Works matching AU Houlden, H.

Results: 27

Review: Insights into molecular mechanisms of disease in neurodegeneration with brain iron accumulation: unifying theories.

Published in:

Neuropathology & Applied Neurobiology, 2016, v. 42, n. 3, p. 220, doi. 10.1111/nan.12242

By:

Arber, C. E.;
Li, A.;
Houlden, H.;
Wray, S.

Publication type:

Article

Pantothenate kinase-associated neurodegeneration is not a synucleinopathy.

Published in:

Neuropathology & Applied Neurobiology, 2013, v. 39, n. 2, p. 121, doi. 10.1111/j.1365-2990.2012.01269.x

By:

Li, A.;
Paudel, R.;
Johnson, R.;
Courtney, R.;
Lees, A. J.;
Holton, J. L.;
Hardy, J.;
Revesz, T.;
Houlden, H.

Publication type:

Article

Review: Genetics and neuropathology of primary pure dystonia.

Published in:

Neuropathology & Applied Neurobiology, 2012, v. 38, n. 6, p. 520, doi. 10.1111/j.1365-2990.2012.01298.x

By:

Paudel, R.;
Hardy, J.;
Revesz, T.;
Holton, J. L.;
Houlden, H.

Publication type:

Article

The neuropathology, pathophysiology and genetics of multiple system atrophy.

Published in:

Neuropathology & Applied Neurobiology, 2012, v. 38, n. 1, p. 4, doi. 10.1111/j.1365-2990.2011.01234.x

By:

Ahmed, Z.;
Asi, Y. T.;
Sailer, A.;
Lees, A. J.;
Houlden, H.;
Revesz, T.;
Holton, J. L.

Publication type:

Article

A Huntington's disease phenocopy characterized by pallido-nigro-luysian degeneration with brain iron accumulation and p62-positive glial inclusions.

Published in:

2010

By:

Ahmed, Z.;
Tabrizi, S. J.;
Li, A.;
Houlden, H.;
Sailer, A.;
Lees, A. J.;
Revesz, T.;
Holton, J. L.

Publication type:

Other

Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11).

Published in:

European Journal of Neurology, 2008, v. 15, n. 10, p. 1065, doi. 10.1111/j.1468-1331.2008.02247.x

By:

Paisan-Ruiz, C.;
Nath, P.;
Wood, N. W.;
Singleton, A.;
Houlden, H.

Publication type:

Article

Young-onset parkinsonism due to homozygous duplication of α-synuclein in a consanguineous family.

Published in:

2012

By:

Kojovic M;
Sheerin UM;
Rubio-Agusti I;
Saha A;
Bras J;
Gibbons V;
Palmer R;
Houlden H;
Hardy J;
Wood NW;
Bhatia KP;
Kojovic, Maja;
Sheerin, Una-Marie;
Rubio-Agusti, Ignacio;
Saha, Anirban;
Bras, Jose;
Gibbons, Vaneesha;
Palmer, Rodger;
Houlden, Henry;
Hardy, John

Publication type:

Case Study

Clinical features, with video documentation, of the original familial lewy body parkinsonism caused by α-synuclein triplication (Iowa kindred).

Published in:

2011

By:

Gwinn K;
Devine MJ;
Jin LW;
Johnson J;
Bird T;
Muenter M;
Waters C;
Adler CH;
Caselli R;
Houlden H;
Lopez G;
Singleton A;
Hardy J;
Gwinn, Katrina;
Devine, Michael J;
Jin, Lee-Way;
Johnson, Janel;
Bird, Thomas;
Muenter, Manfred;
Waters, Cheryl

Publication type:

Case Study

Pupil abnormalities in 131 cases of genetically defined inherited peripheral neuropathy.

Published in:

Eye (0950-222X), 2009, v. 23, n. 4, p. 966, doi. 10.1038/eye.2008.221

By:

Houlden, H.;
Reilly, M. M.;
Smith, S.

Publication type:

Article

What are the experiences of adults returning to work following recovery from Guillain-Barré syndrome? An interpretative phenomenological analysis.

Published in:

2009

By:

Royal E;
Reynolds FA;
Houlden H

Publication type:

Journal Article

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

Published in:

2018

By:

Melo, U.S.;
Freua, F.;
Lynch, D.S.;
Ripa, B.D.;
Tenorio, R.B.;
Saute, J.A.M.;
de Souza Leite, F.;
Kitajima, J.;
Houlden, H.;
Zatz, M.;
Kok, F.

