Etiology
Stoian A,
Bajko Z,
Bălașa R,
Andone S,
Stoian M,
Ormenișan I,
Muntean C,
Bănescu C
Biomolecules
2024 Feb 23;14(3)
doi: 10.3390/biom14030270.
PMID: 38540691Free PMC Article
Giacomini T,
Nuovo S,
Zanni G,
Mancardi MM,
Cusmai R,
Pepi C,
Bertini E,
Valente EM,
Battini R,
Ferrari A,
Romaniello R,
Zucca C,
Borgatti R,
Uccella S,
Severino M,
Striano P,
Pistorio A,
Prato G,
De Grandis E,
Nobili L,
Pisciotta L
Eur J Paediatr Neurol
2021 Mar;31:61-69.
Epub 2021 Feb 19
doi: 10.1016/j.ejpn.2021.02.006.
PMID: 33640666
Gur-Hartman T,
Berkowitz O,
Yosovich K,
Roubertie A,
Zanni G,
Macaya A,
Heimer G,
Dueñas BP,
Sival DA,
Pode-Shakked B,
López-Laso E,
Humbertclaude V,
Riant F,
Bosco L,
Cayron LB,
Nissenkorn A,
Nicita F,
Bertini E,
Hassin S,
Ben Zeev B,
Zerem A,
Libzon S,
Lev D,
Linder I,
Lerman-Sagie T,
Blumkin L
Eur J Paediatr Neurol
2021 Jan;30:144-154.
Epub 2020 Oct 20
doi: 10.1016/j.ejpn.2020.10.004.
PMID: 33349592
Blackburn PR,
Schultz MJ,
Lahner CA,
Li D,
Bhoj E,
Fisher LJ,
Renaud DL,
Kenney A,
Ibrahim N,
Hashem M,
Zain Seidahmed M,
Hasadsri L,
Schrier Vergano SA,
Alkuraya FS,
Lanpher BC
Ann Clin Transl Neurol
2020 Jun;7(6):1013-1028.
Epub 2020 Jun 9
doi: 10.1002/acn3.51074.
PMID: 32519519Free PMC Article
Claerhout H,
Witters P,
Régal L,
Jansen K,
Van Hoestenberghe MR,
Breckpot J,
Vermeersch P
J Inherit Metab Dis
2018 Jan;41(1):101-108.
Epub 2017 Oct 4
doi: 10.1007/s10545-017-0089-4.
PMID: 28980090
Diagnosis
Alvarez C,
Grimmel M,
Ebrahimi-Fakhari D,
Paul VG,
Deininger N,
Riess A,
Haack T,
Gardella E,
Møller RS,
Bayat A
Clin Genet
2023 May;103(5):566-573.
Epub 2023 Jan 11
doi: 10.1111/cge.14275.
PMID: 36453471
Pavone P,
Pappalardo XG,
Ruggieri M,
Falsaperla R,
Parano E
Medicine (Baltimore)
2022 Aug 5;101(31):e29413.
doi: 10.1097/MD.0000000000029413.
PMID: 35945798Free PMC Article
Giacomini T,
Nuovo S,
Zanni G,
Mancardi MM,
Cusmai R,
Pepi C,
Bertini E,
Valente EM,
Battini R,
Ferrari A,
Romaniello R,
Zucca C,
Borgatti R,
Uccella S,
Severino M,
Striano P,
Pistorio A,
Prato G,
De Grandis E,
Nobili L,
Pisciotta L
Eur J Paediatr Neurol
2021 Mar;31:61-69.
Epub 2021 Feb 19
doi: 10.1016/j.ejpn.2021.02.006.
PMID: 33640666
Kunii M,
Doi H,
Hashiguchi S,
Matsuishi T,
Sakai Y,
Iai M,
Okubo M,
Nakamura H,
Takahashi K,
Katsumoto A,
Tada M,
Takeuchi H,
Ishikawa T,
Miyake N,
Saitsu H,
Matsumoto N,
Tanaka F
J Neurol Sci
2020 Sep 15;416:117047.
Epub 2020 Jul 17
doi: 10.1016/j.jns.2020.117047.
PMID: 32736238
Claerhout H,
Witters P,
Régal L,
Jansen K,
Van Hoestenberghe MR,
Breckpot J,
Vermeersch P
J Inherit Metab Dis
2018 Jan;41(1):101-108.
Epub 2017 Oct 4
doi: 10.1007/s10545-017-0089-4.
PMID: 28980090
Therapy
Muthusamy K,
Perez-Ortiz JM,
Ligezka AN,
Altassan R,
Johnsen C,
Schultz MJ,
Patterson MC,
Morava E
Genet Med
2024 Feb;26(2):101027.
Epub 2023 Nov 10
doi: 10.1016/j.gim.2023.101027.
PMID: 37955240
Zhang C,
Deng X,
Wen Y,
He F,
Yin F,
Peng J
BMC Med Genet
2020 Nov 26;21(1):235.
doi: 10.1186/s12881-020-01162-3.
