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Items: 1 to 50 of 428

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.

Hereditary spastic paraplegia: from diagnosis to emerging therapeutic approaches.

Shribman S, Reid E, Crosby AH, Houlden H, Warner TT.

Lancet Neurol. 2019 Jul 31. pii: S1474-4422(19)30235-2. doi: 10.1016/S1474-4422(19)30235-2. [Epub ahead of print] Review.

PMID:
31377012
3.

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.

Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Männikkö R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Peñas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A; SYNAPS Study Group, Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM, Houlden H.

Nat Commun. 2019 Jul 12;10(1):3094. doi: 10.1038/s41467-019-10910-w.

4.

Utility of Whole Blood Thiamine Pyrophosphate Evaluation in TPK1-Related Diseases.

Bugiardini E, Pope S, Feichtinger RG, Poole OV, Pittman AM, Woodward CE, Heales S, Quinlivan R, Houlden H, Mayr JA, Hanna MG, Pitceathly RDS.

J Clin Med. 2019 Jul 8;8(7). pii: E991. doi: 10.3390/jcm8070991.

5.

PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation.

Chelban V, Wilson MP, Warman Chardon J, Vandrovcova J, Zanetti MN, Zamba-Papanicolaou E, Efthymiou S, Pope S, Conte MR, Abis G, Liu YT, Tribollet E, Haridy NA, Botía JA, Ryten M, Nicolaou P, Minaidou A, Christodoulou K, Kernohan KD, Eaton A, Osmond M, Ito Y, Bourque P, Jepson JEC, Bello O, Bremner F, Cordivari C, Reilly MM, Foiani M, Heslegrave A, Zetterberg H, Heales SJR, Wood NW, Rothman JE, Boycott KM, Mills PB, Clayton PT, Houlden H; Care4Rare Canada Consortium and the SYNaPS Study Group.

Ann Neurol. 2019 Aug;86(2):225-240. doi: 10.1002/ana.25524. Epub 2019 Jul 1.

PMID:
31187503
6.

Germline selection shapes human mitochondrial DNA diversity.

Wei W, Tuna S, Keogh MJ, Smith KR, Aitman TJ, Beales PL, Bennett DL, Gale DP, Bitner-Glindzicz MAK, Black GC, Brennan P, Elliott P, Flinter FA, Floto RA, Houlden H, Irving M, Koziell A, Maher ER, Markus HS, Morrell NW, Newman WG, Roberts I, Sayer JA, Smith KGC, Taylor JC, Watkins H, Webster AR, Wilkie AOM, Williamson C; NIHR BioResource–Rare Diseases; 100,000 Genomes Project–Rare Diseases Pilot, Ashford S, Penkett CJ, Stirrups KE, Rendon A, Ouwehand WH, Bradley JR, Raymond FL, Caulfield M, Turro E, Chinnery PF.

Science. 2019 May 24;364(6442). pii: eaau6520. doi: 10.1126/science.aau6520. Epub 2019 May 23.

7.

Autosomal dominant optic atrophy and cataract "plus" phenotype including axonal neuropathy.

Horga A, Bugiardini E, Manole A, Bremner F, Jaunmuktane Z, Dankwa L, Rebelo AP, Woodward CE, Hargreaves IP, Cortese A, Pittman AM, Brandner S, Polke JM, Pitceathly RDS, Züchner S, Hanna MG, Scherer SS, Houlden H, Reilly MM.

Neurol Genet. 2019 Apr 1;5(2):e322. doi: 10.1212/NXG.0000000000000322. eCollection 2019 Apr.

8.

Continuum of phenotypes in hereditary motor and sensory neuropathy with proximal predominance and Charcot-Marie-Tooth patients with TFG mutation.

Khani M, Taheri H, Shamshiri H, Houlden H, Efthymiou S, Alavi A, Nafissi S, Elahi E.

Am J Med Genet A. 2019 Aug;179(8):1507-1515. doi: 10.1002/ajmg.a.61184. Epub 2019 May 20.

PMID:
31111683
9.

Are some C19orf12 variants monoallelic for neurological disorders?

Tariq H, Butt JUR, Houlden H, Naz S.

Parkinsonism Relat Disord. 2019 May 13. pii: S1353-8020(19)30240-8. doi: 10.1016/j.parkreldis.2019.05.020. [Epub ahead of print] No abstract available.

