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Items: 1 to 50 of 124

1.

Developmental Outcomes of Aicardi Goutières Syndrome.

Adang L, Gavazzi F, De Simone M, Fazzi E, Galli J, Koh J, Kramer-Golinkoff J, De Giorgis V, Orcesi S, Peer K, Ulrick N, Woidill S, Shults J, Vanderver A.

J Child Neurol. 2019 Sep 27:883073819870944. doi: 10.1177/0883073819870944. [Epub ahead of print]

PMID:
31559893
2.

Mutation update for the SATB2 gene.

Zarate YA, Bosanko KA, Caffrey AR, Bernstein JA, Martin DM, Williams MS, Berry-Kravis EM, Mark PR, Manning MA, Bhambhani V, Vargas M, Seeley AH, Estrada-Veras JI, van Dooren MF, Schwab M, Vanderver A, Melis D, Alsadah A, Sadler L, Van Esch H, Callewaert B, Oostra A, Maclean J, Dentici ML, Orlando V, Lipson M, Sparagana SP, Maarup TJ, Alsters SI, Brautbar A, Kovitch E, Naidu S, Lees M, Smith DM, Turner L, Raggio V, Spangenberg L, Garcia-Miñaúr S, Roeder ER, Littlejohn RO, Grange D, Pfotenhauer J, Jones MC, Balasubramanian M, Martinez-Monseny A, Blok LS, Gavrilova R, Fish JL.

Hum Mutat. 2019 Aug;40(8):1013-1029. doi: 10.1002/humu.23771. Epub 2019 Jun 18.

PMID:
31021519
3.

Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation.

Guo L, Bertola DR, Takanohashi A, Saito A, Segawa Y, Yokota T, Ishibashi S, Nishida Y, Yamamoto GL, Franco JFDS, Honjo RS, Kim CA, Musso CM, Timmons M, Pizzino A, Taft RJ, Lajoie B, Knight MA, Fischbeck KH, Singleton AB, Ferreira CR, Wang Z, Yan L, Garbern JY, Simsek-Kiper PO, Ohashi H, Robey PG, Boyde A, Matsumoto N, Miyake N, Spranger J, Schiffmann R, Vanderver A, Nishimura G, Passos-Bueno MRDS, Simons C, Ishikawa K, Ikegawa S.

Am J Hum Genet. 2019 May 2;104(5):925-935. doi: 10.1016/j.ajhg.2019.03.004. Epub 2019 Apr 11.

PMID:
30982609
4.

Neuropathological Findings in a Case of IFIH1-Related Aicardi-Goutières Syndrome.

Gilani A, Adang LA, Vanderver A, Collins A, Kleinschmidt-DeMasters BK.

Pediatr Dev Pathol. 2019 Apr 5:1093526619837797. doi: 10.1177/1093526619837797. [Epub ahead of print]

PMID:
30952201
5.

Leukodystrophy-associated POLR3A mutations down-regulate the RNA polymerase III transcript and important regulatory RNA BC200.

Choquet K, Forget D, Meloche E, Dicaire MJ, Bernard G, Vanderver A, Schiffmann R, Fabian MR, Teichmann M, Coulombe B, Brais B, Kleinman CL.

J Biol Chem. 2019 May 3;294(18):7445-7459. doi: 10.1074/jbc.RA118.006271. Epub 2019 Mar 21.

6.

Dystonia in RNA Polymerase III-Related Leukodystrophy.

Al Yazidi G, Tran LT, Guerrero K, Vanderver A, Schiffmann R, Wolf NI, Chouinard S, Bernard G.

Mov Disord Clin Pract. 2019 Jan 9;6(2):155-159. doi: 10.1002/mdc3.12715. eCollection 2019 Feb.

PMID:
30838315
7.

Cerebral hypomyelination associated with biallelic variants of FIG4.

