Works matching AU Houlden, Henry

Results: 339

Parkinson's Disease in Kazakhstan: Clinico-Demographic Description of a Large Cohort.

Published in:

2020

By:

Kaiyrzhanov, Rauan;
Zharkinbekova, Nazira;
Shashkin, Chingiz;
Khaibullin, Talgat;
Kaishibayeva, Gulnaz;
Akhmetzhanov, Vadim;
Sadykova, Dinara Z.;
Seidinova, Zhanar;
Taskinbayeva, Anjela;
Karimova, Altynay;
Rizig, Mie;
Houlden, Henry

Publication type:

Letter

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

Published in:

Epileptic Disorders, 2018, v. 20, n. 5, p. 423, doi. 10.1684/epd.2018.0992

By:

Pironti, Erica;
Granata, Francesca;
Cucinotta, Francesca;
Gagliano, Antonella;
Efthymiou, Stephanie;
Houlden, Henry;
Salpietro, Vincenzo;
Di Rosa, Gabriella

Publication type:

Article

An exploration of the genetics of the mutant Huntingtin (mHtt) gene in a cohort of patients with chorea from different ethnic groups in sub‐Saharan Africa.

Published in:

Annals of Human Genetics, 2025, v. 89, n. 4, p. 149, doi. 10.1111/ahg.12557

By:

Muthinja, Mendi J;
Guelngar, Carlos Othon;
Fall, Maouly;
Jama, Fatumah;
Shuja, Huda Aldeen;
Nambafu, Jamila;
Massi, Daniel Gams;
Ojo, Oluwadamilola O.;
Okubadejo, Njideka U.;
Taiwo, Funmilola Tolulope;
Diop, Alassane Mamadou;
de Chacus, Coudjou J. D. G.;
Cissé, Fodé Abass;
Cissé, Amara;
Hooker, Juzar;
Sokhi, Dilraj;
Houlden, Henry;
Rizig, Mie

Publication type:

Article

Phenotypic variability in progressive encephalopathy with brain atrophy and thin corpus callosum: insights from two families.

Published in:

Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-025-00799-7

By:

Aynekin, Busra;
Akbaş, Sinan;
Gulec, Ayten;
Gumus, Ummu Gulsum Ozgul;
Guner, Abdullah Emre;
Efthymiou, Stephanie;
Houlden, Henry;
Sayın, Gözde Yesil;
Per, Huseyin

Publication type:

Article

Correction to: Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene.

Published in:

2022

By:

Rinaldi, Berardo;
Ge, Yu‑Han;
Freri, Elena;
Tucci, Arianna;
Granata, Tiziana;
Estienne, Margherita;
Sun, Jia‑Hui;
Gérard, Bénédicte;
Bayat, Allan;
Efthymiou, Stephanie;
Gervasini, Cristina;
Shi, Yun Stone;
Houlden, Henry;
Marchisio, Paola;
Milani, Donatella

Publication type:

Correction Notice

Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene.

Published in:

Neurogenetics, 2022, v. 23, n. 1, p. 27, doi. 10.1007/s10048-021-00666-1

By:

Rinaldi, Berardo;
Ge, Yu-Han;
Freri, Elena;
Tucci, Arianna;
Granata, Tiziana;
Estienne, Margherita;
Sun, Jia-Hui;
Gérard, Bénédicte;
Bayat, Allan;
Efthymiou, Stephanie;
Gervasini, Cristina;
Shi, Yun Stone;
Houlden, Henry;
Marchisio, Paola;
Milani, Donatella

Publication type:

Article

SBF1 mutations associated with autosomal recessive axonal neuropathy with cranial nerve involvement.

Published in:

Neurogenetics, 2017, v. 18, n. 1, p. 63, doi. 10.1007/s10048-016-0505-1

By:

Manole, Andreea;
Horga, Alejandro;
Gamez, Josep;
Raguer, Nuria;
Salvado, Maria;
San Millán, Beatriz;
Navarro, Carmen;
Pittmann, Alan;
Reilly, Mary;
Houlden, Henry

Publication type:

Article

Call for participation in the neurogenetics consortium within the Human Variome Project.

