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Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44
Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44
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Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44

Watson, Lauren M. ; Bamber, Elizabeth ; Schnekenberg, Ricardo Parolin ; Williams, Jonathan ; Bettencourt, Conceição ; Lickiss, Jennifer ; Jayawant, Sandeep ; Fawcett, Katherine ; Clokie, Samuel ; Wallis, Yvonne ; Clouston, Penny ; Sims, David ; Houlden, Henry ; Becker, Esther B.E. ; Németh, Andrea H.

American journal of human genetics, 2017-09, Vol.101 (3), p.451-458 [Periódico revisado por pares]

United States: Elsevier Inc

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2
KIF1A, an Axonal Transporter of Synaptic Vesicles, Is Mutated in Hereditary Sensory and Autonomic Neuropathy Type 2
KIF1A, an Axonal Transporter of Synaptic Vesicles, Is Mutated in Hereditary Sensory and Autonomic Neuropathy Type 2
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KIF1A, an Axonal Transporter of Synaptic Vesicles, Is Mutated in Hereditary Sensory and Autonomic Neuropathy Type 2

Rivière, Jean-Baptiste ; Ramalingam, Siriram ; Lavastre, Valérie ; Shekarabi, Masoud ; Holbert, Sébastien ; Lafontaine, Julie ; Srour, Myriam ; Merner, Nancy ; Rochefort, Daniel ; Hince, Pascale ; Gaudet, Rébecca ; Mes-Masson, Anne-Marie ; Baets, Jonathan ; Houlden, Henry ; Brais, Bernard ; Nicholson, Garth A. ; Van Esch, Hilde ; Nafissi, Shahriar ; De Jonghe, Peter ; Reilly, Mary M. ; Timmerman, Vincent ; Dion, Patrick A. ; Rouleau, Guy A.

American journal of human genetics, 2011-08, Vol.89 (2), p.219-230 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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3
Cryptic Amyloidogenic Elements in the 3′ UTRs of Neurofilament Genes Trigger Axonal Neuropathy
Cryptic Amyloidogenic Elements in the 3′ UTRs of Neurofilament Genes Trigger Axonal Neuropathy
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Cryptic Amyloidogenic Elements in the 3′ UTRs of Neurofilament Genes Trigger Axonal Neuropathy

Rebelo, Adriana P. ; Abrams, Alexander J. ; Cottenie, Ellen ; Horga, Alejandro ; Gonzalez, Michael ; Bis, Dana M. ; Sanchez-Mejias, Avencia ; Pinto, Milena ; Buglo, Elena ; Markel, Kasey ; Prince, Jeffrey ; Laura, Matilde ; Houlden, Henry ; Blake, Julian ; Woodward, Cathy ; Sweeney, Mary G. ; Holton, Janice L. ; Hanna, Michael ; Dallman, Julia E. ; Auer-Grumbach, Michaela ; Reilly, Mary M. ; Zuchner, Stephan

American journal of human genetics, 2016-04, Vol.98 (4), p.597-614 [Periódico revisado por pares]

United States: Elsevier Inc

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4
Large C9orf72 Hexanucleotide Repeat Expansions Are Seen in Multiple Neurodegenerative Syndromes and Are More Frequent Than Expected in the UK Population
Large C9orf72 Hexanucleotide Repeat Expansions Are Seen in Multiple Neurodegenerative Syndromes and Are More Frequent Than Expected in the UK Population
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Large C9orf72 Hexanucleotide Repeat Expansions Are Seen in Multiple Neurodegenerative Syndromes and Are More Frequent Than Expected in the UK Population

Beck, Jon ; Poulter, Mark ; Hensman, Davina ; Rohrer, Jonathan D. ; Mahoney, Colin J. ; Adamson, Gary ; Campbell, Tracy ; Uphill, James ; Borg, Aaron ; Fratta, Pietro ; Orrell, Richard W. ; Malaspina, Andrea ; Rowe, James ; Brown, Jeremy ; Hodges, John ; Sidle, Katie ; Polke, James M. ; Houlden, Henry ; Schott, Jonathan M. ; Fox, Nick C. ; Rossor, Martin N. ; Tabrizi, Sarah J. ; Isaacs, Adrian M. ; Hardy, John ; Warren, Jason D. ; Collinge, John ; Mead, Simon

American journal of human genetics, 2013-03, Vol.92 (3), p.345-353 [Periódico revisado por pares]

United States: Elsevier Inc

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5
Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment
Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment
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Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment

