Etiology
Freihuber C,
Dahmani-Rabehi B,
Brassier A,
Broué P,
Cances C,
Chabrol B,
Eyer D,
Labarthe F,
Latour P,
Levade T,
Pichard S,
Sevin C,
Vanier MT,
Héron B
Orphanet J Rare Dis
2023 Jul 21;18(1):204.
doi: 10.1186/s13023-023-02804-4.
PMID: 37480097Free PMC Article
Bolton SC,
Soran V,
Marfa MP,
Imrie J,
Gissen P,
Jahnova H,
Sharma R,
Jones S,
Santra S,
Crushell E,
Stampfer M,
Coll MJ,
Dawson C,
Mathieson T,
Green J,
Dardis A,
Bembi B,
Patterson MC,
Vanier MT,
Geberhiwot T
Orphanet J Rare Dis
2022 Feb 14;17(1):51.
doi: 10.1186/s13023-022-02200-4.
PMID: 35164809Free PMC Article
Nadjar Y,
Hütter-Moncada AL,
Latour P,
Ayrignac X,
Kaphan E,
Tranchant C,
Cintas P,
Degardin A,
Goizet C,
Laurencin C,
Martzolff L,
Tilikete C,
Anheim M,
Audoin B,
Deramecourt V,
De Gaillarbois TD,
Roze E,
Lamari F,
Vanier MT,
Héron B
Orphanet J Rare Dis
2018 Oct 1;13(1):175.
doi: 10.1186/s13023-018-0913-4.
PMID: 30285904Free PMC Article
Kresojević N,
Dobričić V,
Svetel M,
Kostić V
Med Hypotheses
2014 Nov;83(5):559-62.
Epub 2014 Sep 6
doi: 10.1016/j.mehy.2014.08.025.
PMID: 25220527
Macías-Vidal J,
Rodríguez-Pascau L,
Sánchez-Ollé G,
Lluch M,
Vilageliu L,
Grinberg D,
Coll MJ;
Spanish NPC Working Group
Clin Genet
2011 Jul;80(1):39-49.
Epub 2010 Jul 6
doi: 10.1111/j.1399-0004.2010.01504.x.
PMID: 20718790
Diagnosis
Freihuber C,
Dahmani-Rabehi B,
Brassier A,
Broué P,
Cances C,
Chabrol B,
Eyer D,
Labarthe F,
Latour P,
Levade T,
Pichard S,
Sevin C,
Vanier MT,
Héron B
Orphanet J Rare Dis
2023 Jul 21;18(1):204.
doi: 10.1186/s13023-023-02804-4.
PMID: 37480097Free PMC Article
Bolton SC,
Soran V,
Marfa MP,
Imrie J,
Gissen P,
Jahnova H,
Sharma R,
Jones S,
Santra S,
Crushell E,
Stampfer M,
Coll MJ,
Dawson C,
Mathieson T,
Green J,
Dardis A,
Bembi B,
Patterson MC,
Vanier MT,
Geberhiwot T
Orphanet J Rare Dis
2022 Feb 14;17(1):51.
doi: 10.1186/s13023-022-02200-4.
PMID: 35164809Free PMC Article
Di Lazzaro V,
Marano M,
Florio L,
De Santis S
Int J Neurosci
2016 Nov;126(11):963-71.
Epub 2016 Mar 29
doi: 10.3109/00207454.2016.1161623.
PMID: 26998855
Nevsimalova S,
Malinova V
Curr Neurol Neurosci Rep
2015 Jan;15(1):522.
doi: 10.1007/s11910-014-0522-0.
PMID: 25434476
Vanier MT
Orphanet J Rare Dis
2010 Jun 3;5:16.
doi: 10.1186/1750-1172-5-16.
PMID: 20525256Free PMC Article
Therapy
Freihuber C,
Dahmani-Rabehi B,
Brassier A,
Broué P,
Cances C,
Chabrol B,
Eyer D,
Labarthe F,
Latour P,
Levade T,
Pichard S,
Sevin C,
Vanier MT,
Héron B
Orphanet J Rare Dis
2023 Jul 21;18(1):204.
doi: 10.1186/s13023-023-02804-4.
PMID: 37480097Free PMC Article
Bolton SC,
Soran V,
Marfa MP,
Imrie J,
Gissen P,
Jahnova H,
Sharma R,
Jones S,
Santra S,
Crushell E,
Stampfer M,
Coll MJ,
Dawson C,
Mathieson T,
Green J,
Dardis A,
Bembi B,
Patterson MC,
Vanier MT,
Geberhiwot T
Orphanet J Rare Dis
2022 Feb 14;17(1):51.
doi: 10.1186/s13023-022-02200-4.
