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Items: 28

1.

Stem cell transplant arrests decline in case of CSF1R leukoencephalopathy.

Lynch DS, Houlden H.

J Neurol Neurosurg Psychiatry. 2019 Aug 10. pii: jnnp-2019-321021. doi: 10.1136/jnnp-2019-321021. [Epub ahead of print] No abstract available.

PMID:
31401565
2.

PUS3 mutations are associated with intellectual disability, leukoencephalopathy, and nephropathy.

de Paiva ARB, Lynch DS, Melo US, Lucato LT, Freua F, de Assis BDR, Barcelos I, Listik C, de Castro Dos Santos D, Macedo-Souza LI, Houlden H, Kok F.

Neurol Genet. 2019 Jan 16;5(1):e306. doi: 10.1212/NXG.0000000000000306. eCollection 2019 Feb. No abstract available.

3.

Practical approach to the diagnosis of adult-onset leukodystrophies: an updated guide in the genomic era.

Lynch DS, Wade C, Paiva ARB, John N, Kinsella JA, Merwick Á, Ahmed RM, Warren JD, Mummery CJ, Schott JM, Fox NC, Houlden H, Adams ME, Davagnanam I, Murphy E, Chataway J.

J Neurol Neurosurg Psychiatry. 2019 May;90(5):543-554. doi: 10.1136/jnnp-2018-319481. Epub 2018 Nov 22. Review.

4.

Clinical aspects of hereditary spastic paraplegia 76 and novel CAPN1 mutations.

Melo US, Freua F, Lynch DS, Ripa BD, Tenorio RB, Saute JAM, de Souza Leite F, Kitajima J, Houlden H, Zatz M, Kok F.

Clin Genet. 2018 Nov;94(5):482-483. doi: 10.1111/cge.13428. Epub 2018 Sep 10. No abstract available.

PMID:
30198554
5.

A novel complex neurological phenotype due to a homozygous mutation in FDX2.

Gurgel-Giannetti J, Lynch DS, Paiva ARB, Lucato LT, Yamamoto G, Thomsen C, Basu S, Freua F, Giannetti AV, de Assis BDR, Ribeiro MDO, Barcelos I, Sayão Souza K, Monti F, Melo US, Amorim S, Silva LGL, Macedo-Souza LI, Vianna-Morgante AM, Hirano M, Van der Knaap MS, Lill R, Vainzof M, Oldfors A, Houlden H, Kok F.

Brain. 2018 Aug 1;141(8):2289-2298. doi: 10.1093/brain/awy172.

6.

The Diagnostic Value of MRI Pattern Recognition in Distal Myopathies.

Bugiardini E, Morrow JM, Shah S, Wood CL, Lynch DS, Pitmann AM, Reilly MM, Houlden H, Matthews E, Parton M, Hanna MG, Straub V, Yousry TA.

Front Neurol. 2018 Jun 26;9:456. doi: 10.3389/fneur.2018.00456. eCollection 2018.

7.

Mutations in XRCC1 cause cerebellar ataxia and peripheral neuropathy.

O'Connor E, Vandrovcova J, Bugiardini E, Chelban V, Manole A, Davagnanam I, Wiethoff S, Pittman A, Lynch DS, Efthymiou S, Marino S, Manzur AY, Roberts M, Hanna MG, Houlden H, Matthews E, Wood NW.

J Neurol Neurosurg Psychiatry. 2018 Nov;89(11):1230-1232. doi: 10.1136/jnnp-2017-317581. Epub 2018 Feb 22. No abstract available.

8.

GLS loss of function causes autosomal recessive spastic ataxia and optic atrophy.

Lynch DS, Chelban V, Vandrovcova J, Pittman A, Wood NW, Houlden H.

Ann Clin Transl Neurol. 2018 Jan 22;5(2):216-221. doi: 10.1002/acn3.522. eCollection 2018 Feb.

9.

Nonsyndromic Parkinson disease in a family with autosomal dominant optic atrophy due to OPA1 mutations.

Lynch DS, Loh SHY, Harley J, Noyce AJ, Martins LM, Wood NW, Houlden H, Plun-Favreau H.

Neurol Genet. 2017 Sep 22;3(5):e188. doi: 10.1212/NXG.0000000000000188. eCollection 2017 Oct. No abstract available.

