Search Results - "Houlden, H."

The neuropathology, pathophysiology and genetics of multiple system atrophy by Ahmed, Z., Asi, Y. T., Sailer, A., Lees, A. J., Houlden, H., Revesz, T., Holton, J. L.

“…Z. Ahmed, Y. T. Asi, A. Sailer, A. J. Lees, H. Houlden, T. Revesz and J. L. Holton (2012) Neuropathology and Applied Neurobiology38, 4–24 The neuropathology,…”
Get full text

Review: Insights into molecular mechanisms of disease in neurodegeneration with brain iron accumulation: unifying theories by Arber, C. E., Li, A., Houlden, H., Wray, S.

“…Neurodegeneration with brain iron accumulation (NBIA) is a group of disorders characterized by dystonia, parkinsonism and spasticity. Iron accumulates in the…”
Get full text

A practical approach to diagnosing adult onset leukodystrophies by Ahmed, R M, Murphy, E, Davagnanam, I, Parton, M, Schott, J M, Mummery, C J, Rohrer, J D, Lachmann, R H, Houlden, H, Fox, N C, Chataway, J

Get full text

Neuroimaging Features of Neurodegeneration with Brain Iron Accumulation by KRUER, M. C, BODDAERT, N, SCHNEIDER, S. A, HOULDEN, H, BHATIA, K. P, GREGORY, A, ANDERSON, J. C, ROONEY, W. D, HOGARTH, P, HAYFLICK, S. J

“…NBIA characterizes a class of neurodegenerative diseases that feature a prominent extrapyramidal movement disorder, intellectual deterioration, and a…”
Get full text

Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series by Koriath, C., Kenny, J., Adamson, G., Druyeh, R., Taylor, W., Beck, J., Quinn, L., Mok, T. H., Dimitriadis, A., Norsworthy, P., Bass, N., Carter, J., Walker, Z., Kipps, C., Coulthard, E., Polke, J. M., Bernal-Quiros, M., Denning, N., Thomas, R., Raybould, R., Williams, J., Mummery, C. J., Wild, E. J., Houlden, H., Tabrizi, S. J., Rossor, M. N., Hummerich, H., Warren, J. D., Rowe, J. B., Rohrer, J. D., Schott, J. M., Fox, N. C., Collinge, J., Mead, S.

“…Next-generation genetic sequencing (NGS) technologies facilitate the screening of multiple genes linked to neurodegenerative dementia, but there are few…”
Get full text

Genome-wide estimate of the heritability of Multiple System Atrophy by Federoff, M, Price, T.R, Sailer, A, Scholz, S, Hernandez, D, Nicolas, A, Singleton, A.B, Nalls, M, Houlden, H

“…Abstract Introduction Multiple System Atrophy (MSA) is a neurodegenerative disease which presents heterogeneously with symptoms and signs of parkinsonism,…”
Get full text

Brain iron accumulation affects myelin-related molecular systems implicated in a rare neurogenetic disease family with neuropsychiatric features by Heidari, M, Johnstone, D M, Bassett, B, Graham, R M, Chua, A C G, House, M J, Collingwood, J F, Bettencourt, C, Houlden, H, Ryten, M, Olynyk, J K, Trinder, D, Milward, E A

“…The ‘neurodegeneration with brain iron accumulation’ (NBIA) disease family entails movement or cognitive impairment, often with psychiatric features. To…”
Get full text

Mutations in the HSP27 (HSPB1) gene cause dominant, recessive, and sporadic distal HMN/CMT type 2 by HOULDEN, H, LAURA, M, WAVRANT-DE VRIEZE, F, BLAKE, J, WOOD, N, REILLY, M. M

“…Charcot-Marie-Tooth disease (CMT) is the most common inherited neuromuscular disorder and is characterized by significant clinical and genetic heterogeneity…”
Get full text

Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations by POLKE, J. M, LAURA, M, DEVILE, C, SANDFORD, R, SWEENEY, M. G, DAVIS, M. B, REILLY, M. M, PAREYSON, D, TARONI, F, MILANI, M, BERGAMIN, G, GIBBONS, V. S, HOULDEN, H, CHAMLEY, S. C, BLAKE, J

“…Mutations in mitofusin 2 (MFN2) are the most common cause of axonal Charcot-Marie-Tooth disease (CMT2). Over 50 mutations have been reported, mainly causing…”
Get full text

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

“…Background Pathogenic variants in KITLG, a crucial protein involved in pigmentation and neural crest cell migration, cause non‐syndromic hearing loss,…”
Get full text

