Etiology
Aida I,
Ozawa T,
Fujinaka H,
Goto K,
Ohta K,
Nakajima T
Intern Med
2021 Dec 15;60(24):3963-3967.
Epub 2021 Jun 12
doi: 10.2169/internalmedicine.7401-21.
PMID: 34121011Free PMC Article
Mutlu-Albayrak H,
Kırat E,
Gürbüz G
Neurogenetics
2020 Jan;21(1):59-66.
Epub 2019 Nov 19
doi: 10.1007/s10048-019-00597-y.
PMID: 31741144
van Os NJ,
Roeleveld N,
Weemaes CM,
Jongmans MC,
Janssens GO,
Taylor AM,
Hoogerbrugge N,
Willemsen MA
Clin Genet
2016 Aug;90(2):105-17.
Epub 2016 Jan 20
doi: 10.1111/cge.12710.
PMID: 26662178
Koksal Y,
Caliskan U,
Ucar C,
Yurtcu M,
Artac H,
Ilerisoy-Yakut Z,
Reisli I
Pediatr Hematol Oncol
2007 Sep;24(6):431-6.
doi: 10.1080/08880010701451434.
PMID: 17710660
Palau F,
Espinós C
Orphanet J Rare Dis
2006 Nov 17;1:47.
doi: 10.1186/1750-1172-1-47.
PMID: 17112370Free PMC Article
Diagnosis
Novis LE,
Silva TYT,
Pedroso JL,
Barsottini OGP
Cerebellum
2025 Feb 8;24(2):45.
doi: 10.1007/s12311-025-01798-y.
PMID: 39920364
Aida I,
Ozawa T,
Fujinaka H,
Goto K,
Ohta K,
Nakajima T
Intern Med
2021 Dec 15;60(24):3963-3967.
Epub 2021 Jun 12
doi: 10.2169/internalmedicine.7401-21.
PMID: 34121011Free PMC Article
Canet-Pons J,
Schubert R,
Duecker RP,
Schrewe R,
Wölke S,
Kieslich M,
Schnölzer M,
Chiocchetti A,
Auburger G,
Zielen S,
Warnken U
Neurogenetics
2018 Dec;19(4):237-255.
Epub 2018 Oct 21
doi: 10.1007/s10048-018-0557-5.
PMID: 30343341
Koksal Y,
Caliskan U,
Ucar C,
Yurtcu M,
Artac H,
Ilerisoy-Yakut Z,
Reisli I
Pediatr Hematol Oncol
2007 Sep;24(6):431-6.
doi: 10.1080/08880010701451434.
PMID: 17710660
Palau F,
Espinós C
Orphanet J Rare Dis
2006 Nov 17;1:47.
doi: 10.1186/1750-1172-1-47.
PMID: 17112370Free PMC Article
Therapy
Pommerening H,
van Dullemen S,
Kieslich M,
Schubert R,
Zielen S,
Voss S
Orphanet J Rare Dis
2015 Dec 9;10:155.
doi: 10.1186/s13023-015-0373-z.
PMID: 26645295Free PMC Article
Reetz K,
Dogan I,
Costa AS,
Dafotakis M,
Fedosov K,
Giunti P,
Parkinson MH,
Sweeney MG,
Mariotti C,
Panzeri M,
Nanetti L,
Arpa J,
Sanz-Gallego I,
Durr A,
Charles P,
Boesch S,
Nachbauer W,
Klopstock T,
Karin I,
Depondt C,
vom Hagen JM,
Schöls L,
Giordano IA,
Klockgether T,
Bürk K,
Pandolfo M,
Schulz JB
Lancet Neurol
2015 Feb;14(2):174-82.
Epub 2015 Jan 5
doi: 10.1016/S1474-4422(14)70321-7.
PMID: 25566998
Lockman JL,
Iskander AJ,
Bembea M,
Crawford TO,
Lederman HM,
McGrath-Morrow S,
Easley RB
Paediatr Anaesth
2012 Mar;22(3):256-62.
Epub 2011 Nov 21
doi: 10.1111/j.1460-9592.2011.03739.x.
PMID: 22098343
Koksal Y,
Caliskan U,
Ucar C,
Yurtcu M,
Artac H,
Ilerisoy-Yakut Z,
Reisli I
Pediatr Hematol Oncol
2007 Sep;24(6):431-6.
doi: 10.1080/08880010701451434.