Published in:

Neurogenetics, 2011, v. 12, n. 3, p. 169, doi. 10.1007/s10048-011-0287-4

By:

Haworth, Andrea;
Bertram, Lars;
Carrera, Paola;
Elson, Joanna;
Braastad, Corey;
Cox, Diane;
Cruts, Marc;
Dunnen, Johann;
Farrer, Matthew;
Fink, John;
Hamed, Sherifa;
Houlden, Henry;
Johnson, Dennis;
Nuytemans, Karen;
Palau, Francesc;
Rayan, Dipa;
Robinson, Peter;
Salas, Antonio;
Schüle, Birgitt;
Sweeney, Mary

Publication type:

Article

Molecular and computational analysis of a novel pathogenic variant in emopamil-binding protein (EBP) involved in cholesterol biosynthetic pathway causing a rare male EBP disorder with neurologic defects (MEND syndrome).

Published in:

Molecular Biology Reports, 2025, v. 52, n. 1, p. 1, doi. 10.1007/s11033-024-10183-7

By:

Bibi, Hadiba;
Ahmad, Riaz;
Rahman, Fatima;
Maqbool, Shazia;
Naeem, Muhammad;
Efthymiou, Stephanie;
Houlden, Henry

Publication type:

Article

Report of a novel missense TDP1 variant in a Pakistani family affected with an extremely rare disorder congenital spinocerebellar ataxia with axonal neuropathy type 1 (SCAN1).

Published in:

Molecular Biology Reports, 2025, v. 52, n. 1, p. 1, doi. 10.1007/s11033-024-10085-8

By:

Ahmad, Riaz;
Sayyad, Filza;
Naeem, Muhammad;
Houlden, Henry

Publication type:

Article

Novel ALDH3A2 mutations in structural and functional domains of FALDH causing diverse clinical phenotypes in Sjögren–Larsson syndrome patients.

Published in:

Human Mutation, 2021, v. 42, n. 8, p. 1015, doi. 10.1002/humu.24236

By:

Rajeshwari, Mohan;
Karthi, Sellamuthu;
Singh, Reetu;
Efthymiou, Stephanie;
Gowda, Vykuntaraju K.;
Varalakshmi, Perumal;
Srinivasan, Varunvenkat M.;
Houlden, Henry;
Keller, Markus A.;
Rizzo, William B.;
Ashokkumar, Balasubramaniem

Publication type:

Article

Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation.

Published in:

Human Mutation, 2021, v. 42, n. 6, p. 699, doi. 10.1002/humu.24195

By:

Torraco, Alessandra;
Nasca, Alessia;
Verrigni, Daniela;
Pennisi, Alessandra;
Zaki, Maha S.;
Olivieri, Giorgia;
Assouline, Zahra;
Martinelli, Diego;
Maroofian, Reza;
Rizza, Teresa;
Di Nottia, Michela;
Invernizzi, Federica;
Lamantea, Eleonora;
Longo, Daniela;
Houlden, Henry;
Prokisch, Holger;
Rötig, Agnès;
Dionisi‐Vici, Carlo;
Bertini, Enrico;
Ghezzi, Daniele

Publication type:

Article

A loss‐of‐function homozygous mutation in <italic>DDX59</italic> implicates a conserved DEAD‐box RNA helicase in nervous system development and function.

Published in:

Human Mutation, 2018, v. 39, n. 2, p. 187, doi. 10.1002/humu.23368

By:

Salpietro, Vincenzo;
Efthymiou, Stephanie;
Manole, Andreea;
Maurya, Bhawana;
Wiethoff, Sarah;
Ashokkumar, Balasubramaniem;
Cutrupi, Maria Concetta;
Dipasquale, Valeria;
Manti, Sara;
Botia, Juan A.;
Ryten, Mina;
Vandrovcova, Jana;
Bello, Oscar D.;
Bettencourt, Conceicao;
Mankad, Kshitij;
Mukherjee, Ashim;
Mutsuddi, Mousumi;
Houlden, Henry

Publication type:

Article

The inherited ataxias: Genetic heterogeneity, mutation databases, and future directions in research and clinical diagnostics.

