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Items: 1 to 50 of 135

1.

Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial.

Groeneweg S, Peeters RP, Moran C, Stoupa A, Auriol F, Tonduti D, Dica A, Paone L, Rozenkova K, Malikova J, van der Walt A, de Coo IFM, McGowan A, Lyons G, Aarsen FK, Barca D, van Beynum IM, van der Knoop MM, Jansen J, Manshande M, Lunsing RJ, Nowak S, den Uil CA, Zillikens MC, Visser FE, Vrijmoeth P, de Wit MCY, Wolf NI, Zandstra A, Ambegaonkar G, Singh Y, de Rijke YB, Medici M, Bertini ES, Depoorter S, Lebl J, Cappa M, De Meirleir L, Krude H, Craiu D, Zibordi F, Oliver Petit I, Polak M, Chatterjee K, Visser TJ, Visser WE.

Lancet Diabetes Endocrinol. 2019 Sep;7(9):695-706. doi: 10.1016/S2213-8587(19)30155-X. Epub 2019 Jul 31.

PMID:
31377265
2.

Diagnosis, prognosis, and treatment of leukodystrophies.

van der Knaap MS, Schiffmann R, Mochel F, Wolf NI.

Lancet Neurol. 2019 Jul 12. pii: S1474-4422(19)30143-7. doi: 10.1016/S1474-4422(19)30143-7. [Epub ahead of print] Review.

PMID:
31307818
3.

De novo SPAST mutations may cause a complex SPG4 phenotype.

Schieving JH, de Bot ST, van de Pol LA, Wolf NI, Brilstra EH, Frints SG, van Gaalen J, Misra-Isrie M, Pennings M, Verschuuren-Bemelmans CC, Kamsteeg EJ, van de Warrenburg BP, Willemsen MA.

Brain. 2019 Jun 3. pii: awz140. doi: 10.1093/brain/awz140. [Epub ahead of print] No abstract available.

PMID:
31157359
4.

Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement.

Harting I, Karch S, Moog U, Seitz A, Pouwels PJW, Wolf NI.

AJNR Am J Neuroradiol. 2019 May;40(5):903-907. doi: 10.3174/ajnr.A6051. Epub 2019 May 2.

PMID:
31048294
5.

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
6.

Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients.

Vals MA, Ashikov A, Ilves P, Loorits D, Zeng Q, Barone R, Huijben K, Sykut-Cegielska J, Diogo L, Elias AF, Greenwood RS, Grunewald S, van Hasselt PM, van de Kamp JM, Mancini G, Okninska A, Pajusalu S, Rudd PM, Rustad CF, Salvarinova R, de Vries BBA, Wolf NI; EPGEN Study, Ng BG, Freeze HH, Lefeber DJ, Õunap K.

J Inherit Metab Dis. 2019 May;42(3):553-564. doi: 10.1002/jimd.12055. Epub 2019 Feb 11.

PMID:
30746764
7.

Variable Interpretation of the Dystonia Consensus Classification Items Compromises Its Solidity.

van Egmond ME, Contarino MF, Lugtenberg CHA, Peall KJ, Brouwer OF, Fung VSC, Roze E, Stewart RE, Willemsen MA, Wolf NI, de Koning TJ, Tijssen MA.

Mov Disord. 2019 Mar;34(3):317-320. doi: 10.1002/mds.27627. Epub 2019 Feb 6. No abstract available.

PMID:
30726575
8.

PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights.

Johnstone DL, Al-Shekaili HH, Tarailo-Graovac M, Wolf NI, Ivy AS, Demarest S, Roussel Y, Ciapaite J, van Roermund CWT, Kernohan KD, Kosuta C, Ban K, Ito Y, McBride S, Al-Thihli K, Abdelrahim RA, Koul R, Al Futaisi A, Haaxma CA, Olson H, Sigurdardottir LY, Arnold GL, Gerkes EH, Boon M, Heiner-Fokkema MR, Noble S, Bosma M, Jans J, Koolen DA, Kamsteeg EJ, Drögemöller B, Ross CJ, Majewski J, Cho MT, Begtrup A, Wasserman WW, Bui T, Brimble E, Violante S, Houten SM, Wevers RA, van Faassen M, Kema IP, Lepage N; Care4Rare Canada Consortium, Lines MA, Dyment DA, Wanders RJA, Verhoeven-Duif N, Ekker M, Boycott KM, Friedman JM, Pena IA, van Karnebeek CDM.