Lenk GM, Berry IR, Stutterd CA, Blyth M, Green L, Vadlamani G, Warren D, Craven I, Fanjul-Fernandez M, Rodriguez-Casero V, Lockhart PJ, Vanderver A, Simons C, Gibb S, Sadedin S; Broad Center for Mendelian Genomics, White SM, Christodoulou J, Skibina O, Ruddle J, Tan TY, Leventer RJ, Livingston JH, Meisler MH.

Hum Mutat. 2019 May;40(5):619-630. doi: 10.1002/humu.23720. Epub 2019 Feb 28.

PMID:
30740813
8.

Pelizaeus-Merzbacher-Like Disease 1.

Nahhas N, Conant A, Orthmann-Murphy J, Vanderver A, Hobson G.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2017 Dec 21 [updated 2019 Jan 17].

9.

Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy: further delineation of the 17p13.3 microdeletion spectrum.

Emrick LT, Rosenfeld JA, Lalani SR, Jain M, Desai NK, Larson A, Kripps K, Vanderver A, Taft RJ, Bluske K, Perry D, Nagakura H, Immken LL, Burrage LC, Bacino CA, Belmont JW, Network UD, Lee B.

Genet Med. 2019 Jul;21(7):1652-1656. doi: 10.1038/s41436-018-0358-0. Epub 2018 Dec 20.

10.

Author Correction: Neuroimmune disorders of the central nervous system in children in the molecular era.

Wells E, Hacohen Y, Waldman A, Tillema JM, Soldatos A, Ances B, Benseler S, Bielekova B, Dale RC, Dalmau J, Gaillard W, Gorman M, Greenberg B, Hyslop A, Pardo CA, Tasker RC, Yeh EA, Bar-Or A, Pittock S, Vanderver A, Banwell B; attendees of the International Neuroimmune Meeting.

Nat Rev Neurol. 2018 Dec;14(12):749. doi: 10.1038/s41582-018-0077-9.

PMID:
30442924
11.

Correction to Helman et al (2016) MRI spectrum of SDH deficiency-related infantile leukoencephalopathy.

Helman G, Vanderver A.

Ann Neurol. 2018 Sep;84(3):481. doi: 10.1002/ana.25296. No abstract available.

PMID:
30246903
12.

Aicardi goutières syndrome is associated with pulmonary hypertension.

Adang LA, Frank DB, Gilani A, Takanohashi A, Ulrick N, Collins A, Cross Z, Galambos C, Helman G, Kanaan U, Keller S, Simon D, Sherbini O, Hanna BD, Vanderver AL.

Mol Genet Metab. 2018 Dec;125(4):351-358. doi: 10.1016/j.ymgme.2018.09.004. Epub 2018 Sep 7.

PMID:
30219631
13.

Neuroimmune disorders of the central nervous system in children in the molecular era.

Wells E, Hacohen Y, Waldman A, Tillema JM, Soldatos A, Ances B, Benseler S, Bielekova B, Dale RC, Dalmau J, Gaillard W, Gorman M, Greenberg B, Hyslop A, Pardo CA, Tasker RC, Yeh EA, Bar-Or A, Pittock S, Vanderver A, Banwell B; attendees of the International Neuroimmune Meeting.

Nat Rev Neurol. 2018 Jul;14(7):433-445. doi: 10.1038/s41582-018-0024-9. Review. Erratum in: Nat Rev Neurol. 2018 Dec;14(12):749.

PMID:
29925924
14.

Absence of Axoglial Paranodal Junctions in a Child With CNTNAP1 Mutations, Hypomyelination, and Arthrogryposis.

Conant A, Curiel J, Pizzino A, Sabetrasekh P, Murphy J, Bloom M, Evans SH, Helman G, Taft RJ, Simons C, Whitehead MT, Moore SA, Vanderver A.

J Child Neurol. 2018 Sep;33(10):642-650. doi: 10.1177/0883073818776157. Epub 2018 Jun 8.

PMID:
29882456
15.

Health-Related Quality of Life for Patients With Genetically Determined Leukoencephalopathy.