THAP1 mutations (DYT6) are an additional cause of early-onset dystonia by HOULDEN, H, SCHNEIDER, Spa, PAUDEL, R, MELCHERS, A, SCHWINGENSCHUH, P, EDWARDS, M, HARDY, J, BHATIA, K. P

“…The clinical phenotype of DYT6 consists mainly of primary craniocervical dystonia. Recently, the THAP1 gene was identified as the cause of DYT6, where a total…”
Get full text

Genetic and phenotypic characterization of NKX6‐2‐related spastic ataxia and hypomyelination by Chelban, V., Alsagob, M., Kloth, K., Chirita‐Emandi, A., Vandrovcova, J., Maroofian, R., Davagnanam, I., Bakhtiari, S., AlSayed, M. D., Rahbeeni, Z., AlZaidan, H., Malintan, N. T., Johannsen, J., Efthymiou, S., Ghayoor Karimiani, E., Mankad, K., Al‐Shahrani, S. A., Beiraghi Toosi, M., AlShammari, M., Groppa, S., Haridy, N. A., AlQuait, L., Qari, A., Huma, R., Salih, M. A., Almass, R., Almutairi, F. B., Hamad, M. H., Alorainy, I. A., Ramzan, K., Imtiaz, F., Puiu, M., Kruer, M. C., Bierhals, T., Wood, N. W., Colak, D., Houlden, H., Kaya, N.

“…Background and purpose Hypomyelinating leukodystrophies are a heterogeneous group of genetic disorders with a wide spectrum of phenotypes and a high rate of…”
Get full text

Neuropathology of Beta-propeller protein associated neurodegeneration (BPAN): a new tauopathy by Paudel, R, Li, A, Wiethoff, S, Bandopadhyay, R, Bhatia, K, de Silva, R, Houlden, H, Holton, J L

“…Beta-propeller protein associated neurodegeneration (BPAN) is associated with mutations in the WD repeat domain 45 (WDR45) gene on chromosome Xp11 resulting in…”
Get full text

Exercise related kidney failure due to SLC2A9 homozygous mutation by Scalco, R.S, Manole, A, Houlden, H, Murphy, E, Quinlivan, R

Get full text

Impact of mitochondrial mutations on the metabolite-dependent epigenetic profile of human induced pluripotent stem cell derived myotubes by O’Callaghan, B, Madej, M, Hanna, M.G, Morgan, J.E, Houlden, H

Get full text

The Cortical Basal ganglia Functional Scale (CBFS): Development and preliminary validation by Lang, Anthony E., Stebbins, Glenn T., Wang, Ping, Jabbari, Edwin, Lamb, Ruth, Morris, Huw, Boxer, Adam L., Boxer (PI), A., Boeve, B., Dickerson, B., Grossman, M., Litvan, I., Ljubenkov, P., Pantelyat, A., Rojas-Martinez, J., Tartaglia, M.-C., Wills, A.-M., Morris (PI), H., Amar, K., Capps, E., Carey, G., Church, A., Critchley, P., Ghosh, B., Houlden, H., Hu, M., Jabbari, Edwin, Kobylecki, C., Massey, L., Molloy, S., Nath, U., Pavese, N., Rowe, J.B.

“…To develop a patient/care-giver reported scale capable of easily and reliably assessing functional disability in 4 repeat tauopathies (4RTs). 4R tauopathies…”
Get full text

Review: Genetics and neuropathology of primary pure dystonia by Paudel, R., Hardy, J., Revesz, T., Holton, J. L., Houlden, H.

“…R. Paudel, J. Hardy, T. Revesz, J. L. Holton and H. Houlden (2012) Neuropathology and Applied Neurobiology38, 520–534 Genetics and neuropathology of primary…”
Get full text

Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort by Davidson, G. L., Murphy, S. M., Polke, J. M., Laura, M., Salih, M. A. 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. P., Manji, H., Davis, M. B., Houlden, H., Reilly, M. M.

“…The hereditary sensory and autonomic neuropathies (HSAN, also known as the hereditary sensory neuropathies) are a clinically and genetically heterogeneous…”
Get full text

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

Get full text

SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia by PAISAN-RUIZ, C, DOGU, O, YILMAZ, A, HOULDEN, H, SINGLETON, A

“…Autosomal recessive hereditary spastic paraplegia (ARHSP) with thin corpus callosum (TCC) is a common form of complex hereditary spastic paraplegia. The…”
Get full text