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Items: 1 to 50 of 440

1.

Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Due to MTMR2 Mutations and Implications in Membrane Trafficking.

Wang H, Kaçar Bayram A, Sprute R, Ozdemir O, Cooper E, Pergande M, Efthymiou S, Nedic I, Mazaheri N, Stumpfe K, Azizi Malamiri R, Shariati G, Zeighami J, Bayram N, Naghibzadeh SK, Tajik M, Yaşar M, Sami Güven A, Bibi F, Sultan T, Salpietro V, Houlden H, Per H, Galehdari H, Shalbafan B, Jamshidi Y, Cirak S.

Front Neurosci. 2019 Oct 14;13:974. doi: 10.3389/fnins.2019.00974. eCollection 2019.

2.

Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair.

Horga A, Woodward CE, Mills A, Pareés I, Hargreaves IP, Brown RM, Bugiardini E, Brooks T, Manole A, Remzova E, Rahman S, Reilly MM, Houlden H, Sweeney MG, Brown GK, Polke JM, Gago F, Parton MJ, Pitceathly RDS, Hanna MG.

Hum Genet. 2019 Oct 31. doi: 10.1007/s00439-019-02075-9. [Epub ahead of print]

PMID:
31673819
3.

ARSA variants in α-synucleinopathies.

Makarious MB, Diez-Fairen M, Krohn L, Blauwendraat C, Bandres-Ciga S, Ding J, Pihlstrøm L, Houlden H, Scholz SW, Gan-Or Z.

Brain. 2019 Oct 31. pii: awz340. doi: 10.1093/brain/awz340. [Epub ahead of print] No abstract available.

PMID:
31670782
4.

Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder.

Dias CM, Punetha J, Zheng C, Mazaheri N, Rad A, Efthymiou S, Petersen A, Dehghani M, Pehlivan D, Partlow JN, Posey JE, Salpietro V, Gezdirici A, Malamiri RA, Al Menabawy NM, Selim LA, Vahidi Mehrjardi MY, Banu S, Polla DL, Yang E, Rezazadeh Varaghchi J, Mitani T, van Beusekom E, Najafi M, Sedaghat A, Keller-Ramey J, Durham L, Coban-Akdemir Z, Karaca E, Orlova V, Schaeken LLM, Sherafat A, Jhangiani SN, Stanley V, Shariati G, Galehdari H, Gleeson JG, Walsh CA, Lupski JR, Seiradake E, Houlden H, van Bokhoven H, Maroofian R.

Am J Hum Genet. 2019 Nov 7;105(5):1048-1056. doi: 10.1016/j.ajhg.2019.09.025. Epub 2019 Oct 24.

5.

Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay.

Lee S, Chen DY, Zaki MS, Maroofian R, Houlden H, Di Donato N, Abdin D, Morsy H, Mirzaa GM, Dobyns WB, McEvoy-Venneri J, Stanley V, James KN, Mancini GMS, Schot R, Kalayci T, Altunoglu U, Karimiani EG, Brick L, Kozenko M, Jamshidi Y, Manzini MC, Beiraghi Toosi M, Gleeson JG.

Am J Hum Genet. 2019 Oct 3;105(4):844-853. doi: 10.1016/j.ajhg.2019.08.013.

PMID:
31585108
6.

C9orf72 and intracerebral hemorrhage.

Hostettler IC, Bernal-Quiros M, Wong A, Sharma N, Wilson D, Seiffge DJ, Shakeshaft C, Jäger HR, Cohen H, Yousry T, Al-Shahi Salman R, Lip GYH, Brown MM, Muir KW, Werring DJ, Houlden H; CROMIS-2 collaborators.

Neurobiol Aging. 2019 Jul 18. pii: S0197-4580(19)30209-X. doi: 10.1016/j.neurobiolaging.2019.07.007. [Epub ahead of print]

PMID:
31582231
7.

Genetic and phenotypic characterisation of inherited myopathies in a tertiary neuromuscular centre.

Bugiardini E, Khan AM, Phadke R, Lynch DS, Cortese A, Feng L, Gang Q, Pittman AM, Morrow JM, Turner C, Carr AS, Quinlivan R, Rossor AM, Holton JL, Parton M, Blake JC, Reilly MM, Houlden H, Matthews E, Hanna MG.

