Etiology
Finsterer J,
Löscher W,
Quasthoff S,
Wanschitz J,
Auer-Grumbach M,
Stevanin G
J Neurol Sci
2012 Jul 15;318(1-2):1-18.
Epub 2012 May 1
doi: 10.1016/j.jns.2012.03.025.
PMID: 22554690
Auer-Grumbach M
Orphanet J Rare Dis
2008 Mar 18;3:7.
doi: 10.1186/1750-1172-3-7.
PMID: 18348718Free PMC Article
Kovach MJ,
Campbell KC,
Herman K,
Waggoner B,
Gelber D,
Hughes LF,
Kimonis VE
Am J Med Genet
2002 Apr 1;108(4):295-303.
doi: 10.1002/ajmg.10223.
PMID: 11920834
Kovach MJ,
Lin JP,
Boyadjiev S,
Campbell K,
Mazzeo L,
Herman K,
Rimer LA,
Frank W,
Llewellyn B,
Jabs EW,
Gelber D,
Kimonis VE
Am J Hum Genet
1999 Jun;64(6):1580-93.
doi: 10.1086/302420.
PMID: 10330345Free PMC Article
Thomas PK
J Med Genet
1975 Dec;12(4):317-26.
doi: 10.1136/jmg.12.4.317.
PMID: 176361Free PMC Article
Diagnosis
Beaudoux O,
Lebre AS,
Doco Fenzy M,
Spodenkiewicz M,
Canivet E,
Colosio C,
Poirsier C
Am J Med Genet A
2021 Mar;185(3):937-944.
Epub 2021 Jan 13
doi: 10.1002/ajmg.a.62050.
PMID: 33438842
Finsterer J,
Löscher W,
Quasthoff S,
Wanschitz J,
Auer-Grumbach M,
Stevanin G
J Neurol Sci
2012 Jul 15;318(1-2):1-18.
Epub 2012 May 1
doi: 10.1016/j.jns.2012.03.025.
PMID: 22554690
Bennett CL,
Lawson VH,
Brickell KL,
Isaacs K,
Seltzer W,
Lipe HP,
Weiss MD,
Carter GT,
Flanigan KM,
Chance PF,
Bird TD
Neurology
2008 Jul 1;71(1):14-20.
Epub 2008 May 21
doi: 10.1212/01.wnl.0000304048.94023.73.
PMID: 18495953
Auer-Grumbach M
Orphanet J Rare Dis
2008 Mar 18;3:7.
doi: 10.1186/1750-1172-3-7.
PMID: 18348718Free PMC Article
Rabionet R,
Gasparini P,
Estivill X
Hum Mutat
2000 Sep;16(3):190-202.
doi: 10.1002/1098-1004(200009)16:3<190::AID-HUMU2>3.0.CO;2-I.
PMID: 10980526
Therapy
Franco-Hernández JA,
Muñoz Rodríguez L,
Ortiz de Landázuri PJ,
García Hernández A
Braz J Anesthesiol
2013 Jan;63(1):113-5.
Epub 2013 Aug 7
doi: 10.1016/j.bjane.2012.05.002.
PMID: 24565095
Maljevic S,
Wuttke TV,
Lerche H
J Physiol
2008 Apr 1;586(7):1791-801.
Epub 2008 Jan 31
doi: 10.1113/jphysiol.2008.150656.
PMID: 18238816Free PMC Article
Prognosis
Beaudoux O,
Lebre AS,
Doco Fenzy M,
Spodenkiewicz M,
Canivet E,
Colosio C,
Poirsier C
Am J Med Genet A
2021 Mar;185(3):937-944.
Epub 2021 Jan 13
doi: 10.1002/ajmg.a.62050.
PMID: 33438842
Walker LA,
Bourque P,
Smith AM,
Warman Chardon J
Neuropsychology
2017 Mar;31(3):292-303.
Epub 2016 Nov 21
doi: 10.1037/neu0000322.
PMID: 27869457
Auer-Grumbach M
Orphanet J Rare Dis
2008 Mar 18;3:7.
doi: 10.1186/1750-1172-3-7.
PMID: 18348718Free PMC Article
Kovach MJ,
Campbell KC,
Herman K,
Waggoner B,
Gelber D,
Hughes LF,
Kimonis VE
Am J Med Genet
2002 Apr 1;108(4):295-303.
doi: 10.1002/ajmg.10223.
PMID: 11920834
Kovach MJ,
Lin JP,
Boyadjiev S,
Campbell K,
Mazzeo L,
Herman K,
Rimer LA,
Frank W,
Llewellyn B,
Jabs EW,
Gelber D,
Kimonis VE
Am J Hum Genet
1999 Jun;64(6):1580-93.
doi: 10.1086/302420.
PMID: 10330345Free PMC Article
Clinical prediction guides
Kikuchi JK,
Nagashima Y,
Mano T,
Ishiura H,
Hayashi T,
Shimizu J,
Matsukawa T,
Ichikawa Y,
Takahashi Y,
Karino S,
Kanbayashi T,
Kira J,
Goto J,
Tsuji S
J Mol Neurosci
2021 Sep;71(9):1796-1801.
Epub 2021 Jan 12
doi: 10.1007/s12031-020-01784-5.
PMID: 33433851
Conboy E,
Dhamija R,
Wang M,
Xie J,
Dyck PJ,
Bridges AG,
Spinner RJ,
Clayton AC,
Watson RE,
Messiaen L,
Babovic-Vuksanovic D
J Med Genet
2016 Feb;53(2):123-6.
Epub 2015 Sep 2
doi: 10.1136/jmedgenet-2015-103177.
PMID: 26337637
Moghadam KK,
Pizza F,
La Morgia C,
Franceschini C,
Tonon C,
Lodi R,
Barboni P,
Seri M,
Ferrari S,
Liguori R,
Donadio V,
Parchi P,
Cornelio F,
Inzitari D,
Mignarri A,
Capocchi G,
Dotti MT,
Winkelmann J,
Lin L,
Mignot E,
Carelli V,
Plazzi G
Brain
2014 Jun;137(Pt 6):1643-55.
Epub 2014 Apr 10
doi: 10.1093/brain/awu069.
PMID: 24727570
Auer-Grumbach M
Orphanet J Rare Dis
2008 Mar 18;3:7.
doi: 10.1186/1750-1172-3-7.
PMID: 18348718Free PMC Article
Kovach MJ,
Lin JP,
Boyadjiev S,
Campbell K,
Mazzeo L,
Herman K,
Rimer LA,
Frank W,
Llewellyn B,
Jabs EW,
Gelber D,
Kimonis VE
Am J Hum Genet
1999 Jun;64(6):1580-93.
doi: 10.1086/302420.
PMID: 10330345Free PMC Article