PMID:
31105013
10.

Biotin-Thiamine Responsive Encephalopathy: Report of an Egyptian Family with a Novel SLC19A3 Mutation and Review of the Literature.

Savasta S, Bassanese F, Buschini C, Foiadelli T, Trabatti C, Efthymiou S, Salpietro V, Houlden H, Simoncelli A, Marseglia GL.

J Pediatr Genet. 2019 Jun;8(2):100-108. doi: 10.1055/s-0038-1676603. Epub 2018 Dec 18.

PMID:
31061755
11.

MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy.

Bugiardini E, Mitchell AL, Rosa ID, Horning-Do HT, Pitmann AM, Poole OV, Holton JL, Shah S, Woodward C, Hargreaves I, Quinlivan R, Amunts A, Wiesner RJ, Houlden H, Holt IJ, Hanna MG, Pitceathly RDS, Spinazzola A.

Hum Mol Genet. 2019 Aug 15;28(16):2711-2719. doi: 10.1093/hmg/ddz093.

12.

Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.

Bell S, Rousseau J, Peng H, Aouabed Z, Priam P, Theroux JF, Jefri M, Tanti A, Wu H, Kolobova I, Silviera H, Manzano-Vargas K, Ehresmann S, Hamdan FF, Hettige N, Zhang X, Antonyan L, Nassif C, Ghaloul-Gonzalez L, Sebastian J, Vockley J, Begtrup AG, Wentzensen IM, Crunk A, Nicholls RD, Herman KC, Deignan JL, Al-Hertani W, Efthymiou S, Salpietro V, Miyake N, Makita Y, Matsumoto N, Østern R, Houge G, Hafström M, Fassi E, Houlden H, Klein Wassink-Ruiter JS, Nelson D, Goldstein A, Dabir T, van Gils J, Bourgeron T, Delorme R, Cooper GM, Martinez JE, Finnila CR, Carmant L, Lortie A, Oegema R, van Gassen K, Mehta SG, Huhle D, Abou Jamra R, Martin S, Brunner HG, Lindhout D, Au M, Graham JM Jr, Coubes C, Turecki G, Gravel S, Mechawar N, Rossignol E, Michaud JL, Lessard J, Ernst C, Campeau PM.

Am J Hum Genet. 2019 May 2;104(5):815-834. doi: 10.1016/j.ajhg.2019.03.022. Epub 2019 Apr 25.

PMID:
31031012
13.

Author Correction: Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia.

Cortese A, Simone R, Sullivan R, Vandrovcova J, Tariq H, Yau WY, Humphrey J, Jaunmuktane Z, Sivakumar P, Polke J, Ilyas M, Tribollet E, Tomaselli PJ, Devigili G, Callegari I, Versino M, Salpietro V, Efthymiou S, Kaski D, Wood NW, Andrade NS, Buglo E, Rebelo A, Rossor AM, Bronstein A, Fratta P, Marques WJ, Züchner S, Reilly MM, Houlden H.

Nat Genet. 2019 May;51(5):920. doi: 10.1038/s41588-019-0422-y.

PMID:
31028356
14.

Cerebral mitochondrial electron transport chain dysfunction in multiple system atrophy and Parkinson's disease.

Foti SC, Hargreaves I, Carrington S, Kiely AP, Houlden H, Holton JL.

Sci Rep. 2019 Apr 25;9(1):6559. doi: 10.1038/s41598-019-42902-7.

15.

Development of MRC Centre MRI calf muscle fat fraction protocol as a sensitive outcome measure in Hereditary Sensory Neuropathy Type 1.

Kugathasan U, Evans MRB, Morrow JM, Sinclair CDJ, Thornton JS, Yousry TA, Hornemann T, Suriyanarayanan S, Owusu-Ansah K, Lauria G, Lombardi R, Polke JM, Wilson E, Bennett DLH, Houlden H, Hanna MG, Blake JC, Laura M, Reilly MM.

J Neurol Neurosurg Psychiatry. 2019 Aug;90(8):895-906. doi: 10.1136/jnnp-2018-320198. Epub 2019 Apr 17.

PMID:
30995999
16.

Microdeletion in a FAAH pseudogene identified in a patient with high anandamide concentrations and pain insensitivity.