PMID: 35164809Free PMC Article
Nadjar Y,
Hütter-Moncada AL,
Latour P,
Ayrignac X,
Kaphan E,
Tranchant C,
Cintas P,
Degardin A,
Goizet C,
Laurencin C,
Martzolff L,
Tilikete C,
Anheim M,
Audoin B,
Deramecourt V,
De Gaillarbois TD,
Roze E,
Lamari F,
Vanier MT,
Héron B
Orphanet J Rare Dis
2018 Oct 1;13(1):175.
doi: 10.1186/s13023-018-0913-4.
PMID: 30285904Free PMC Article
Tozza S,
Dubbioso R,
Iodice R,
Topa A,
Esposito M,
Ruggiero L,
Spina E,
De Rosa A,
Saccà F,
Santoro L,
Manganelli F
Neurol Sci
2018 Jun;39(6):1015-1019.
Epub 2018 Mar 13
doi: 10.1007/s10072-018-3314-5.
PMID: 29536386
Vanier MT
Orphanet J Rare Dis
2010 Jun 3;5:16.
doi: 10.1186/1750-1172-5-16.
PMID: 20525256Free PMC Article
Prognosis
Wei J,
Takamatsu Y,
Wada R,
Fujita M,
Ho G,
Masliah E,
Hashimoto M
Biomolecules
2021 Feb 15;11(2)
doi: 10.3390/biom11020289.
PMID: 33672048Free PMC Article
Di Lazzaro V,
Marano M,
Florio L,
De Santis S
Int J Neurosci
2016 Nov;126(11):963-71.
Epub 2016 Mar 29
doi: 10.3109/00207454.2016.1161623.
PMID: 26998855
Iodice R,
Dubbioso R,
Topa A,
Ruggiero L,
Pisciotta C,
Esposito M,
Tozza S,
Santoro L,
Manganelli F
J Neurol Sci
2015 Jan 15;348(1-2):262-5.
Epub 2014 Dec 16
doi: 10.1016/j.jns.2014.12.005.
PMID: 25537619
Vanier MT
Orphanet J Rare Dis
2010 Jun 3;5:16.
doi: 10.1186/1750-1172-5-16.
PMID: 20525256Free PMC Article
Sévin M,
Lesca G,
Baumann N,
Millat G,
Lyon-Caen O,
Vanier MT,
Sedel F
Brain
2007 Jan;130(Pt 1):120-33.
Epub 2006 Sep 26
doi: 10.1093/brain/awl260.
PMID: 17003072
Clinical prediction guides
Freihuber C,
Dahmani-Rabehi B,
Brassier A,
Broué P,
Cances C,
Chabrol B,
Eyer D,
Labarthe F,
Latour P,
Levade T,
Pichard S,
Sevin C,
Vanier MT,
Héron B
Orphanet J Rare Dis
2023 Jul 21;18(1):204.
doi: 10.1186/s13023-023-02804-4.
PMID: 37480097Free PMC Article
Bolton SC,
Soran V,
Marfa MP,
Imrie J,
Gissen P,
Jahnova H,
Sharma R,
Jones S,
Santra S,
Crushell E,
Stampfer M,
Coll MJ,
Dawson C,
Mathieson T,
Green J,
Dardis A,
Bembi B,
Patterson MC,
Vanier MT,
Geberhiwot T
Orphanet J Rare Dis
2022 Feb 14;17(1):51.
doi: 10.1186/s13023-022-02200-4.
PMID: 35164809Free PMC Article
Nadjar Y,
Hütter-Moncada AL,
Latour P,
Ayrignac X,
Kaphan E,
Tranchant C,
Cintas P,
Degardin A,
Goizet C,
Laurencin C,
Martzolff L,
Tilikete C,
Anheim M,
Audoin B,
Deramecourt V,
De Gaillarbois TD,
Roze E,
Lamari F,
Vanier MT,
Héron B
Orphanet J Rare Dis
2018 Oct 1;13(1):175.
doi: 10.1186/s13023-018-0913-4.
PMID: 30285904Free PMC Article
Nevsimalova S,
Malinova V
Curr Neurol Neurosci Rep
2015 Jan;15(1):522.
doi: 10.1007/s11910-014-0522-0.
PMID: 25434476
Vanier MT
Orphanet J Rare Dis
2010 Jun 3;5:16.
doi: 10.1186/1750-1172-5-16.
PMID: 20525256Free PMC Article