PMID: 33243190Free PMC Article
García Segarra N,
Gautschi I,
Mittaz-Crettol L,
Kallay Zetchi C,
Al-Qusairi L,
Van Bemmelen MX,
Maeder P,
Bonafé L,
Schild L,
Roulet-Perez E
J Neurol Sci
2014 Jul 15;342(1-2):69-78.
Epub 2014 Apr 27
doi: 10.1016/j.jns.2014.04.027.
PMID: 24836863
Lamperti C,
Naini A,
Hirano M,
De Vivo DC,
Bertini E,
Servidei S,
Valeriani M,
Lynch D,
Banwell B,
Berg M,
Dubrovsky T,
Chiriboga C,
Angelini C,
Pegoraro E,
DiMauro S
Neurology
2003 Apr 8;60(7):1206-8.
doi: 10.1212/01.wnl.0000055089.39373.fc.
PMID: 12682339
Vossler DG,
Lee JK,
Ko TS
J Child Neurol
1999 May;14(5):282-8.
doi: 10.1177/088307389901400503.
PMID: 10342594
Prognosis
Stoian A,
Bajko Z,
Bălașa R,
Andone S,
Stoian M,
Ormenișan I,
Muntean C,
Bănescu C
Biomolecules
2024 Feb 23;14(3)
doi: 10.3390/biom14030270.
PMID: 38540691Free PMC Article
Phulpagar P,
Holla VV,
Tomar D,
Kamble N,
Yadav R,
Pal PK,
Muthusamy B
J Hum Genet
2023 Dec;68(12):859-866.
Epub 2023 Sep 26
doi: 10.1038/s10038-023-01195-5.
PMID: 37752213
Pavone P,
Pappalardo XG,
Ruggieri M,
Falsaperla R,
Parano E
Medicine (Baltimore)
2022 Aug 5;101(31):e29413.
doi: 10.1097/MD.0000000000029413.
PMID: 35945798Free PMC Article
Giacomini T,
Nuovo S,
Zanni G,
Mancardi MM,
Cusmai R,
Pepi C,
Bertini E,
Valente EM,
Battini R,
Ferrari A,
Romaniello R,
Zucca C,
Borgatti R,
Uccella S,
Severino M,
Striano P,
Pistorio A,
Prato G,
De Grandis E,
Nobili L,
Pisciotta L
Eur J Paediatr Neurol
2021 Mar;31:61-69.
Epub 2021 Feb 19
doi: 10.1016/j.ejpn.2021.02.006.
PMID: 33640666
Claerhout H,
Witters P,
Régal L,
Jansen K,
Van Hoestenberghe MR,
Breckpot J,
Vermeersch P
J Inherit Metab Dis
2018 Jan;41(1):101-108.
Epub 2017 Oct 4
doi: 10.1007/s10545-017-0089-4.
PMID: 28980090
Clinical prediction guides
Phulpagar P,
Holla VV,
Tomar D,
Kamble N,
Yadav R,
Pal PK,
Muthusamy B
J Hum Genet
2023 Dec;68(12):859-866.
Epub 2023 Sep 26
doi: 10.1038/s10038-023-01195-5.
PMID: 37752213
Werren EA,
Srinivasan VM,
Gowda VK,
Pandey A,
Vaish S,
Kabbur AR,
Nandeesh BN,
Srivastava A
Am J Med Genet A
2023 Sep;191(9):2446-2450.
Epub 2023 Jun 20
doi: 10.1002/ajmg.a.63310.
PMID: 37337918
Majethia P,
Do Rosario MC,
Kaur P,
Karanvir,
Shankar R,
Sharma S,
Siddiqui S,
Shukla A
Ann Hum Genet
2022 Mar;86(2):94-101.
Epub 2021 Dec 8
doi: 10.1111/ahg.12452.
PMID: 34878169Free PMC Article
Gur-Hartman T,
Berkowitz O,
Yosovich K,
Roubertie A,
Zanni G,
Macaya A,
Heimer G,
Dueñas BP,
Sival DA,
Pode-Shakked B,
López-Laso E,
Humbertclaude V,
Riant F,
Bosco L,
Cayron LB,
Nissenkorn A,
Nicita F,
Bertini E,
Hassin S,
Ben Zeev B,
Zerem A,
Libzon S,
Lev D,
Linder I,
Lerman-Sagie T,
Blumkin L
Eur J Paediatr Neurol
2021 Jan;30:144-154.
Epub 2020 Oct 20
doi: 10.1016/j.ejpn.2020.10.004.
PMID: 33349592
Claerhout H,
Witters P,
Régal L,
Jansen K,
Van Hoestenberghe MR,
Breckpot J,
Vermeersch P
J Inherit Metab Dis
2018 Jan;41(1):101-108.
Epub 2017 Oct 4
doi: 10.1007/s10545-017-0089-4.
PMID: 28980090