Neuromuscul Disord. 2019 Oct;29(10):747-757. doi: 10.1016/j.nmd.2019.08.003. Epub 2019 Aug 19.

PMID:
31561939
8.

Automated Brainstem Segmentation Detects Differential Involvement in Atypical Parkinsonian Syndromes.

Bocchetta M, Iglesias JE, Chelban V, Jabbari E, Lamb R, Russell LL, Greaves CV, Neason M, Cash DM, Thomas DL, Warren JD, Woodside J, Houlden H, Morris HR, Rohrer JD.

J Mov Disord. 2019 Sep 26. doi: 10.14802/jmd.19030. [Epub ahead of print]

9.

Genetic and phenotypic characterization of NKX6-2-related spastic ataxia and hypomyelination.

Chelban V, Alsagob M, Kloth K, Chirita-Emandi A, Vandrovcova J, Maroofian R, Davagnanam I, Bakhtiari S, AlSayed MD, Rahbeeni Z, AlZaidan H, Malintan NT, Johannsen J, Efthymiou S, Ghayoor Karimiani E, Mankad K, Al-Shahrani SA, Beiraghi Toosi M, AlShammari M, Groppa S, Haridy NA, AlQuait L, Qari A, Huma R, Salih MA, Almass R, Almutairi FB, Hamad MH, Alorainy IA, Ramzan K, Imtiaz F, Puiu M, Kruer MC, Bierhals T, Wood NW, Colak D, Houlden H, Kaya N.

Eur J Neurol. 2019 Sep 11. doi: 10.1111/ene.14082. [Epub ahead of print]

PMID:
31509304
10.

Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination.

Efthymiou S, Salpietro V, Malintan N, Poncelet M, Kriouile Y, Fortuna S, De Zorzi R, Payne K, Henderson LB, Cortese A, Maddirevula S, Alhashmi N, Wiethoff S, Ryten M, Botia JA, Provitera V, Schuelke M, Vandrovcova J; SYNAPS Study Group , Walsh L, Torti E, Iodice V, Najafi M, Karimiani EG, Maroofian R, Siquier-Pernet K, Boddaert N, De Lonlay P, Cantagrel V, Aguennouz M, El Khorassani M, Schmidts M, Alkuraya FS, Edvardson S, Nolano M, Devaux J, Houlden H.

Brain. 2019 Oct 1;142(10):2948-2964. doi: 10.1093/brain/awz248.

11.

Parkinson's Disease in Central Asian and Transcaucasian Countries: A Review of Epidemiology, Genetics, Clinical Characteristics, and Access to Care.

Kaiyrzhanov R, Rizig M, Aitkulova A, Zharkinbekova N, Shashkin C, Kaishibayeva G, Karimova A, Khaibullin T, Sadykova D, Ganieva M, Rasulova K, Houlden H.

Parkinsons Dis. 2019 Aug 8;2019:2905739. doi: 10.1155/2019/2905739. eCollection 2019. Review.

12.

A novel homozygous FBXO38 variant causes an early-onset distal hereditary motor neuronopathy type IID.

Akçimen F, Vural A, Durmuş H, Çakar A, Houlden H, Parman YG, Nazlı Başak A.

J Hum Genet. 2019 Nov;64(11):1141-1144. doi: 10.1038/s10038-019-0652-y. Epub 2019 Aug 17.

PMID:
31420593
13.

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
14.

Hereditary spastic paraplegia: from diagnosis to emerging therapeutic approaches.

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

Lancet Neurol. 2019 Dec;18(12):1136-1146. doi: 10.1016/S1474-4422(19)30235-2. Epub 2019 Jul 31. Review.

PMID:
31377012
15.

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.

16.

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.

17.

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.

18.

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.

19.

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.

20.

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
21.

Are some C19orf12 variants monoallelic for neurological disorders?

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

Parkinsonism Relat Disord. 2019 Aug;65:267-269. doi: 10.1016/j.parkreldis.2019.05.020. Epub 2019 May 13. No abstract available.

PMID:
31105013
22.

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
23.

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.

24.

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.

25.

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.

26.

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.

27.

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
28.

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.

29.

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.

30.

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.

31.

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.

32.

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
33.

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
34.

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.

35.

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.

36.

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.

37.

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.

38.

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.

39.

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
40.

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.

41.

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.

42.

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.

43.

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.

44.

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.

45.

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.

46.

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
47.

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.

48.

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.

49.

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

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