Mirchi A, Pelletier F, Tran LT, Keller S, Braverman N, Tonduti D, Vanderver A, Pizzino A, Dilenge ME, Poulin C, Shevell M, Majnemer A, Sébire G, Srour M, Osterman B, Boucher RM, Vanasse M, Rossignol E, Mitchell J, Venkateswaran S, Pohl D, Kauffman M, Schiffmann R, Goizet C, Moutton S, Roncarolo F, Bernard G.

Pediatr Neurol. 2018 Jul;84:21-26. doi: 10.1016/j.pediatrneurol.2018.03.015. Epub 2018 Apr 9.

PMID:
29859719
16.

Astrocytes, an active player in Aicardi-Goutières syndrome.

Sase S, Takanohashi A, Vanderver A, Almad A.

Brain Pathol. 2018 May;28(3):399-407. doi: 10.1111/bpa.12600. Review.

PMID:
29740948
17.

Mutations in SZT2 result in early-onset epileptic encephalopathy and leukoencephalopathy.

Pizzino A, Whitehead M, Sabet Rasekh P, Murphy J, Helman G, Bloom M, Evans SH, Murnick JG, Conry J, Taft RJ, Simons C, Vanderver A, Adang LA.

Am J Med Genet A. 2018 Jun;176(6):1443-1448. doi: 10.1002/ajmg.a.38717. Epub 2018 Apr 25.

PMID:
29696782
18.

Severe Leukoencephalopathy with Clinical Recovery Caused by Recessive BOLA3 Mutations.

Stutterd CA, Lake NJ, Peters H, Lockhart PJ, Taft RJ, van der Knaap MS, Vanderver A, Thorburn DR, Simons C, Leventer RJ.

JIMD Rep. 2019;43:63-70. doi: 10.1007/8904_2018_100. Epub 2018 Apr 14.

19.

The spectrum of adult-onset heritable white-matter disorders.

Helman G, Venkateswaran S, Vanderver A.

Handb Clin Neurol. 2018;148:669-692. doi: 10.1016/B978-0-444-64076-5.00043-0.

PMID:
29478607
20.

Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement.

Ahrens-Nicklas R, Schlotawa L, Ballabio A, Brunetti-Pierri N, De Castro M, Dierks T, Eichler F, Ficicioglu C, Finglas A, Gaertner J, Kirmse B, Klepper J, Lee M, Olsen A, Parenti G, Vossough A, Vanderver A, Adang LA.

Mol Genet Metab. 2018 Mar;123(3):337-346. doi: 10.1016/j.ymgme.2018.01.005. Epub 2018 Jan 31.

PMID:
29397290
21.

Adulthood leukodystrophies.

Köhler W, Curiel J, Vanderver A.

Nat Rev Neurol. 2018 Feb;14(2):94-105. doi: 10.1038/nrneurol.2017.175. Epub 2018 Jan 5. Review.

PMID:
29302065
22.

TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes.

Curiel J, Rodríguez Bey G, Takanohashi A, Bugiani M, Fu X, Wolf NI, Nmezi B, Schiffmann R, Bugaighis M, Pierson T, Helman G, Simons C, van der Knaap MS, Liu J, Padiath Q, Vanderver A.

Hum Mol Genet. 2017 Nov 15;26(22):4506-4518. doi: 10.1093/hmg/ddx338.

PMID:
28973395
23.

Biallelic mutations in the homeodomain of NKX6-2 underlie a severe hypomyelinating leukodystrophy.

Dorboz I, Aiello C, Simons C, Stone RT, Niceta M, Elmaleh M, Abuawad M, Doummar D, Bruselles A, Wolf NI, Travaglini L, Boespflug-Tanguy O, Tartaglia M, Vanderver A, Rodriguez D, Bertini E.

Brain. 2017 Oct 1;140(10):2550-2556. doi: 10.1093/brain/awx207.

PMID:
28969374
24.

UFM1 founder mutation in the Roma population causes recessive variant of H-ABC.