Brain. 2019 Mar 1;142(3):542-559. doi: 10.1093/brain/awy346.

PMID:
30668673
9.

Lysosomal dysfunction in TMEM106B hypomyelinating leukodystrophy.

Ito Y, Hartley T, Baird S, Venkateswaran S, Simons C, Wolf NI, Boycott KM, Dyment DA, Kernohan KD.

Neurol Genet. 2018 Nov 13;4(6):e288. doi: 10.1212/NXG.0000000000000288. eCollection 2018 Dec. No abstract available.

10.

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.

Ghosh SG, Becker K, Huang H, Dixon-Salazar T, Chai G, Salpietro V, Al-Gazali L, Waisfisz Q, Wang H, Vaux KK, Stanley V, Manole A, Akpulat U, Weiss MM, Efthymiou S, Hanna MG, Minetti C, Striano P, Pisciotta L, De Grandis E, Altmüller J, Nürnberg P, Thiele H, Yis U, Okur TD, Polat AI, Amiri N, Doosti M, Karimani EG, Toosi MB, Haddad G, Karakaya M, Wirth B, van Hagen JM, Wolf NI, Maroofian R, Houlden H, Cirak S, Gleeson JG.

Am J Hum Genet. 2018 Nov 1;103(5):826. doi: 10.1016/j.ajhg.2018.10.002. No abstract available.

11.

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.

Ghosh SG, Becker K, Huang H, Dixon-Salazar T, Chai G, Salpietro V, Al-Gazali L, Waisfisz Q, Wang H, Vaux KK, Stanley V, Manole A, Akpulat U, Weiss MM, Efthymiou S, Hanna MG, Minetti C, Striano P, Pisciotta L, De Grandis E, Altmüller J, Nürnberg P, Thiele H, Yis U, Okur TD, Polat AI, Amiri N, Doosti M, Karimani EG, Toosi MB, Haddad G, Karakaya M, Wirth B, van Hagen JM, Wolf NI, Maroofian R, Houlden H, Cirak S, Gleeson JG.

Am J Hum Genet. 2018 Sep 6;103(3):431-439. doi: 10.1016/j.ajhg.2018.07.010. Epub 2018 Aug 9. Erratum in: Am J Hum Genet. 2018 Nov 1;103(5):826.

12.

Resident and Fellow Section in Neuropediatrics.

Ebrahimi-Fakhari D, Neubauer B, Plecko B, Wolf NI.

Neuropediatrics. 2018 Aug;49(4):229-230. doi: 10.1055/s-0038-1666857. Epub 2018 Jun 27. No abstract available.

PMID:
29949814
13.

PRUNE1 Deficiency: Expanding the Clinical and Genetic Spectrum.

Alhaddad B, Schossig A, Haack TB, Kovács-Nagy R, Braunisch MC, Makowski C, Senderek J, Vill K, Müller-Felber W, Strom TM, Krabichler B, Freisinger P, Deshpande C, Polster T, Wolf NI, Desguerre I, Wörmann F, Rötig A, Ahting U, Kopajtich R, Prokisch H, Meitinger T, Feichtinger RG, Mayr JA, Jungbluth H, Hubmann M, Zschocke J, Distelmaier F, Koch J.

Neuropediatrics. 2018 Oct;49(5):330-338. doi: 10.1055/s-0038-1661396. Epub 2018 Jun 25.

PMID:
29940663
14.

Aminoacyl-tRNA synthetase deficiencies in search of common themes.

Fuchs SA, Schene IF, Kok G, Jansen JM, Nikkels PGJ, van Gassen KLI, Terheggen-Lagro SWJ, van der Crabben SN, Hoeks SE, Niers LEM, Wolf NI, de Vries MC, Koolen DA, Houwen RHJ, Mulder MF, van Hasselt PM.

Genet Med. 2019 Feb;21(2):319-330. doi: 10.1038/s41436-018-0048-y. Epub 2018 Jun 6.

PMID:
29875423
15.

