luksan O,
Stolnaya L,
Minks J,
Lukas J,
Dvorakova L,
Jirsa M,
Hrebicek M
Gene
2016 Oct 30;592(1):36-42.
Epub 2016 Jul 22
doi: 10.1016/j.gene.2016.07.051.
PMID: 27452122