Published in:

Human Mutation, 2012, v. 33, n. 9, p. 1324, doi. 10.1002/humu.22132

By:

Hersheson, Joshua;
Haworth, Andrea;
Houlden, Henry

Publication type:

Article

Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35).

Published in:

Human Mutation, 2010, v. 31, n. 4, p. E1251, doi. 10.1002/humu.21205

By:

Dick, Katherine J.;
Eckhardt, Matthias;
Paisán-Ruiz, Coro;
Alshehhi, Aisha Alkhayat;
Proukakis, Christos;
Sibtain, Naomi A.;
Maier, Helena;
Sharifi, Reza;
Patton, Michael A.;
Bashir, Wafa;
Koul, Roshan;
Raeburn, Sandy;
Gieselmann, Volkmar;
Houlden, Henry;
Crosby, Andrew H.

Publication type:

Article

Prevalence of familial cluster headache: a systematic review and meta-analysis.

Published in:

Journal of Headache & Pain, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s10194-020-01101-w

By:

O'Connor, Emer;
Simpson, Benjamin S.;
Houlden, Henry;
Vandrovcova, Jana;
Matharu, Manjit

Publication type:

Article

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

Published in:

Journal of Clinical Medicine, 2019, v. 8, n. 10, p. 991, doi. 10.3390/jcm8070991

By:

Bugiardini, Enrico;
Pope, Simon;
Feichtinger, René G.;
Poole, Olivia V.;
Pittman, Alan M.;
Woodward, Cathy E.;
Heales, Simon;
Quinlivan, Rosaline;
Houlden, Henry;
Mayr, Johannes A.;
Hanna, Michael G.;
Pitceathly, Robert D.S.

Publication type:

Article

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

Published in:

Journal of Clinical Medicine, 2019, v. 8, n. 7, p. 991, doi. 10.3390/jcm8070991

By:

Bugiardini, Enrico;
Pope, Simon;
Feichtinger, René G.;
Poole, Olivia V.;
Pittman, Alan M.;
Woodward, Cathy E.;
Heales, Simon;
Quinlivan, Rosaline;
Houlden, Henry;
Mayr, Johannes A.;
Hanna, Michael G.;
Pitceathly, Robert D.S.

Publication type:

Article

Riboflavin Responsive Mitochondrial Dysfunction in Neurodegenerative Diseases.

Published in:

Journal of Clinical Medicine, 2017, v. 6, n. 5, p. 52, doi. 10.3390/jcm6050052

By:

Udhayabanu, Tamilarasan;
Manole, Andreea;
Rajeshwari, Mohan;
Varalakshmi, Perumal;
Houlden, Henry;
Ashokkumar, Balasubramaniem

Publication type:

Article

De novo mutation in SLC25A22 gene: expansion of the clinical and electroencephalographic phenotype.

Published in:

Journal of Neurogenetics, 2021, v. 35, n. 2, p. 67, doi. 10.1080/01677063.2021.1892094

By:

Nicotera, Antonio Gennaro;
Dicanio, Daniela;
Pironti, Erica;
Bonsignore, Maria;
Cafeo, Anna;
Efthymiou, Stephanie;
Mondello, Patrizia;
Salpietro, Vincenzo;
Houlden, Henry;
Di Rosa, Gabriella

Publication type:

Article

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

Published in:

Journal of Neurogenetics, 2018, v. 32, n. 4, p. 316, doi. 10.1080/01677063.2018.1476510

By:

Pironti, Erica;
Salpietro, Vincenzo;
Cucinotta, Francesca;
Granata, Francesca;
Mormina, Enricomaria;
Efthymiou, Stephanie;
Scuderi, Carmela;
Gagliano, Antonella;
Houlden, Henry;
Di Rosa, Gabriella

Publication type:

Article

Using human induced pluripotent stem cells to model cerebellar disease: Hope and hype.