Intrathecal baclofen in metachromatic leukodystrophy.

van der Veldt N, van Rappard DF, van de Pol LA, van der Knaap MS, van Ouwerkerk WJR, Becher JG, Wolf NI, Buizer AI.

Dev Med Child Neurol. 2019 Feb;61(2):232-235. doi: 10.1111/dmcn.13919. Epub 2018 May 27.

PMID:
29806077
16.

Megalencephalic leukoencephalopathy with subcortical cysts: Characterization of disease variants.

Hamilton EMC, Tekturk P, Cialdella F, van Rappard DF, Wolf NI, Yalcinkaya C, Çetinçelik Ü, Rajaee A, Kariminejad A, Paprocka J, Yapici Z, Bošnjak VM, van der Knaap MS; MLC Research Group.

Neurology. 2018 Apr 17;90(16):e1395-e1403. doi: 10.1212/WNL.0000000000005334. Epub 2018 Mar 21.

17.

ATAD1 encephalopathy and stiff baby syndrome: a recognizable clinical presentation.

Wolf NI, Zschocke J, Jakobs C, Rating D, Hoffmann GF.

Brain. 2018 Jun 1;141(6):e49. doi: 10.1093/brain/awy095. No abstract available.

PMID:
29659736
18.

Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy.

Mendes MI, Gutierrez Salazar M, Guerrero K, Thiffault I, Salomons GS, Gauquelin L, Tran LT, Forget D, Gauthier MS, Waisfisz Q, Smith DEC, Simons C, van der Knaap MS, Marquardt I, Lemes A, Mierzewska H, Weschke B, Koehler W, Coulombe B, Wolf NI, Bernard G.

Am J Hum Genet. 2018 Apr 5;102(4):676-684. doi: 10.1016/j.ajhg.2018.02.011. Epub 2018 Mar 22.

19.

Reply: The recurrent mutation in TMEM106B also causes hypomyelinating leukodystrophy in China and is a CpG hotspot.

Simons C, Dyment D, van der Knaap MS, Wolf NI.

Brain. 2018 May 1;141(5):e37. doi: 10.1093/brain/awy030. No abstract available.

PMID:
29444246
20.

Slowly Progressive Psychiatric Symptoms: Think Metachromatic Leukodystrophy.

van Rappard DF, de Vries ALC, Oostrom KJ, Boelens JJ, Hollak CEM, van der Knaap MS, Wolf NI.

J Am Acad Child Adolesc Psychiatry. 2018 Feb;57(2):74-76. doi: 10.1016/j.jaac.2017.11.017. No abstract available.

PMID:
29413149
21.

Diffusion tensor imaging in metachromatic leukodystrophy.

van Rappard DF, Königs M, Steenweg ME, Boelens JJ, Oosterlaan J, van der Knaap MS, Wolf NI, Pouwels PJW.

J Neurol. 2018 Mar;265(3):659-668. doi: 10.1007/s00415-018-8765-3. Epub 2018 Jan 30.

22.

POLR3A variants in hereditary spastic paraplegia and ataxia.

Gauquelin L, Tétreault M, Thiffault I, Farrow E, Miller N, Yoo B, Bareke E, Yoon G, Suchowersky O, Dupré N, Tarnopolsky M, Brais B, Wolf NI, Majewski J, Rouleau GA, Gan-Or Z, Bernard G.

Brain. 2018 Jan 1;141(1):e1. doi: 10.1093/brain/awx290. No abstract available.

23.

A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy.

Simons C, Dyment D, Bent SJ, Crawford J, D'Hooghe M, Kohlschütter A, Venkateswaran S, Helman G, Poll-The BT, Makowski CC, Ito Y, Kernohan K, Hartley T, Waisfisz Q, Taft RJ; Care4Rare Consortium, van der Knaap MS, Wolf NI.

Brain. 2017 Dec 1;140(12):3105-3111. doi: 10.1093/brain/awx314.

24.

4H Leukodystrophy: Lessons from 3T Imaging.

Cayami FK, Bugiani M, Pouwels PJW, Bernard G, van der Knaap MS, Wolf NI.

Neuropediatrics. 2018 Apr;49(2):112-117. doi: 10.1055/s-0037-1608780. Epub 2017 Nov 27.

PMID:
29179231
25.

Non-motor symptoms and quality of life in dopa-responsive dystonia patients.