Publication type:

Case Study

Mutational analysis of PMP22, EGR2, LITAF and NEFL in Greek Charcot-Marie-Tooth type 1 patients.

Published in:

Clinical Genetics, 2013, v. 83, n. 4, p. 388, doi. 10.1111/j.1399-0004.2012.01910.x

By:

Koutsis, G;
Pandraud, A;
Karadima, G;
Panas, M;
Reilly, MM;
Floroskufi, P;
Wood, NW;
Houlden, H

Publication type:

Article

β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation.

Published in:

2013

By:

Hayflick, Susan J;
Kruer, Michael C;
Gregory, Allison;
Haack, Tobias B;
Kurian, Manju A;
Houlden, Henry H;
Anderson, James;
Boddaert, Nathalie;
Sanford, Lynn;
Harik, Sami I;
Dandu, Vasuki H;
Nardocci, Nardo;
Zorzi, Giovanna;
Dunaway, Todd;
Tarnopolsky, Mark;
Skinner, Steven;
Holden, Kenton R;
Frucht, Steven;
Hanspal, Era;
Schrander-Stumpel, Connie

Publication type:

journal article

Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation.

Published in:

Brain: A Journal of Neurology, 2013, v. 136, n. 6, p. 1708, doi. 10.1093/brain/awt095

By:

Hayflick, Susan J.;
Kruer, Michael C.;
Gregory, Allison;
Haack, Tobias B.;
Kurian, Manju A.;
Houlden, Henry H.;
Anderson, James;
Boddaert, Nathalie;
Sanford, Lynn;
Harik, Sami I.;
Dandu, Vasuki H.;
Nardocci, Nardo;
Zorzi, Giovanna;
Dunaway, Todd;
Tarnopolsky, Mark;
Skinner, Steven;
Holden, Kenton R.;
Frucht, Steven;
Hanspal, Era;
Schrander-Stumpel, Connie

Publication type:

Article

Novel peripheral myelin protein 22 (PMP22) micromutations associated with variable phenotypes in Greek patients with Charcot-Marie-Tooth disease.

Published in:

2012

By:

Koutsis G;
Pandraud A;
Polke JM;
Wood NW;
Panas M;
Karadima G;
Houlden H;
Koutsis, Georgios;
Pandraud, Amelie;
Polke, James M;
Wood, Nicholas W;
Panas, Marios;
Karadima, Georgia;
Houlden, Henry

Publication type:

Letter

Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease.

Published in:

2009

By:

Neumann J;
Bras J;
Deas E;
O'Sullivan SS;
Parkkinen L;
Lachmann RH;
Li A;
Holton J;
Guerreiro R;
Paudel R;
Segarane B;
Singleton A;
Lees A;
Hardy J;
Houlden H;
Revesz T;
Wood NW;
Neumann, Juliane;
Bras, Jose;
Deas, Emma

Publication type:

journal article

Neuropathology of Beta-propeller protein associated neurodegeneration (BPAN): a new tauopathy.

Published in:

Acta Neuropathologica Communications, 2015, v. 3, n. 1, p. 1, doi. 10.1186/s40478-015-0221-3

By:

Paudel, R.;
Li, A.;
Wiethoff, S.;
Bandopadhyay, R.;
Bhatia, K.;
de Silva, R.;
Houlden, H.;
Holton, J. L.

Publication type:

Article

Connexin 32 promoter P2 mutations: a mechanism of peripheral nerve dysfunction.

Published in:

2004

By:

Houlden H;
Girard M;
Cockerell C;
Ingram D;
Wood NW;
Goossens M;
Walker RWH;
Reilly MM

Publication type:

Journal Article

Frequency of tau mutations in three series of non-Alzheimer's degenerative dementia.

Published in:

1999

By:

Houlden, H.;
Baker, M.;
Adamson, J.;
Grover, A.;
Waring, S.;
Dickson, D.;
Lynch, T.;
Boeve, B.;
Petersen, R. C.;
Pickering-Brown, S.;
Owen, F.;
Neary, D.;
Craufurd, D.;
Snowden, J.;
Mann, D.;
Hutton, M.