Published in:

Journal of Neurogenetics, 2015, v. 29, n. 2/3, p. 95, doi. 10.3109/01677063.2015.1053478

By:

Wiethoff, Sarah;
Arber, Charles;
Li, Abi;
Wray, Selina;
Houlden, Henry;
Patani, Rickie

Publication type:

Article

Pure cerebellar ataxia due to bi‐allelic PRDX3 variants including recurring p.Asp202Asn.

Published in:

Annals of Clinical & Translational Neurology, 2023, v. 10, n. 10, p. 1910, doi. 10.1002/acn3.51874

By:

Efthymiou, Stephanie;
Novis, Luiz E.;
Koutsis, Georgios;
Koniari, Chrysoula;
Maroofian, Reza;
Turchetti, Valentina;
Velonakis, Georgios;
Vasconcellos, Luiz F.;
Raskin, Salmo;
Srinivasan, Varunvenkat M.;
Pagnamenta, Alistair T.;
Arun, Yaramanchanahalli B.;
Kinhal, Uddhava V.;
Gowda, Vykuntaraju K.;
Teive, Helio A. G.;
Houlden, Henry

Publication type:

Article

PI4K2A deficiency causes innate error in intracellular trafficking with developmental and epileptic-dyskinetic encephalopathy.

Published in:

Annals of Clinical & Translational Neurology, 2022, v. 9, n. 9, p. 1345, doi. 10.1002/acn3.51634

By:

Dafsari, Hormos Salimi;
Pemberton, Joshua G.;
Ferrer, Elizabeth A.;
Yammine, Tony;
Farra, Chantal;
Mohammadi, Mohammad Hasan;
Karimiani, Ehsan Ghayoor;
Hashemi, Narges;
Souaid, Mirna;
Sabbagh, Sandra;
Torbati, Paria Najarzadeh;
Khan, Suliman;
Roze, Emmanuel;
Moreno-De-Luca, Andres;
Bertoli-Avella, Aida M.;
Houlden, Henry;
Balla, Tamas;
Maroofian, Reza

Publication type:

Article

Genetic defects are common in myopathies with tubular aggregates.

Published in:

Annals of Clinical & Translational Neurology, 2022, v. 9, n. 1, p. 4, doi. 10.1002/acn3.51477

By:

Gang, Qiang;
Bettencourt, Conceição;
Brady, Stefen;
Holton, Janice L.;
Healy, Estelle G.;
McConville, John;
Morrison, Patrick J.;
Ripolone, Michela;
Violano, Raffaella;
Sciacco, Monica;
Moggio, Maurizio;
Mora, Marina;
Mantegazza, Renato;
Zanotti, Simona;
Wang, Zhaoxia;
Yuan, Yun;
Liu, Wei‐wei;
Beeson, David;
Hanna, Michael;
Houlden, Henry

Publication type:

Article

Expanding the phenotypic spectrum of BCS1L‐related mitochondrial disease.

Published in:

Annals of Clinical & Translational Neurology, 2021, v. 8, n. 11, p. 2155, doi. 10.1002/acn3.51470

By:

Hikmat, Omar;
Isohanni, Pirjo;
Keshavan, Nandaki;
Ferla, Matteo P.;
Fassone, Elisa;
Abbott, Mary‐Alice;
Bellusci, Marcello;
Darin, Niklas;
Dimmock, David;
Ghezzi, Daniele;
Houlden, Henry;
Invernizzi, Federica;
Kamarus Jaman, Nazreen B.;
Kurian, Manju A.;
Morava, Eva;
Naess, Karin;
Ortigoza‐Escobar, Juan Darío;
Parikh, Sumit;
Pennisi, Alessandra;
Barcia, Giulia

Publication type:

Article

SORL1 mutation in a Greek family with Parkinson's disease and dementia.