10.

Homozygous mutation in HSPB1 causing distal vacuolar myopathy and motor neuropathy.

Bugiardini E, Rossor AM, Lynch DS, Swash M, Pittman AM, Blake JC, Hanna MG, Houlden H, Holton JL, Reilly MM, Matthews E.

Neurol Genet. 2017 Jul 6;3(4):e168. doi: 10.1212/NXG.0000000000000168. eCollection 2017 Aug. No abstract available.

11.

Brainstem phenotype of cathepsin A-related arteriopathy with strokes and leukoencephalopathy.

Hwang YT, Lakshmanan R, Davagnanam I, Thompson AGB, Lynch DS, Houlden H, Bajaj N, Eriksson SH, Bamiou DE, Warren JD.

Neurol Genet. 2017 Jul 6;3(4):e165. doi: 10.1212/NXG.0000000000000165. eCollection 2017 Aug. No abstract available.

12.

Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination.

Chelban V, Patel N, Vandrovcova J, Zanetti MN, Lynch DS, Ryten M, Botía JA, Bello O, Tribollet E, Efthymiou S, Davagnanam I; SYNAPSE Study Group, Bashiri FA, Wood NW, Rothman JE, Alkuraya FS, Houlden H.

Am J Hum Genet. 2017 Jun 1;100(6):969-977. doi: 10.1016/j.ajhg.2017.05.009.

13.

Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia.

Chelban V, Tucci A, Lynch DS, Polke JM, Santos L, Jonvik H, Groppa S, Wood NW, Houlden H.

J Neurol Neurosurg Psychiatry. 2017 Aug;88(8):681-687. doi: 10.1136/jnnp-2017-315796. Epub 2017 Jun 1.

14.

Letter re: Mystery Case: CSF-1R mutation is a cause of intracranial cerebral calcifications, cysts, and leukoencephalopathy.

Lynch DS, Houlden H.

Neurology. 2017 May 16;88(20):1978. doi: 10.1212/WNL.0000000000003948. No abstract available.

PMID:
28507263
15.

Clinical and genetic characterization of leukoencephalopathies in adults.

Lynch DS, Rodrigues Brandão de Paiva A, Zhang WJ, Bugiardini E, Freua F, Tavares Lucato L, Macedo-Souza LI, Lakshmanan R, Kinsella JA, Merwick A, Rossor AM, Bajaj N, Herron B, McMonagle P, Morrison PJ, Hughes D, Pittman A, Laurà M, Reilly MM, Warren JD, Mummery CJ, Schott JM, Adams M, Fox NC, Murphy E, Davagnanam I, Kok F, Chataway J, Houlden H.

Brain. 2017 May 1;140(5):1204-1211. doi: 10.1093/brain/awx045.

16.

Redefining the phenotype of ALSP and AARS2 mutation-related leukodystrophy.

Lakshmanan R, Adams ME, Lynch DS, Kinsella JA, Phadke R, Schott JM, Murphy E, Rohrer JD, Chataway J, Houlden H, Fox NC, Davagnanam I.

Neurol Genet. 2017 Feb 15;3(2):e135. doi: 10.1212/NXG.0000000000000135. eCollection 2017 Apr. Review.

17.

Polymyositis without Beneficial Response to Steroid Therapy: Should Miyoshi Myopathy be a Differential Diagnosis?

Scalco RS, Lorenzoni PJ, Lynch DS, Martins WA, Jungbluth H, Quinlivan R, Becker J, Houlden H.

Am J Case Rep. 2017 Jan 5;18:17-21.

18.

Analysis of Mutations in AARS2 in a Series of CSF1R-Negative Patients With Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia.

Lynch DS, Zhang WJ, Lakshmanan R, Kinsella JA, Uzun GA, Karbay M, Tüfekçioglu Z, Hanagasi H, Burke G, Foulds N, Hammans SR, Bhattacharjee A, Wilson H, Adams M, Walker M, Nicoll JA, Chataway J, Fox N, Davagnanam I, Phadke R, Houlden H.

JAMA Neurol. 2016 Dec 1;73(12):1433-1439. doi: 10.1001/jamaneurol.2016.2229.

PMID:
27749956
19.