Habib AM, Okorokov AL, Hill MN, Bras JT, Lee MC, Li S, Gossage SJ, van Drimmelen M, Morena M, Houlden H, Ramirez JD, Bennett DLH, Srivastava D, Cox JJ.

Br J Anaesth. 2019 Aug;123(2):e249-e253. doi: 10.1016/j.bja.2019.02.019. Epub 2019 Mar 28.

17.

Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment.

Salpietro V, Malintan NT, Llano-Rivas I, Spaeth CG, Efthymiou S, Striano P, Vandrovcova J, Cutrupi MC, Chimenz R, David E, Di Rosa G, Marce-Grau A, Raspall-Chaure M, Martin-Hernandez E, Zara F, Minetti C; Deciphering Developmental Disorders Study; SYNAPS Study Group, Bello OD, De Zorzi R, Fortuna S, Dauber A, Alkhawaja M, Sultan T, Mankad K, Vitobello A, Thomas Q, Mau-Them FT, Faivre L, Martinez-Azorin F, Prada CE, Macaya A, Kullmann DM, Rothman JE, Krishnakumar SS, Houlden H.

Am J Hum Genet. 2019 Apr 4;104(4):721-730. doi: 10.1016/j.ajhg.2019.02.016. Epub 2019 Mar 28.

18.

Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia.

Cortese A, Simone R, Sullivan R, Vandrovcova J, Tariq H, Yau WY, Humphrey J, Jaunmuktane Z, Sivakumar P, Polke J, Ilyas M, Tribollet E, Tomaselli PJ, Devigili G, Callegari I, Versino M, Salpietro V, Efthymiou S, Kaski D, Wood NW, Andrade NS, Buglo E, Rebelo A, Rossor AM, Bronstein A, Fratta P, Marques WJ, Züchner S, Reilly MM, Houlden H.

Nat Genet. 2019 Apr;51(4):649-658. doi: 10.1038/s41588-019-0372-4. Epub 2019 Mar 29. Erratum in: Nat Genet. 2019 May;51(5):920.

PMID:
30926972
19.

Proximity extension assay testing reveals novel diagnostic biomarkers of atypical parkinsonian syndromes.

Jabbari E, Woodside J, Guo T, Magdalinou NK, Chelban V, Athauda D, Lees AJ, Foltynie T, Houlden H, Church A, Hu MT, Rowe JB, Zetterberg H, Morris HR.

J Neurol Neurosurg Psychiatry. 2019 Jul;90(7):768-773. doi: 10.1136/jnnp-2018-320151. Epub 2019 Mar 13.

20.

Assessment of APOE in atypical parkinsonism syndromes.

Sabir MS, Blauwendraat C, Ahmed S, Serrano GE, Beach TG, Perkins M, Rice AC, Masliah E, Morris CM, Pihlstrom L, Pantelyat A, Resnick SM, Cookson MR, Hernandez DG, Albert M, Dawson TM, Rosenthal LS, Houlden H, Pletnikova O, Troncoso J, Scholz SW.

Neurobiol Dis. 2019 Jul;127:142-146. doi: 10.1016/j.nbd.2019.02.016. Epub 2019 Feb 21.

PMID:
30798004
21.

An update on the genetics, clinical presentation, and pathomechanisms of human riboflavin transporter deficiency.

O'Callaghan B, Bosch AM, Houlden H.

J Inherit Metab Dis. 2019 Jul;42(4):598-607. doi: 10.1002/jimd.12053. Epub 2019 Feb 21. Review.

PMID:
30793323
22.

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.

23.

C9orf72 and its Relevance in Parkinsonism and Movement Disorders: A Comprehensive Review of the Literature.

Bourinaris T, Houlden H.

Mov Disord Clin Pract. 2018 Nov 8;5(6):575-585. doi: 10.1002/mdc3.12677. eCollection 2018 Nov-Dec. Review.

PMID:
30637277
24.

Early onset cerebral amyloid angiopathy following childhood exposure to cadaveric dura.

Banerjee G, Adams ME, Jaunmuktane Z, Alistair Lammie G, Turner B, Wani M, Sawhney IMS, Houlden H, Mead S, Brandner S, Werring DJ.

Ann Neurol. 2019 Feb;85(2):284-290. doi: 10.1002/ana.25407. Epub 2019 Jan 17.