Published in:

Annals of Clinical & Translational Neurology, 2021, v. 8, n. 10, p. 1961, doi. 10.1002/acn3.51433

By:

Xiromerisiou, Georgia;
Bourinaris, Thomas;
Houlden, Henry;
Lewis, Patrick A.;
Senkevich, Konstantin;
Hammer, Monia;
Federoff, Monica;
Khan, Alaa;
Spanaki, Cleanthe;
Hadjigeorgiou, Georgios M.;
Bonstanjopoulou, Sevasti;
Fidani, Liana;
Ermolaev, Aleksey;
Gan‐Or, Ziv;
Singleton, Andrew;
Vandrovcova, Jana;
Hardy, John

Publication type:

Article

Reply: Genetic heterogeneity of neuronal intranuclear inclusion disease. What about the infantile variant?

Published in:

Annals of Clinical & Translational Neurology, 2021, v. 8, n. 4, p. 1002, doi. 10.1002/acn3.51330

By:

Yau, Wai Yan;
Chen, Zhongbo;
Sullivan, Roisin;
Vandrovcova, Jana;
Houlden, Henry

Publication type:

Article

Reply to: No evidence supports genetic heterogeneity of neuronal intranuclear inclusion disease.

Published in:

Annals of Clinical & Translational Neurology, 2020, v. 7, n. 12, p. 2544, doi. 10.1002/acn3.51222

By:

Chen, Zhongbo;
Ryten, Mina;
Houlden, Henry

Publication type:

Article

<italic>GLS</italic> loss of function causes autosomal recessive spastic ataxia and optic atrophy.

Published in:

Annals of Clinical & Translational Neurology, 2018, v. 5, n. 2, p. 216, doi. 10.1002/acn3.522

By:

Lynch, David S.;
Chelban, Viorica;
Vandrovcova, Jana;
Pittman, Alan;
Wood, Nicholas W.;
Houlden, Henry

Publication type:

Article

Multiple system atrophy: the application of genetics in understanding etiology.

Published in:

Clinical Autonomic Research, 2015, v. 25, n. 1, p. 19, doi. 10.1007/s10286-014-0267-5

By:

Federoff, Monica;
Schottlaender, Lucia;
Houlden, Henry;
Singleton, Andrew

Publication type:

Article

Questions on NOTCH2NLC Repeat Expansions in Parkinson Disease.

Published in:

2021

By:

Yau, Wai Yan;
Houlden, Henry;
Vandrovcova, Jana

Publication type:

Letter

Multiple System Atrophy and Repeat Expansions in C9orf72.

Published in:

JAMA Neurology, 2014, v. 71, n. 9, p. 1190, doi. 10.1001/jamaneurol.2014.1808

By:

Schottlaender, Lucia V.;
Holton, Janice L.;
Houlden, Henry;
Goldman, Jill S.;
Kuo, Sheng-Han

Publication type:

Article

A 6.4 Mb Duplication of the a-Synuclein Locus Causing Frontotemporal Dementia and Parkinsonism Phenotype-Genotype Correlations.

Published in:

JAMA Neurology, 2014, v. 71, n. 9, p. 1162, doi. 10.1001/jamaneurol.2014.994

By:

Kara, Eleanna;
Kiely, Aoife P.;
Proukakis, Christos;
Giffin, Nicola;
Love, Seth;
Hehir, Jason;
Rantell, Khadija;
Pandraud, Amelie;
Hernandez, Dena G.;
Nacheva, Elizabeth;
Pittman, Alan M.;
Nalls, Mike A.;
Singleton, Andrew B.;
Revesz, Tamas;
Bhatia, Kailash P.;
Quinn, Niall;
Hardy, John;
Holton, Janice L.;
Houlden, Henry

Publication type:

Article

Insights From Cerebellar Transcriptomic Analysis Into the Pathogenesis of Ataxia.

Published in:

JAMA Neurology, 2014, v. 71, n. 7, p. 831, doi. 10.1001/jamaneurol.2014.756

By:

Bettencourt, Conceiçâo;
Ryten, Mina;
Forabosco, Paola;
Schorge, Stephanie;
Hersheson, Joshua;
Hardy, John;
Houlden, Henry

Publication type:

Article

'Outcomes of genetic testing in the London MND Center: the importance of achieving timely results and correlations to family history'.