Late-onset Lafora disease with prominent parkinsonism due to a rare mutation in EPM2A.

Lynch DS, Wood NW, Houlden H.

Neurol Genet. 2016 Aug 16;2(5):e101. doi: 10.1212/NXG.0000000000000101. eCollection 2016 Oct.

20.

Genetic and phenotypic characterization of complex hereditary spastic paraplegia.

Kara E, Tucci A, Manzoni C, Lynch DS, Elpidorou M, Bettencourt C, Chelban V, Manole A, Hamed SA, Haridy NA, Federoff M, Preza E, Hughes D, Pittman A, Jaunmuktane Z, Brandner S, Xiromerisiou G, Wiethoff S, Schottlaender L, Proukakis C, Morris H, Warner T, Bhatia KP, Korlipara LV, Singleton AB, Hardy J, Wood NW, Lewis PA, Houlden H.

Brain. 2016 Jul;139(Pt 7):1904-18. doi: 10.1093/brain/aww111. Epub 2016 May 23.

21.

De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions.

Mencacci NE, Kamsteeg EJ, Nakashima K, R'Bibo L, Lynch DS, Balint B, Willemsen MA, Adams ME, Wiethoff S, Suzuki K, Davies CH, Ng J, Meyer E, Veneziano L, Giunti P, Hughes D, Raymond FL, Carecchio M, Zorzi G, Nardocci N, Barzaghi C, Garavaglia B, Salpietro V, Hardy J, Pittman AM, Houlden H, Kurian MA, Kimura H, Vissers LE, Wood NW, Bhatia KP.

Am J Hum Genet. 2016 Apr 7;98(4):763-71. doi: 10.1016/j.ajhg.2016.02.015.

22.

Triple trouble: a striking new phenotype or competing genes in a family with hereditary spastic paraplegia.

Chelban V, Lynch DS, Houlden H, Wood N.

J Neurol. 2016 Jun;263(6):1232-3. doi: 10.1007/s00415-016-8103-6. Epub 2016 Mar 30. No abstract available.

PMID:
27025852
23.

Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing.

Lynch DS, Koutsis G, Tucci A, Panas M, Baklou M, Breza M, Karadima G, Houlden H.

Eur J Hum Genet. 2016 Jun;24(6):857-63. doi: 10.1038/ejhg.2015.200. Epub 2015 Sep 16.

24.

Novel Kidins220/ARMS Splice Isoforms: Potential Specific Regulators of Neuronal and Cardiovascular Development.

Schmieg N, Thomas C, Yabe A, Lynch DS, Iglesias T, Chakravarty P, Schiavo G.

PLoS One. 2015 Jun 17;10(6):e0129944. doi: 10.1371/journal.pone.0129944. eCollection 2015.

25.

A novel ABCD1 mutation detected by next generation sequencing in presumed hereditary spastic paraplegia: A 30-year diagnostic delay caused by misleading biochemical findings.

Koutsis G, Lynch DS, Tucci A, Houlden H, Karadima G, Panas M.

J Neurol Sci. 2015 Aug 15;355(1-2):199-201. doi: 10.1016/j.jns.2015.05.031. Epub 2015 May 29.

PMID:
26049658
26.

Hereditary leukoencephalopathy with axonal spheroids: a spectrum of phenotypes from CNS vasculitis to parkinsonism in an adult onset leukodystrophy series.

Lynch DS, Jaunmuktane Z, Sheerin UM, Phadke R, Brandner S, Milonas I, Dean A, Bajaj N, McNicholas N, Costello D, Cronin S, McGuigan C, Rossor M, Fox N, Murphy E, Chataway J, Houlden H.

J Neurol Neurosurg Psychiatry. 2016 May;87(5):512-9. doi: 10.1136/jnnp-2015-310788. Epub 2015 May 2.

27.
28.

Angiogenin levels and ANG genotypes: dysregulation in amyotrophic lateral sclerosis.

McLaughlin RL, Phukan J, McCormack W, Lynch DS, Greenway M, Cronin S, Saunders J, Slowik A, Tomik B, Andersen PM, Bradley DG, Jakeman P, Hardiman O.

PLoS One. 2010 Nov 10;5(11):e15402. doi: 10.1371/journal.pone.0015402.

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