Publication type:

journal article

Baseline factors associated with early and late death in intracerebral haemorrhage survivors.

Published in:

European Journal of Neurology, 2020, v. 27, n. 7, p. 1257, doi. 10.1111/ene.14238

By:

Banerjee, G.;
Ambler, G.;
Wilson, D.;
Hostettler, I. C.;
Shakeshaft, C.;
Lunawat, S.;
Cohen, H.;
Yousry, T.;
Al‐Shahi Salman, R.;
Lip, G. Y. H.;
Houlden, H.;
Muir, K. W.;
Brown, M. M.;
Jäger, H. R.;
Werring, D. J.;
Shaw, Louise;
Harkness, Kirsty;
Sword, Jane;
Mohd Nor, Azlisham;
Sharma, Pankaj

Publication type:

Article

Microsatellite D21S210 (GT-12) allele frequencies in sporadic Alzheimer's disease.

Published in:

Acta Neurologica Scandinavica, 1995, v. 91, n. 2, p. 145, doi. 10.1111/j.1600-0404.1995.tb00422.x

By:

Lannfelt, L.;
Lilius, L.;
Viitanen, M.;
Houlden, H.;
Rossor, M.;
Hardy, J.;
Winblad, B.;
Basun, H.

Publication type:

Article

A study of hereditary ataxias in the Greek population.

Published in:

Archives of Hellenic Medicine / Arheia Ellenikes Iatrikes, 2014, v. 31, n. 4, p. 433

By:

KOUTSIS, G.;
KLADI, A.;
KARADIMA, G.;
HOULDEN, H.;
WOOD, N. W.;
CHRISTODOULOU, C.;
PANAS, M.

Publication type:

Article

A study of hereditary motor and sensory neuropathies (Charcot-Marie-Tooth disease) in the Greek population.

Published in:

Archives of Hellenic Medicine / Arheia Ellenikes Iatrikes, 2013, v. 30, n. 2, p. 186

By:

KARADIMA, G.;
KOUTSIS, G.;
FLOROSKUFI, P.;
HOULDEN, H.;
PANAS, M.

Publication type:

Article

Clinical variability and l-Dopa responsive Parkinsonism in hereditary spastic paraplegia 11.

Published in:

2012

By:

Everett, C.;
Kara, E.;
Maresh, K.;
Houlden, H.

Publication type:

Letter

Genetic screening of Greek patients with Huntington's disease phenocopies identifies an SCA8 expansion.

Published in:

Journal of Neurology, 2012, v. 259, n. 9, p. 1874, doi. 10.1007/s00415-012-6430-9

By:

Koutsis, G.;
Karadima, G.;
Pandraud, A.;
Sweeney, M.;
Paudel, R.;
Houlden, H.;
Wood, N.;
Panas, M.

Publication type:

Article

Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort.

Published in:

Journal of Neurology, 2012, v. 259, n. 8, p. 1673, doi. 10.1007/s00415-011-6397-y

By:

Davidson, G.;
Murphy, S.;
Polke, J.;
Laura, M.;
Salih, M.;
Muntoni, F.;
Blake, J.;
Brandner, S.;
Davies, N.;
Horvath, R.;
Price, S.;
Donaghy, M.;
Roberts, M.;
Foulds, N.;
Ramdharry, G.;
Soler, D.;
Lunn, M.;
Manji, H.;
Davis, M.;
Houlden, H.

Publication type:

Article

Biallelic KITLG variants lead to a distinct spectrum of hypomelanosis and sensorineural hearing loss.

Published in:

Journal of the European Academy of Dermatology & Venereology, 2022, v. 36, n. 9, p. 1606, doi. 10.1111/jdv.18207

By:

Vona, B.;
Schwartzbaum, D.A.;
Rodriguez, A.A.;
Lewis, S.S.;
Toosi, M.B.;
Radhakrishnan, P.;
Bozan, N.;
Akın, R.;
Doosti, M.;
Manju, R.;
Duman, D.;
Sineni, C.J.;
Nampoothiri, S.;
Karimiani, E.G.;
Houlden, H.;
Bademci, G.;
Tekin, M.;
Girisha, K.M.;
Maroofian, R.;
Douzgou, S.

Publication type:

Article