Timmers ER, Kuiper A, Smit M, Bartels AL, Kamphuis DJ, Wolf NI, Poll-The BT, Wassenberg T, Peeters EAJ, de Koning TJ, Tijssen MAJ.

Parkinsonism Relat Disord. 2017 Dec;45:57-62. doi: 10.1016/j.parkreldis.2017.10.005. Epub 2017 Oct 10.

PMID:
29066160
26.

Correction to: A phase I/II study of gemcitabine during radiotherapy in children with newly diagnosed diffuse intrinsic pontine glioma.

Veldhuijzen van Zanten SEM, El-Khouly FE, Jansen MHA, Bakker DP, Sanchez Aliaga E, Haasbeek CJA, Wolf NI, Zwaan CM, Vandertop WP, van Vuurden DG, Kaspers GJL.

J Neurooncol. 2018 Jan;136(1):219-220. doi: 10.1007/s11060-017-2636-0.

PMID:
29063425
27.

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
28.

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
29.

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.

30.

Quantitative MR spectroscopic imaging in metachromatic leukodystrophy: value for prognosis and treatment.

van Rappard DF, Klauser A, Steenweg ME, Boelens JJ, Bugiani M, van der Knaap MS, Wolf NI, Pouwels PJW.

J Neurol Neurosurg Psychiatry. 2018 Jan;89(1):105-111. doi: 10.1136/jnnp-2017-316364. Epub 2017 Sep 9.

PMID:
28889092
31.

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
32.

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.

33.

A phase I/II study of gemcitabine during radiotherapy in children with newly diagnosed diffuse intrinsic pontine glioma.

Veldhuijzen van Zanten SEM, El-Khouly FE, Jansen MHA, Bakker DP, Sanchez Aliaga E, Haasbeek CJA, Wolf NI, Zwaan CM, Vandertop WP, van Vuurden DG, Kaspers GJL.

J Neurooncol. 2017 Nov;135(2):307-315. doi: 10.1007/s11060-017-2575-9. Epub 2017 Jul 26. Erratum in: J Neurooncol. 2017 Oct 23;:.

34.

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
35.

A mutation in the Tubb4a gene leads to microtubule accumulation with hypomyelination and demyelination.

Duncan ID, Bugiani M, Radcliff AB, Moran JJ, Lopez-Anido C, Duong P, August BK, Wolf NI, van der Knaap MS, Svaren J.

Ann Neurol. 2017 May;81(5):690-702. doi: 10.1002/ana.24930. Epub 2017 May 9.

36.

A post hoc study on gene panel analysis for the diagnosis of dystonia.

van Egmond ME, Lugtenberg CHA, Brouwer OF, Contarino MF, Fung VSC, Heiner-Fokkema MR, van Hilten JJ, van der Hout AH, Peall KJ, Sinke RJ, Roze E, Verschuuren-Bemelmans CC, Willemsen MA, Wolf NI, Tijssen MA, de Koning TJ.

Mov Disord. 2017 Apr;32(4):569-575. doi: 10.1002/mds.26937. Epub 2017 Feb 10.

PMID:
28186668
37.

Leukodystrophies: Five new things.

van der Knaap MS, Wolf NI, Heine VM.

Neurol Clin Pract. 2016 Dec;6(6):506-514. doi: 10.1212/CPJ.0000000000000289.

38.

RARS2 Mutations: Is Pontocerebellar Hypoplasia Type 6 a Mitochondrial Encephalopathy?

van Dijk T, van Ruissen F, Jaeger B, Rodenburg RJ, Tamminga S, van Maarle M, Baas F, Wolf NI, Poll-The BT.

JIMD Rep. 2017;33:87-92. doi: 10.1007/8904_2016_584. Epub 2016 Sep 29.

39.

SLC13A5 is the second gene associated with Kohlschütter-Tönz syndrome.

Schossig A, Bloch-Zupan A, Lussi A, Wolf NI, Raskin S, Cohen M, Giuliano F, Jurgens J, Krabichler B, Koolen DA, de Macena Sobreira NL, Maurer E, Muller-Bolla M, Penzien J, Zschocke J, Kapferer-Seebacher I.

J Med Genet. 2017 Jan;54(1):54-62. doi: 10.1136/jmedgenet-2016-103988. Epub 2016 Sep 6.