25.

Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17.

Nethisinghe S, Lim WN, Ging H, Zeitlberger A, Abeti R, Pemble S, Sweeney MG, Labrum R, Cervera C, Houlden H, Rosser E, Limousin P, Kennedy A, Lunn MP, Bhatia KP, Wood NW, Hardy J, Polke JM, Veneziano L, Brusco A, Davis MB, Giunti P.

Front Cell Neurosci. 2018 Nov 23;12:429. doi: 10.3389/fncel.2018.00429. eCollection 2018.

26.

Leucine rich repeat kinase 2 (LRRK2) GLY2019SER mutation is absent in a second cohort of Nigerian Africans with Parkinson disease.

Okubadejo NU, Rizig M, Ojo OO, Jonvik H, Oshinaike O, Brown E, Houlden H.

PLoS One. 2018 Dec 3;13(12):e0207984. doi: 10.1371/journal.pone.0207984. eCollection 2018.

27.

LRP10 in α-synucleinopathies.

Pihlstrøm L, Schottlaender L, Chelban V, Houlden H; MSA Exome Consortium.

Lancet Neurol. 2018 Dec;17(12):1033-1034. doi: 10.1016/S1474-4422(18)30407-1. Epub 2018 Nov 13. No abstract available.

PMID:
30507385
28.

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.

29.

An update on advances in magnetic resonance imaging of multiple system atrophy.

Chelban V, Bocchetta M, Hassanein S, Haridy NA, Houlden H, Rohrer JD.

J Neurol. 2019 Apr;266(4):1036-1045. doi: 10.1007/s00415-018-9121-3. Epub 2018 Nov 20. Review.

30.

Early versus late anticoagulation for ischaemic stroke associated with atrial fibrillation: multicentre cohort study.

Wilson D, Ambler G, Banerjee G, Shakeshaft C, Cohen H, Yousry TA, Al-Shahi Salman R, Lip GYH, Houlden H, Brown MM, Muir KW, Jäger HR, Werring DJ; Clinical relevance of Microbleeds in Stroke (CROMIS-2) collaborators.

J Neurol Neurosurg Psychiatry. 2019 Mar;90(3):320-325. doi: 10.1136/jnnp-2018-318890. Epub 2018 Nov 19.

31.

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.

32.

IGHMBP2 mutation associated with organ-specific autonomic dysfunction.

Tomaselli PJ, Horga A, Rossor AM, Jaunmuktane Z, Cortese A, Blake JC, Zarate-Lopez N, Houlden H, Reilly MM.

Neuromuscul Disord. 2018 Dec;28(12):1012-1015. doi: 10.1016/j.nmd.2018.08.010. Epub 2018 Aug 29.

33.

Electroclinical history of a five-year-old girl with GRIN1-related early-onset epileptic encephalopathy: a video-case study.

Pironti E, Granata F, Cucinotta F, Gagliano A, Efthymiou S, Houlden H, Salpietro V, Di Rosa G.

Epileptic Disord. 2018 Oct 1;20(5):423-427. doi: 10.1684/epd.2018.0992.

PMID:
30355546
34.

PDE10A and ADCY5 mutations linked to molecular and microstructural basal ganglia pathology.

Niccolini F, Mencacci NE, Yousaf T, Rabiner EA, Salpietro V, Pagano G, Balint B, Efthymiou S, Houlden H, Gunn RN, Wood N, Bhatia KP, Politis M.

Mov Disord. 2018 Dec;33(12):1961-1965. doi: 10.1002/mds.27523. Epub 2018 Oct 21.

PMID:
30345538
35.

NKX6-2-Related Disorder.

Chelban V, Kaya N, Alkuraya F, Houlden H.

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.
2018 Oct 4.

36.

Spinocerebellar ataxia: an update.

Sullivan R, Yau WY, O'Connor E, Houlden H.

J Neurol. 2019 Feb;266(2):533-544. doi: 10.1007/s00415-018-9076-4. Epub 2018 Oct 3. Review.

37.

Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series.