Salpietro, Vincenzo ; Malintan, Nancy T. ; Llano-Rivas, Isabel ; Spaeth, Christine G. ; Efthymiou, Stephanie ; Striano, Pasquale ; Vandrovcova, Jana ; Cutrupi, Maria C. ; Chimenz, Roberto ; David, Emanuele ; Di Rosa, Gabriella ; Marce-Grau, Anna ; Raspall-Chaure, Miquel ; Martin-Hernandez, Elena ; Zara, Federico ; Minetti, Carlo ; Salpietro, Vincenzo ; Efthymiou, Stephanie ; Kriouile, Yamna ; El Khorassani, Mohamed ; Aguennouz, Mhammed ; Karashova, Blagovesta ; Avdjieva, Daniela ; Kathom, Hadil ; Tincheva, Radka ; Van Maldergem, Lionel ; Nachbauer, Wolfgang ; Boesch, Sylvia ; Arning, Larissa ; Timmann, Dagmar ; Cormand, Bru ; Pérez-Dueñas, Belen ; Di Rosa, Gabriella ; Pironti, Erica ; Goraya, Jatinder S. ; Sultan, Tipu ; Kirmani, Salman ; Ibrahim, Shahnaz ; Jan, Farida ; Mine, Jun ; Banu, Selina ; Veggiotti, Pierangelo ; Ferrari, Michel D. ; Verrotti, Alberto ; Marseglia, Gian Luigi ; Savasta, Salvatore ; Garavaglia, Barbara ; Scuderi, Carmela ; Borgione, Eugenia ; Dipasquale, Valeria ; Cutrupi, Maria Concetta ; Portaro, Simona ; Sanchez, Benigno Monteagudo ; Pineda-Marfa’, Mercedes ; Munell, Francina ; Macaya, Alfons ; Boles, Richard ; Heimer, Gali ; Papacostas, Savvas ; Manole, Andreea ; Malintan, Nancy ; Zanetti, Maria Natalia ; Hanna, Michael G. ; Rothman, James E. ; Kullmann, Dimitri M. ; Houlden, Henry ; Bello, Oscar D. ; De Zorzi, Rita ; Fortuna, Sara ; Dauber, Andrew ; Alkhawaja, Mariam ; Sultan, Tipu ; Mankad, Kshitij ; Vitobello, Antonio ; Thomas, Quentin ; Mau-Them, Frederic Tran ; Faivre, Laurence ; Martinez-Azorin, Francisco ; Prada, Carlos E. ; Macaya, Alfons ; Kullmann, Dimitri M. ; Rothman, James E. ; Krishnakumar, Shyam S. ; Houlden, Henry

American journal of human genetics, 2019-04, Vol.104 (4), p.721-730 [Periódico revisado por pares]

United States: Elsevier Inc

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6
Exome Sequence Reveals Mutations in CoA Synthase as a Cause of Neurodegeneration with Brain Iron Accumulation
Exome Sequence Reveals Mutations in CoA Synthase as a Cause of Neurodegeneration with Brain Iron Accumulation
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Exome Sequence Reveals Mutations in CoA Synthase as a Cause of Neurodegeneration with Brain Iron Accumulation

Dusi, Sabrina ; Valletta, Lorella ; Haack, Tobias B. ; Tsuchiya, Yugo ; Venco, Paola ; Pasqualato, Sebastiano ; Goffrini, Paola ; Tigano, Marco ; Demchenko, Nikita ; Wieland, Thomas ; Schwarzmayr, Thomas ; Strom, Tim M. ; Invernizzi, Federica ; Garavaglia, Barbara ; Gregory, Allison ; Sanford, Lynn ; Hamada, Jeffrey ; Bettencourt, Conceição ; Houlden, Henry ; Chiapparini, Luisa ; Zorzi, Giovanna ; Kurian, Manju A. ; Nardocci, Nardo ; Prokisch, Holger ; Hayflick, Susan ; Gout, Ivan ; Tiranti, Valeria

American journal of human genetics, 2014-01, Vol.94 (1), p.11-22 [Periódico revisado por pares]

United States: Elsevier Inc

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7
Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures
Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures
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Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures

Tan, Tiong Yang ; Sedmík, Jiří ; Fitzgerald, Mark P. ; Halevy, Rivka Sukenik ; Keegan, Liam P. ; Helbig, Ingo ; Basel-Salmon, Lina ; Cohen, Lior ; Straussberg, Rachel ; Chung, Wendy K. ; Helal, Mayada ; Maroofian, Reza ; Houlden, Henry ; Juusola, Jane ; Sadedin, Simon ; Pais, Lynn ; Howell, Katherine B. ; White, Susan M. ; Christodoulou, John ; O’Connell, Mary A.