Published in:

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2024, v. 25, n. 7/8, p. 737, doi. 10.1080/21678421.2024.2370808

By:

Spencer, Dean;
Polke, James;
Campbell, Joanna;
Houlden, Henry;
Radunovic, Aleksandar

Publication type:

Article

Prevalence of C9orf72 hexanucleotide repeat expansion in Greek patients with sporadic ALS.

Published in:

2020

By:

Sokratous, Maria;
Lucia, Schottlaender;
Bourinaris, Thomas;
Marogianni, Chrysoula;
Arnaoutoglou, Marianthi;
Patrikiou, Eleni;
Ralli, Styliani;
Markou, Aikaterini;
Dardiotis, Efthimios;
Houlden, Henry;
Hadjigeorgiou, Georgios M.;
Xiromerisiou, Georgia

Publication type:

Report

Analysis of Short Tandem Repeat Expansions in a Cohort of 12,496 Exomes from Patients with Neurological Diseases Reveals Variable Genotyping Rate Dependent on Exome Capture Kits.

Published in:

Genes, 2025, v. 16, n. 2, p. 169, doi. 10.3390/genes16020169

By:

Rocca, Clarissa;
Murphy, David;
Clarkson, Chris;
Zanovello, Matteo;
Gagliardi, Delia;
Genomics, Queen Square;
Kaiyrzhanov, Rauan;
Alvi, Javeria;
Maroofian, Reza;
Efthymiou, Stephanie;
Sultan, Tipu;
Vandrovcova, Jana;
Polke, James;
Labrum, Robyn;
Houlden, Henry;
Tucci, Arianna

Publication type:

Article

A Novel MAG Variant Causes Hereditary Spastic Paraplegia in a Consanguineous Pakistani Family.

Published in:

Genes, 2024, v. 15, n. 9, p. 1203, doi. 10.3390/genes15091203

By:

Akram, Rabia;
Anwar, Haseeb;
Muzaffar, Humaira;
Turchetti, Valentina;
Lau, Tracy;
Vona, Barbara;
Makhdoom, Ehtisham Ul Haq;
Iqbal, Javed;
Mahmood Baig, Shahid;
Hussain, Ghulam;
Efthymiou, Stephanie;
Houlden, Henry

Publication type:

Article

NUP85 as a Neurodevelopmental Gene: From Podocyte to Neuron.

Published in:

Genes, 2023, v. 14, n. 12, p. 2143, doi. 10.3390/genes14122143

By:

Gambadauro, Antonella;
Mangano, Giuseppe Donato;
Galletta, Karol;
Granata, Francesca;
Riva, Antonella;
Massella, Laura;
Guzzo, Isabella;
Farello, Giovanni;
Scorrano, Giovanna;
Di Francesco, Ludovica;
Di Donato, Giulio;
Ianni, Carolina;
Di Ludovico, Armando;
La Bella, Saverio;
Striano, Pasquale;
Efthymiou, Stephanie;
Houlden, Henry;
Nardello, Rosaria;
Chimenz, Roberto

Publication type:

Article

Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders.

Published in:

Genes, 2023, v. 14, n. 7, p. 1404, doi. 10.3390/genes14071404

By:

Saadi, Saadia Maryam;
Cali, Elisa;
Khalid, Lubaba Bintee;
Yousaf, Hammad;
Zafar, Ghazala;
Khan, Haq Nawaz;
Sher, Muhammad;
Vona, Barbara;
Abdullah, Uzma;
Malik, Naveed Altaf;
Klar, Joakim;
Efthymiou, Stephanie;
Dahl, Niklas;
Houlden, Henry;
Toft, Mathias;
Baig, Shahid Mahmood;
Fatima, Ambrin;
Iqbal, Zafar

Publication type:

Article

Genetic Insights from Consanguineous Cardiomyopathy Families.