Koriath C, Kenny J, Adamson G, Druyeh R, Taylor W, Beck J, Quinn L, Mok TH, Dimitriadis A, Norsworthy P, Bass N, Carter J, Walker Z, Kipps C, Coulthard E, Polke JM, Bernal-Quiros M, Denning N, Thomas R, Raybould R, Williams J, Mummery CJ, Wild EJ, Houlden H, Tabrizi SJ, Rossor MN, Hummerich H, Warren JD, Rowe JB, Rohrer JD, Schott JM, Fox NC, Collinge J, Mead S.

Mol Psychiatry. 2018 Oct 2. doi: 10.1038/s41380-018-0224-0. [Epub ahead of print]

38.

A Review of Copy Number Variants in Inherited Neuropathies.

Salpietro V, Manole A, Efthymiou S, Houlden H.

Curr Genomics. 2018 Sep;19(6):412-419. doi: 10.2174/1389202919666180330153316. Review.

39.

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
40.

Human Induced Pluripotent Stem Cell-Derived Microglia-Like Cells Harboring TREM2 Missense Mutations Show Specific Deficits in Phagocytosis.

Garcia-Reitboeck P, Phillips A, Piers TM, Villegas-Llerena C, Butler M, Mallach A, Rodrigues C, Arber CE, Heslegrave A, Zetterberg H, Neumann H, Neame S, Houlden H, Hardy J, Pocock JM.

Cell Rep. 2018 Aug 28;24(9):2300-2311. doi: 10.1016/j.celrep.2018.07.094.

41.

Paroxysmal Movement Disorder and Epilepsy Caused by a De Novo Truncating Mutation in KAT6A.

Efthymiou S, Salpietro V, Bettencourt C, Houlden H.

J Pediatr Genet. 2018 Sep;7(3):114-116. doi: 10.1055/s-0038-1651526. Epub 2018 Jun 14.

PMID:
30105118
42.

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.

43.

LETM1 couples mitochondrial DNA metabolism and nutrient preference.

Durigon R, Mitchell AL, Jones AW, Manole A, Mennuni M, Hirst EM, Houlden H, Maragni G, Lattante S, Doronzio PN, Dalla Rosa I, Zollino M, Holt IJ, Spinazzola A.

EMBO Mol Med. 2018 Sep;10(9). pii: e8550. doi: 10.15252/emmm.201708550.

44.

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.

45.

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.

46.

A novel SLC1A4 homozygous mutation causing congenital microcephaly, epileptic encephalopathy and spastic tetraparesis: a video-EEG and tractography - case study.

Pironti E, Salpietro V, Cucinotta F, Granata F, Mormina E, Efthymiou S, Scuderi C, Gagliano A, Houlden H, Di Rosa G.

J Neurogenet. 2018 Dec;32(4):316-321. doi: 10.1080/01677063.2018.1476510. Epub 2018 Jul 10.

PMID:
29989513
47.

Quick Flicks: Association of Paroxysmal Kinesigenic Dyskinesia and Tics.

Balint B, Wiethoff S, Martino D, Del Gamba C, Latorre A, Ganos C, Houlden H, Bhatia KP.

Mov Disord Clin Pract. 2018 Apr 17;5(3):317-320. doi: 10.1002/mdc3.12615. eCollection 2018 May-Jun.

48.

Kleine-Levin syndrome is associated with LMOD3 variants.

Al Shareef SM, Basit S, Li S, Pfister C, Pradervand S, Lecendreux M, Mayer G, Dauvilliers Y, Salpietro V, Houlden H, BaHammam AS, Tafti M.

J Sleep Res. 2019 Jun;28(3):e12718. doi: 10.1111/jsr.12718. Epub 2018 Jun 19.

PMID:
29923248
49.

Somatic copy number gains of α-synuclein (SNCA) in Parkinson's disease and multiple system atrophy brains.

Mokretar K, Pease D, Taanman JW, Soenmez A, Ejaz A, Lashley T, Ling H, Gentleman S, Houlden H, Holton JL, Schapira AHV, Nacheva E, Proukakis C.

Brain. 2018 Aug 1;141(8):2419-2431. doi: 10.1093/brain/awy157.

50.

Correction to: Impaired Bioenergetics in Mutant Mitochondrial DNA Determines Cell Fate during Seizure-Like Activity.

Kovac S, Preza E, Houlden H, Walker MC, Abramov AY.

Mol Neurobiol. 2019 Jan;56(1):335. doi: 10.1007/s12035-018-1110-0.

PMID:
29779174

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