American journal of human genetics, 2020-04, Vol.106 (4), p.467-483 [Periódico revisado por pares]

United States: Elsevier Inc

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8
Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification
Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification
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Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification

Schottlaender, Lucia V. ; Abeti, Rosella ; Jaunmuktane, Zane ; Macmillan, Carol ; Chelban, Viorica ; O’Callaghan, Benjamin ; McKinley, John ; Maroofian, Reza ; Efthymiou, Stephanie ; Athanasiou-Fragkouli, Alkyoni ; Forbes, Raeburn ; Soutar, Marc P.M. ; Livingston, John H. ; Kalmar, Bernardett ; Swayne, Orlando ; Hotton, Gary ; Groppa, Stanislav ; Karashova, Blagovesta Marinova ; Nachbauer, Wolfgang ; Boesch, Sylvia ; Arning, Larissa ; Timmann, Dagmar ; Cormand, Bru ; Pérez-Dueñas, Belen ; Di Rosa, Gabriella ; Goraya, Jatinder S. ; Sultan, Tipu ; Mine, Jun ; Avdjieva, Daniela ; Kathom, Hadil ; Tincheva, Radka ; Banu, Selina ; Pineda-Marfa, Mercedes ; Veggiotti, Pierangelo ; Ferrari, Michel D. ; Verrotti, Alberto ; Marseglia, Giangluigi ; Savasta, Salvatore ; García-Silva, Mayte ; Ruiz, Alfons Macaya ; Garavaglia, Barbara ; Borgione, Eugenia ; Portaro, Simona ; Sanchez, Benigno Monteagudo ; Boles, Richard ; Papacostas, Savvas ; Vikelis, Michail ; Papanicolaou, Eleni Zamba ; Dardiotis, Efthymios ; Maqbool, Shazia ; Ibrahim, Shahnaz ; Kirmani, Salman ; Rana, Nuzhat Noureen ; Atawneh, Osama ; Koutsis, George ; Breza, Marianthi ; Mangano, Salvatore ; Scuderi, Carmela ; Morello, Giovanna ; Stojkovic, Tanya ; Zollo, Massimi ; Heimer, Gali ; Dauvilliers, Yves A. ; Striano, Pasquale ; Al-Khawaja, Issam ; Al-Mutairi, Fuad ; Sherifa, Hamed ; Pittman, Alan ; Mendes de Oliveira, João Ricardo ; de Grandis, Maria ; Richard-Loendt, Angela ; Launchbury, Francesca ; Althonayan, Juri ; McDonnell, Gavin ; Carr, Aisling ; Khan, Suliman ; Beetz, Christian ; Bisgin, Atil ; Tug Bozdogan, Sevcan ; Begtrup, Amber ; Torti, Erin ; Greensmith, Linda ; Giunti, Paola ; Morrison, Patrick J. ; Brandner, Sebastian ; Aurrand-Lions, Michel ; Houlden, Henry

American journal of human genetics, 2020-03, Vol.106 (3), p.412-421 [Periódico revisado por pares]

United States: Elsevier Inc

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9
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome
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Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome

Ghosh, Shereen G. ; Becker, Kerstin ; Huang, He ; Dixon-Salazar, Tracy ; Chai, Guoliang ; Salpietro, Vincenzo ; Al-Gazali, Lihadh ; Waisfisz, Quinten ; Wang, Haicui ; Vaux, Keith K. ; Stanley, Valentina ; Manole, Andreea ; Akpulat, Ugur ; Weiss, Marjan M. ; Efthymiou, Stephanie ; Hanna, Michael G. ; Minetti, Carlo ; Striano, Pasquale ; Pisciotta, Livia ; De Grandis, Elisa ; Altmüller, Janine ; Weixler, Lisa ; Nürnberg, Peter ; Thiele, Holger ; Yis, Uluc ; Okur, Tuncay Derya ; Polat, Ayse Ipek ; Amiri, Nafise ; Doosti, Mohammad ; Karimani, Ehsan Ghayoor ; Toosi, Mehran B. ; Haddad, Gabriel ; Karakaya, Mert ; Wirth, Brunhilde ; van Hagen, Johanna M. ; Wolf, Nicole I. ; Maroofian, Reza ; Houlden, Henry ; Cirak, Sebahattin ; Gleeson, Joseph G.

American journal of human genetics, 2018-09, Vol.103 (3), p.431-439 [Periódico revisado por pares]

United States: Elsevier Inc

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10
De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions
De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions
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De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions

Mencacci, Niccolò E. ; Kamsteeg, Erik-Jan ; Nakashima, Kosuke ; R’Bibo, Lea ; Lynch, David S. ; Balint, Bettina ; Willemsen, Michèl A.A.P. ; Adams, Matthew E. ; Wiethoff, Sarah ; Suzuki, Kazunori ; Davies, Ceri H. ; Ng, Joanne ; Meyer, Esther ; Veneziano, Liana ; Giunti, Paola ; Hughes, Deborah ; Raymond, F. Lucy ; Carecchio, Miryam ; Zorzi, Giovanna ; Nardocci, Nardo ; Barzaghi, Chiara ; Garavaglia, Barbara ; Salpietro, Vincenzo ; Hardy, John ; Pittman, Alan M. ; Houlden, Henry ; Kurian, Manju A. ; Kimura, Haruhide ; Vissers, Lisenka E.L.M. ; Wood, Nicholas W. ; Bhatia, Kailash P.

American journal of human genetics, 2016-04, Vol.98 (4), p.763-771 [Periódico revisado por pares]

United States: Elsevier Inc

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