Hamilton EMC, Bertini E, Kalaydjieva L, Morar B, Dojčáková D, Liu J, Vanderver A, Curiel J, Persoon CM, Diodato D, Pinelli L, van der Meij NL, Plecko B, Blaser S, Wolf NI, Waisfisz Q, Abbink TEM, van der Knaap MS; Recessive H-ABC Research Group.

Neurology. 2017 Oct 24;89(17):1821-1828. doi: 10.1212/WNL.0000000000004578. Epub 2017 Sep 20.

25.

X-linked adrenoleukodystrophy in a chimpanzee due to an ABCD1 mutation reported in multiple unrelated humans.

Curiel J, Steinberg SJ, Bright S, Snowden A, Moser AB, Eichler F, Dubbs HA, Hacia JG, Ely JJ, Bezner J, Gean A, Vanderver A.

Mol Genet Metab. 2017 Nov;122(3):130-133. doi: 10.1016/j.ymgme.2017.08.012. Epub 2017 Sep 1.

PMID:
28919002
26.

Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies.

Adang LA, Sherbini O, Ball L, Bloom M, Darbari A, Amartino H, DiVito D, Eichler F, Escolar M, Evans SH, Fatemi A, Fraser J, Hollowell L, Jaffe N, Joseph C, Karpinski M, Keller S, Maddock R, Mancilla E, McClary B, Mertz J, Morgart K, Langan T, Leventer R, Parikh S, Pizzino A, Prange E, Renaud DL, Rizzo W, Shapiro J, Suhr D, Suhr T, Tonduti D, Waggoner J, Waldman A, Wolf NI, Zerem A, Bonkowsky JL, Bernard G, van Haren K, Vanderver A; Global Leukodystrophy Initiative (GLIA) Consortium.

Mol Genet Metab. 2017 Sep;122(1-2):18-32. doi: 10.1016/j.ymgme.2017.08.006. Epub 2017 Aug 20.

PMID:
28863857
27.

Recessive mutations in NDUFA2 cause mitochondrial leukoencephalopathy.

Perrier S, Gauquelin L, Tétreault M, Tran LT, Webb N, Srour M, Mitchell JJ, Brunel-Guitton C, Majewski J, Long V, Keller S, Gambello MJ, Simons C; Care4Rare Canada Consortium, Vanderver A, Bernard G.

Clin Genet. 2018 Feb;93(2):396-400. doi: 10.1111/cge.13126. Epub 2017 Dec 21.

PMID:
28857146
28.

X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1.

Miyake N, Wolf NI, Cayami FK, Crawford J, Bley A, Bulas D, Conant A, Bent SJ, Gripp KW, Hahn A, Humphray S, Kimura-Ohba S, Kingsbury Z, Lajoie BR, Lal D, Micha D, Pizzino A, Sinke RJ, Sival D, Stolte-Dijkstra I, Superti-Furga A, Ulrick N, Taft RJ, Ogata T, Ozono K, Matsumoto N, Neubauer BA, Simons C, Vanderver A.

Neurogenetics. 2017 Dec;18(4):185-194. doi: 10.1007/s10048-017-0520-x. Epub 2017 Aug 26.

29.

Functionally pathogenic EARS2 variants in vitro may not manifest a phenotype in vivo.

McNeill N, Nasca A, Reyes A, Lemoine B, Cantarel B, Vanderver A, Schiffmann R, Ghezzi D.

Neurol Genet. 2017 Jul 14;3(4):e162. doi: 10.1212/NXG.0000000000000162. eCollection 2017 Aug.

30.

Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots.

Armangue T, Orsini JJ, Takanohashi A, Gavazzi F, Conant A, Ulrick N, Morrissey MA, Nahhas N, Helman G, Gordish-Dressman H, Orcesi S, Tonduti D, Stutterd C, van Haren K, Toro C, Iglesias AD, van der Knaap MS, Goldbach Mansky R, Moser AB, Jones RO, Vanderver A.