Published in:

Genes, 2023, v. 14, n. 1, p. 182, doi. 10.3390/genes14010182

By:

Maurer, Constance;
Boleti, Olga;
Najarzadeh Torbati, Paria;
Norouzi, Farzaneh;
Fowler, Anna Nicole Rebekah;
Minaee, Shima;
Salih, Khalid Hama;
Taherpour, Mehdi;
Birjandi, Hassan;
Alizadeh, Behzad;
Salih, Aso Faeq;
Bijari, Moniba;
Houlden, Henry;
Pittman, Alan Michael;
Maroofian, Reza;
Almashham, Yahya H.;
Karimiani, Ehsan Ghayoor;
Kaski, Juan Pablo;
Faqeih, Eissa Ali;
Vakilian, Farveh

Publication type:

Article

Genetic variability at the PARK16 locus.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 12, p. 1356, doi. 10.1038/ejhg.2010.125

By:

Tucci, Arianna;
Nalls, Mike A.;
Houlden, Henry;
Revesz, Tamas;
Singleton, Andrew B.;
Wood, Nicholas W.;
Hardy, John;
Paisán-Ruiz, Coro

Publication type:

Article

Familial Idiopathic Brain Calcification – A New and Familial {FC12}a-Synucleinopathy?

Published in:

European Neurology, 2003, v. 49, n. 4, p. 223, doi. 10.1159/000070189

By:

Lhatoo, Samden D.;
Perunovic, Branca;
Love, Seth;
Houlden, Henry;
Campbell, Malcolm J.

Publication type:

Article

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

Published in:

PLoS ONE, 2018, v. 13, n. 12, p. 1, doi. 10.1371/journal.pone.0207984

By:

Okubadejo, Njideka U.;
Rizig, Mie;
Ojo, Oluwadamilola O.;
Jonvik, Hallgeir;
Oshinaike, Olajumoke;
Brown, Emmeline;
Houlden, Henry

Publication type:

Article

Advancing Charcot-Marie-Tooth disease diagnostics, through the UK 100,000 Genomes Project.

Published in:

Medizinische Genetik, 2020, p. 227, doi. 10.1515/medgen-2020-2037

By:

Pipis, Menelaos;
Houlden, Henry;
Reilly, Mary M.

Publication type:

Article

Advancing Charcot-Marie-Tooth disease diagnostics, through the UK 100,000 Genomes Project.

Published in:

Medizinische Genetik, 2020, p. 227, doi. 10.1515/medgen-2020-2037

By:

Pipis, Menelaos;
Houlden, Henry;
Reilly, Mary M.

Publication type:

Article

Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia.

Published in:

2017

By:

Bettencourt, Conceição;
Salpietro, Vincenzo;
Efthymiou, Stephanie;
Chelban, Viorica;
Hughes, Deborah;
Pittman, Alan M.;
Federoff, Monica;
Bourinaris, Thomas;
Spilioti, Martha;
Deretzi, Georgia;
Kalantzakou, Triantafyllia;
Houlden, Henry;
Singleton, Andrew B.;
Xiromerisiou, Georgia

Publication type:

journal article

Alzheimer disease PS-1 exon 9 deletion defined.

Published in:

Nature Medicine, 1999, v. 5, n. 10, p. 1090, doi. 10.1038/13383

By:

Prihar, Guy;
Verkkoniem, Auli;
Perez-Tur, Jordi;
Crook, Richard;
Lincoln, Sarah;
Houlden, Henry;
Somer, Mirja;
Paetau, Anders;
Kalimo, Hannu;
Grover, Andrew;
Myllykangas, Liisa;
Hutton, Mike;
Hardy, John;
Haltia, Matti

Publication type:

Article

Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C.

Published in:

Nature Genetics, 2010, v. 42, n. 2, p. 170, doi. 10.1038/ng.512

By:

Landouré, Guida;
Zdebik, Anselm A.;
Martinez, Tara L.;
Burnett, Barrington G.;
Stanescu, Horia C.;
Inada, Hitoshi;
Yijun Shi;
Taye, Addis A.;
Lingling Kong;
Munns, Clare H.;
Choo, Shelly S.;
Phelps, Christopher B.;
Paudel, Reema;
Houlden, Henry;
Ludlow, Christy L.;
Caterina, Michael J.;
Gaudet, Rachelle;
Kleta, Robert;
Fischbeck, Kenneth H.;
Sumner, Charlotte J.

Publication type:

Article