PMID:
27600704
40.

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
41.

Quantitative MRI in hypomyelinating disorders: Correlation with motor handicap.

Steenweg ME, Wolf NI, van Wieringen WN, Barkhof F, van der Knaap MS, Pouwels PJ.

Neurology. 2016 Aug 23;87(8):752-8. doi: 10.1212/WNL.0000000000003000. Epub 2016 Jul 20.

PMID:
27440150
42.

Gallbladder and the risk of polyps and carcinoma in metachromatic leukodystrophy.

van Rappard DF, Bugiani M, Boelens JJ, van der Steeg AF, Daams F, de Meij TG, van Doorn MM, van Hasselt PM, Gouma DJ, Verbeke JI, Hollak CE, van Hecke W, Salomons GS, van der Knaap MS, Wolf NI.

Neurology. 2016 Jul 5;87(1):103-11. doi: 10.1212/WNL.0000000000002811. Epub 2016 Jun 3.

PMID:
27261095
43.

Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy.

Madeo M, Stewart M, Sun Y, Sahir N, Wiethoff S, Chandrasekar I, Yarrow A, Rosenfeld JA, Yang Y, Cordeiro D, McCormick EM, Muraresku CC, Jepperson TN, McBeth LJ, Seidahmed MZ, El Khashab HY, Hamad M, Azzedine H, Clark K, Corrochano S, Wells S, Elting MW, Weiss MM, Burn S, Myers A, Landsverk M, Crotwell PL, Waisfisz Q, Wolf NI, Nolan PM, Padilla-Lopez S, Houlden H, Lifton R, Mane S, Singh BB, Falk MJ, Mercimek-Mahmutoglu S, Bilguvar K, Salih MA, Acevedo-Arozena A, Kruer MC.

Am J Hum Genet. 2016 Jun 2;98(6):1249-1255. doi: 10.1016/j.ajhg.2016.04.008. Epub 2016 May 26.

44.

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.

45.

Efficacy of hematopoietic cell transplantation in metachromatic leukodystrophy: the Dutch experience.

van Rappard DF, Boelens JJ, van Egmond ME, Kuball J, van Hasselt PM, Oostrom KJ, Pouwels PJ, van der Knaap MS, Hollak CE, Wolf NI.

Blood. 2016 Jun 16;127(24):3098-101. doi: 10.1182/blood-2016-03-708479. Epub 2016 Apr 26. No abstract available.

46.

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.

47.

Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures.

Knierim E, Hirata H, Wolf NI, Morales-Gonzalez S, Schottmann G, Tanaka Y, Rudnik-Schöneborn S, Orgeur M, Zerres K, Vogt S, van Riesen A, Gill E, Seifert F, Zwirner A, Kirschner J, Goebel HH, Hübner C, Stricker S, Meierhofer D, Stenzel W, Schuelke M.

Am J Hum Genet. 2016 Mar 3;98(3):473-489. doi: 10.1016/j.ajhg.2016.01.006. Epub 2016 Feb 25.

48.

Early-Onset Severe Encephalopathy with Epilepsy: The BRAT1 Gene Should Be Added to the List of Causes.

van de Pol LA, Wolf NI, van Weissenbruch MM, Stam CJ, Weiss JM, Waisfisz Q, Kevelam SH, Bugiani M, van de Kamp JM, van der Knaap MS.

Neuropediatrics. 2015 Dec;46(6):392-400. doi: 10.1055/s-0035-1564791. Epub 2015 Nov 4.

PMID:
26535877
49.

Differential Diagnosis of Cerebellar Atrophy in Childhood: An Update.

Poretti A, Wolf NI, Boltshauser E.

Neuropediatrics. 2015 Dec;46(6):359-70. doi: 10.1055/s-0035-1564620. Epub 2015 Oct 7.

PMID:
26444039
50.

Volumetric MRI data correlate to disease severity in metachromatic leukodystrophy.

Tillema JM, Derks MG, Pouwels PJ, de Graaf P, van Rappard DF, Barkhof F, Steenweg ME, van der Knaap MS, Wolf NI.

Ann Clin Transl Neurol. 2015 Sep;2(9):932-40. doi: 10.1002/acn3.232. Epub 2015 Aug 24.

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