Mol Genet Metab. 2017 Nov;122(3):134-139. doi: 10.1016/j.ymgme.2017.07.006. Epub 2017 Jul 20.

31.

Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.

Rice GI, Kitabayashi N, Barth M, Briggs TA, Burton ACE, Carpanelli ML, Cerisola AM, Colson C, Dale RC, Danti FR, Darin N, De Azua B, De Giorgis V, De Goede CGL, Desguerre I, De Laet C, Eslahi A, Fahey MC, Fallon P, Fay A, Fazzi E, Gorman MP, Gowrinathan NR, Hully M, Kurian MA, Leboucq N, Lin JS, Lines MA, Mar SS, Maroofian R, Martí-Sanchez L, McCullagh G, Mojarrad M, Narayanan V, Orcesi S, Ortigoza-Escobar JD, Pérez-Dueñas B, Petit F, Ramsey KM, Rasmussen M, Rivier F, Rodríguez-Pombo P, Roubertie A, Stödberg TI, Toosi MB, Toutain A, Uettwiller F, Ulrick N, Vanderver A, Waldman A, Livingston JH, Crow YJ.

Neuropediatrics. 2017 Jun;48(3):166-184. doi: 10.1055/s-0037-1601449. Epub 2017 Apr 10.

32.

4H Leukodystrophy: A Brain Magnetic Resonance Imaging Scoring System.

Vrij-van den Bos S, Hol JA, La Piana R, Harting I, Vanderver A, Barkhof F, Cayami F, van Wieringen WN, Pouwels PJW, van der Knaap MS, Bernard G, Wolf NI.

Neuropediatrics. 2017 Jun;48(3):152-160. doi: 10.1055/s-0037-1599141. Epub 2017 Mar 1.

PMID:
28561206
33.

POLR3-Related Leukodystrophy.

Bernard G, Vanderver A.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2012 Aug 2 [updated 2017 May 11].

34.

Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.

Jenkinson EM, Rodero MP, Kasher PR, Uggenti C, Oojageer A, Goosey LC, Rose Y, Kershaw CJ, Urquhart JE, Williams SG, Bhaskar SS, O'Sullivan J, Baerlocher GM, Haubitz M, Aubert G, Barañano KW, Barnicoat AJ, Battini R, Berger A, Blair EM, Brunstrom-Hernandez JE, Buckard JA, Cassiman DM, Caumes R, Cordelli DM, De Waele LM, Fay AJ, Ferreira P, Fletcher NA, Fryer AE, Goel H, Hemingway CA, Henneke M, Hughes I, Jefferson RJ, Kumar R, Lagae L, Landrieu PG, Lourenço CM, Malpas TJ, Mehta SG, Metz I, Naidu S, Õunap K, Panzer A, Prabhakar P, Quaghebeur G, Schiffmann R, Sherr EH, Sinnathuray KR, Soh C, Stewart HS, Stone J, Van Esch H, Van Mol CE, Vanderver A, Wakeling EL, Whitney A, Pavitt GD, Griffiths-Jones S, Rice GI, Revy P, van der Knaap MS, Livingston JH, O'Keefe RT, Crow YJ.

Nat Genet. 2017 Jan 31;49(2):317. doi: 10.1038/ng0217-317b. No abstract available.

PMID:
28138155
35.

Alexander Disease.

Tavasoli A, Armangue T, Ho CY, Whitehead M, Bornhorst M, Rhee J, Hwang EI, Wells EM, Packer R, van der Knaap MS, Bugiani M, Vanderver A.

J Child Neurol. 2017 Feb;32(2):184-187. doi: 10.1177/0883073816673263. Epub 2016 Oct 10.

PMID:
28112050
36.

Anti- N-Methyl-d-Aspartate (NMDA) Receptor Encephalitis.

Kahn I, Helman G, Vanderver A, Wells E.