PMID: 17710660
Schroeder SA,
Swift M,
Sandoval C,
Langston C
Pediatr Pulmonol
2005 Jun;39(6):537-43.
doi: 10.1002/ppul.20209.
PMID: 15789441
Prognosis
Reetz K,
Dogan I,
Costa AS,
Dafotakis M,
Fedosov K,
Giunti P,
Parkinson MH,
Sweeney MG,
Mariotti C,
Panzeri M,
Nanetti L,
Arpa J,
Sanz-Gallego I,
Durr A,
Charles P,
Boesch S,
Nachbauer W,
Klopstock T,
Karin I,
Depondt C,
vom Hagen JM,
Schöls L,
Giordano IA,
Klockgether T,
Bürk K,
Pandolfo M,
Schulz JB
Lancet Neurol
2015 Feb;14(2):174-82.
Epub 2015 Jan 5
doi: 10.1016/S1474-4422(14)70321-7.
PMID: 25566998
Koksal Y,
Caliskan U,
Ucar C,
Yurtcu M,
Artac H,
Ilerisoy-Yakut Z,
Reisli I
Pediatr Hematol Oncol
2007 Sep;24(6):431-6.
doi: 10.1080/08880010701451434.
PMID: 17710660
Palau F,
Espinós C
Orphanet J Rare Dis
2006 Nov 17;1:47.
doi: 10.1186/1750-1172-1-47.
PMID: 17112370Free PMC Article
Olsen JH,
Hahnemann JM,
Børresen-Dale AL,
Tretli S,
Kleinerman R,
Sankila R,
Hammarström L,
Robsahm TE,
Kääriäinen H,
Bregård A,
Brøndum-Nielsen K,
Yuen J,
Tucker M
Br J Cancer
2005 Jul 25;93(2):260-5.
doi: 10.1038/sj.bjc.6602658.
PMID: 15942625Free PMC Article
Schroeder SA,
Swift M,
Sandoval C,
Langston C
Pediatr Pulmonol
2005 Jun;39(6):537-43.
doi: 10.1002/ppul.20209.
PMID: 15789441
Clinical prediction guides
Novis LE,
Silva TYT,
Pedroso JL,
Barsottini OGP
Cerebellum
2025 Feb 8;24(2):45.
doi: 10.1007/s12311-025-01798-y.
PMID: 39920364
Shakya S,
Kumari R,
Suroliya V,
Tyagi N,
Joshi A,
Garg A,
Singh I,
Kalikavil Puthanveedu D,
Cherian A,
Mukerji M,
Srivastava AK,
Faruq M
Clin Genet
2019 Dec;96(6):566-574.
Epub 2019 Sep 1
doi: 10.1111/cge.13625.
PMID: 31429931
Canet-Pons J,
Schubert R,
Duecker RP,
Schrewe R,
Wölke S,
Kieslich M,
Schnölzer M,
Chiocchetti A,
Auburger G,
Zielen S,
Warnken U
Neurogenetics
2018 Dec;19(4):237-255.
Epub 2018 Oct 21
doi: 10.1007/s10048-018-0557-5.
PMID: 30343341
Reetz K,
Dogan I,
Costa AS,
Dafotakis M,
Fedosov K,
Giunti P,
Parkinson MH,
Sweeney MG,
Mariotti C,
Panzeri M,
Nanetti L,
Arpa J,
Sanz-Gallego I,
Durr A,
Charles P,
Boesch S,
Nachbauer W,
Klopstock T,
Karin I,
Depondt C,
vom Hagen JM,
Schöls L,
Giordano IA,
Klockgether T,
Bürk K,
Pandolfo M,
Schulz JB
Lancet Neurol
2015 Feb;14(2):174-82.
Epub 2015 Jan 5
doi: 10.1016/S1474-4422(14)70321-7.
PMID: 25566998
Larivière R,
Gaudet R,
Gentil BJ,
Girard M,
Conte TC,
Minotti S,
Leclerc-Desaulniers K,
Gehring K,
McKinney RA,
Shoubridge EA,
McPherson PS,
Durham HD,
Brais B
Hum Mol Genet
2015 Feb 1;24(3):727-39.
Epub 2014 Sep 26
doi: 10.1093/hmg/ddu491.
PMID: 25260547Free PMC Article