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Items: 1 to 20 of 2334

1.

Modeling the Mutational and Phenotypic Landscapes of Pelizaeus-Merzbacher Disease with Human iPSC-Derived Oligodendrocytes.

Nevin ZS, Factor DC, Karl RT, Douvaras P, Laukka J, Windrem MS, Goldman SA, Fossati V, Hobson GM, Tesar PJ.

Am J Hum Genet. 2017 Apr 6;100(4):617-634. doi: 10.1016/j.ajhg.2017.03.005. Epub 2017 Mar 30.

PMID:
28366443
2.

Hereditary cerebral small vessel disease and stroke.

Søndergaard CB, Nielsen JE, Hansen CK, Christensen H.

Clin Neurol Neurosurg. 2017 Apr;155:45-57. doi: 10.1016/j.clineuro.2017.02.015. Epub 2017 Feb 22. Review.

PMID:
28254515
3.

Childhood leukodystrophies: A literature review of updates on new definitions, classification, diagnostic approach and management.

Ashrafi MR, Tavasoli AR.

Brain Dev. 2017 May;39(5):369-385. doi: 10.1016/j.braindev.2017.01.001. Epub 2017 Jan 20. Review.

PMID:
28117190
4.

Myelin phagocytosis by astrocytes after myelin damage promotes lesion pathology.

Ponath G, Ramanan S, Mubarak M, Housley W, Lee S, Sahinkaya FR, Vortmeyer A, Raine CS, Pitt D.

Brain. 2017 Feb;140(Pt 2):399-413. doi: 10.1093/brain/aww298. Epub 2016 Dec 21.

PMID:
28007993
5.

Lamin B1 mediated demyelination: Linking Lamins, Lipids and Leukodystrophies.

Padiath QS.

Nucleus. 2016 Nov;7(6):547-553. doi: 10.1080/19491034.2016.1260799. Review.

PMID:
27854160
6.

Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes.

Torraco A, Ardissone A, Invernizzi F, Rizza T, Fiermonte G, Niceta M, Zanetti N, Martinelli D, Vozza A, Verrigni D, Di Nottia M, Lamantea E, Diodato D, Tartaglia M, Dionisi-Vici C, Moroni I, Farina L, Bertini E, Ghezzi D, Carrozzo R.

J Neurol. 2017 Jan;264(1):102-111. doi: 10.1007/s00415-016-8312-z. Epub 2016 Oct 26.

PMID:
27785568
7.

The first Japanese case of leukodystrophy with ovarian failure arising from novel compound heterozygous AARS2 mutations.

Hamatani M, Jingami N, Tsurusaki Y, Shimada S, Shimojima K, Asada-Utsugi M, Yoshinaga K, Uemura N, Yamashita H, Uemura K, Takahashi R, Matsumoto N, Yamamoto T.

J Hum Genet. 2016 Oct;61(10):899-902. doi: 10.1038/jhg.2016.64. Epub 2016 Jun 2.

PMID:
27251004
8.

Severe leukoencephalopathy with cortical involvement and peripheral neuropathy due to FOLR1 deficiency.

Kobayashi Y, Tohyama J, Akiyama T, Magara S, Kawashima H, Akasaka N, Nakashima M, Saitsu H, Matsumoto N.

Brain Dev. 2017 Mar;39(3):266-270. doi: 10.1016/j.braindev.2016.09.011. Epub 2016 Oct 12.

PMID:
27743887
9.

Glycosynthase mediated synthesis of psychosine.

Goddard-Borger ED, Tysoe C, Withers SG.

Carbohydr Res. 2016 Nov 29;435:97-99. doi: 10.1016/j.carres.2016.09.013. Epub 2016 Sep 22.

PMID:
27721144
10.

An unusual neuroimaging finding and response to immunotherapy in a child with genetically confirmed vanishing white matter disease.

Singh RR, Livingston J, Lim M, Berry IR, Siddiqui A.

Eur J Paediatr Neurol. 2017 Mar;21(2):410-413. doi: 10.1016/j.ejpn.2016.08.012. Epub 2016 Sep 6.

PMID:
27665184
11.

Screening: Baby's first test.

Gupta S.

Nature. 2016 Sep 22;537(7621):S162-4. doi: 10.1038/537S162a. No abstract available.

PMID:
27652786
12.

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
13.

Thickening of the peripheral nerves in metachromatic leukodystrophy.

Grimm A, Schäffer E, Just J, Schöls L, Kehrer C, Bevot A, Ziemann U, Krageloh-Mann I.

J Neurol Sci. 2016 Sep 15;368:399-401. doi: 10.1016/j.jns.2016.07.030. Epub 2016 Jul 14. No abstract available.

PMID:
27538671
14.

Congenital-onset spastic paraplegia in a patient with TUBB4A mutation and mild hypomyelination.

Nicita F, Bertini E, Travaglini L, Armando M, Aiello C.

J Neurol Sci. 2016 Sep 15;368:145-6. doi: 10.1016/j.jns.2016.07.002. Epub 2016 Jul 2. No abstract available.

PMID:
27538619
15.

Expert opinion and caution are imperative for interpretation of next generation sequencing data.

Thiffault I, Bernard G.

Eur J Med Genet. 2016 Oct;59(10):519-21. doi: 10.1016/j.ejmg.2016.08.002. Epub 2016 Aug 12.

PMID:
27535217
16.

Insights into the Pathogenesis and Treatment of Krabbe Disease.

Bongarzone ER, Escolar ML, Gray SJ, Kafri T, Vite CH, Sands MS.

Pediatr Endocrinol Rev. 2016 Jun;13 Suppl 1:689-96. Review.

PMID:
27491217
17.

Alexander disease - astrogliopathy considered as leukodystrophy - experience of an institution.

Mierzewska H, Mierzewska-Schmidt M, Salomons GS, Dudzińska M, Szczepanik E.

Dev Period Med. 2016 Apr-Jun;20(2):110-7.

18.

Compound Galactosylceramidase Gene (GALC) Heterozygosity in a Boy with Infantile Krabbe Disease (KD).

Gucev Z, Tasic V.

Pril (Makedon Akad Nauk Umet Odd Med Nauki). 2015;36(3):99-101. doi: 10.1515/prilozi-2015-0084.

PMID:
27442402
19.

Metabolic, endocrine, and other genetic disorders.

Dahmoush HM, Melhem ER, Vossough A.

Handb Clin Neurol. 2016;136:1221-59. doi: 10.1016/B978-0-444-53486-6.00063-6. Review.

PMID:
27430466
20.

Hereditary and metabolic myelopathies.

Hedera P.

Handb Clin Neurol. 2016;136:769-85. doi: 10.1016/B978-0-444-53486-6.00038-7. Review.

PMID:
27430441

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