J Child Neurol. 2017 Feb;32(2):243-245. doi: 10.1177/0883073816675557. Epub 2016 Nov 22.

PMID:
27872179
37.

RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection.

Ulrick N, Goldstein A, Simons C, Taft RJ, Helman G, Pizzino A, Bloom M, Vogt J, Pysden K, Diodato D, Martinelli D, Monavari A, Buhas D, van Karnebeek CD, Dorboz I, Boespflug-Tanguy O, Rodriguez D, Tétreault M, Majewski J, Bernard G, Ng YS; Care4Rare Canada Consortium, McFarland R, Vanderver A.

Pediatr Neurol. 2017 Jan;66:59-62. doi: 10.1016/j.pediatrneurol.2016.09.003. Epub 2016 Sep 13.

PMID:
27843092
38.

TUBB4A-Related Leukodystrophy.

Nahhas N, Conant A, Hamilton E, Curiel J, Simons C, van der Knaap M, Vanderver A.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2016 Nov 3.

39.

ACBD5 deficiency causes a defect in peroxisomal very long-chain fatty acid metabolism.

Ferdinandusse S, Falkenberg KD, Koster J, Mooyer PA, Jones R, van Roermund CWT, Pizzino A, Schrader M, Wanders RJA, Vanderver A, Waterham HR.

J Med Genet. 2017 May;54(5):330-337. doi: 10.1136/jmedgenet-2016-104132. Epub 2016 Oct 31.

PMID:
27799409
40.

Corrigendum to "GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease" [Mol. Genet. Metab. 111 (2014) 393-398].

Gotoh L, Inoue K, Helman G, Mora S, Maski K, Soul JS, Bloom M, Evans SH, Goto YI, Caldovic L, Hobson GM, Vanderver A.

Mol Genet Metab. 2016 Nov;119(3):293. doi: 10.1016/j.ymgme.2016.06.011. No abstract available.

PMID:
27780564
41.

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.

Jenkinson EM, Rodero MP, Kasher PR, Uggenti C, Oojageer A, Goosey LC, Rose Y, Kershaw CJ, Urquhart JE, Williams SG, Bhaskar SS, O'Sullivan J, Baerlocher GM, Haubitz M, Aubert G, Barañano KW, Barnicoat AJ, Battini R, Berger A, Blair EM, Brunstrom-Hernandez JE, Buckard JA, Cassiman DM, Caumes R, Cordelli DM, De Waele LM, Fay AJ, Ferreira P, Fletcher NA, Fryer AE, Goel H, Hemingway CA, Henneke M, Hughes I, Jefferson RJ, Kumar R, Lagae L, Landrieu PG, Lourenço CM, Malpas TJ, Mehta SG, Metz I, Naidu S, Õunap K, Panzer A, Prabhakar P, Quaghebeur G, Schiffmann R, Sherr EH, Sinnathuray KR, Soh C, Stewart HS, Stone J, Van Esch H, Van Mol CE, Vanderver A, Wakeling EL, Whitney A, Pavitt GD, Griffiths-Jones S, Rice GI, Revy P, van der Knaap MS, Livingston JH, O'Keefe RT, Crow YJ.

Nat Genet. 2016 Oct;48(10):1185-92. doi: 10.1038/ng.3661. Epub 2016 Aug 29. Erratum in: Nat Genet. 2017 Jan 31;49(2):317.

42.

Update on Leukodystrophies: A Historical Perspective and Adapted Definition.

Kevelam SH, Steenweg ME, Srivastava S, Helman G, Naidu S, Schiffmann R, Blaser S, Vanderver A, Wolf NI, van der Knaap MS.

Neuropediatrics. 2016 Dec;47(6):349-354. Epub 2016 Aug 26. Review.

PMID:
27564080
43.

The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease.

Ng YS, Alston CL, Diodato D, Morris AA, Ulrick N, Kmoch S, Houštěk J, Martinelli D, Haghighi A, Atiq M, Gamero MA, Garcia-Martinez E, Kratochvílová H, Santra S, Brown RM, Brown GK, Ragge N, Monavari A, Pysden K, Ravn K, Casey JP, Khan A, Chakrapani A, Vassallo G, Simons C, McKeever K, O'Sullivan S, Childs AM, Østergaard E, Vanderver A, Goldstein A, Vogt J, Taylor RW, McFarland R.

J Med Genet. 2016 Nov;53(11):768-775. doi: 10.1136/jmedgenet-2016-103910. Epub 2016 Jul 13.

44.

SCN8A encephalopathy: Research progress and prospects.

Meisler MH, Helman G, Hammer MF, Fureman BE, Gaillard WD, Goldin AL, Hirose S, Ishii A, Kroner BL, Lossin C, Mefford HC, Parent JM, Patel M, Schreiber J, Stewart R, Whittemore V, Wilcox K, Wagnon JL, Pearl PL, Vanderver A, Scheffer IE.

Epilepsia. 2016 Jul;57(7):1027-35. doi: 10.1111/epi.13422. Epub 2016 Jun 8.

45.

Genetic Leukoencephalopathies in Adults.

Vanderver A.

Continuum (Minneap Minn). 2016 Jun;22(3):916-42. doi: 10.1212/CON.0000000000000338. Review.

46.

Whole exome sequencing in patients with white matter abnormalities.

Vanderver A, Simons C, Helman G, Crawford J, Wolf NI, Bernard G, Pizzino A, Schmidt JL, Takanohashi A, Miller D, Khouzam A, Rajan V, Ramos E, Chowdhury S, Hambuch T, Ru K, Baillie GJ, Grimmond SM, Caldovic L, Devaney J, Bloom M, Evans SH, Murphy JLP, McNeill N, Fogel BL; Leukodystrophy Study Group, Schiffmann R, van der Knaap MS, Taft RJ.

Ann Neurol. 2016 Jun;79(6):1031-1037. doi: 10.1002/ana.24650. Epub 2016 May 9.

47.

Neurologist Comfort in the Use of Next-Generation Sequencing Diagnostics: Current State and Future Prospects.

Helman G, Bonkowsky JL, Vanderver A.

JAMA Neurol. 2016 Jun 1;73(6):621-2. doi: 10.1001/jamaneurol.2016.0168. No abstract available.

PMID:
27043427
48.

Diffuse hypomyelination is not obligate for POLR3-related disorders.

La Piana R, Cayami FK, Tran LT, Guerrero K, van Spaendonk R, Õunap K, Pajusalu S, Haack T, Wassmer E, Timmann D, Mierzewska H, Poll-Thé BT, Patel C, Cox H, Atik T, Onay H, Ozkınay F, Vanderver A, van der Knaap MS, Wolf NI, Bernard G.

Neurology. 2016 Apr 26;86(17):1622-6. doi: 10.1212/WNL.0000000000002612. Epub 2016 Mar 30.

49.

LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance.

Dallabona C, Abbink TE, Carrozzo R, Torraco A, Legati A, van Berkel CG, Niceta M, Langella T, Verrigni D, Rizza T, Diodato D, Piemonte F, Lamantea E, Fang M, Zhang J, Martinelli D, Bevivino E, Dionisi-Vici C, Vanderver A, Philip SG, Kurian MA, Verma IC, Bijarnia-Mahay S, Jacinto S, Furtado F, Accorsi P, Ardissone A, Moroni I, Ferrero I, Tartaglia M, Goffrini P, Ghezzi D, van der Knaap MS, Bertini E.

Brain. 2016 Mar;139(Pt 3):782-94. doi: 10.1093/brain/awv392. Epub 2016 Jan 29. Erratum in: Brain. 2018 Nov 1;141(11):e82.

PMID:
26912632
50.

Autosomal Dominant Leukodystrophy with Autonomic Disease.

Nahhas N, Sabet Rasekh P, Vanderver A, Padiath Q.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2016 Jan 7.

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