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AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
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AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

Vincenzo Salpietro Christine L Dixon; Hui Guo; Oscar D Bello; Jana Vandrovcova; Stephanie Efthymiou; Reza Maroofian; Gali Heimer; Lydie Burglen; Fernando Kok

Nature communications v. 10, article ID 3094, 16p, 2019

London 2019

Online access. The library also has physical copies.

2
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia
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Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia

Cortese, Andrea ; Simone, Roberto ; Sullivan, Roisin ; Vandrovcova, Jana ; Tariq, Huma ; Yau, Wai Yan ; Humphrey, Jack ; Jaunmuktane, Zane ; Sivakumar, Prasanth ; Polke, James ; Ilyas, Muhammad ; Tribollet, Eloise ; Tomaselli, Pedro J ; Devigili, Grazia ; Callegari, Ilaria ; Versino, Maurizio ; Salpietro, Vincenzo ; Efthymiou, Stephanie ; Kaski, Diego ; Wood, Nick W ; Andrade, Nadja S ; Buglo, Elena ; Rebelo, Adriana ; Rossor, Alexander M ; Bronstein, Adolfo ; Fratta, Pietro ; Marques, Wilson J ; Züchner, Stephan ; Reilly, Mary M ; Houlden, Henry

Nature genetics, 2019-04, Vol.51 (4), p.649-658 [Peer Reviewed Journal]

United States: Nature Publishing Group

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3
Applying genomic and transcriptomic advances to mitochondrial medicine
Applying genomic and transcriptomic advances to mitochondrial medicine
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Applying genomic and transcriptomic advances to mitochondrial medicine

Macken, William L ; Vandrovcova, Jana ; Hanna, Michael G ; Pitceathly, Robert D S

Nature reviews. Neurology, 2021-04, Vol.17 (4), p.215-230 [Peer Reviewed Journal]

England: Nature Publishing Group

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4
Prevalence of familial cluster headache: a systematic review and meta-analysis
Prevalence of familial cluster headache: a systematic review and meta-analysis
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Prevalence of familial cluster headache: a systematic review and meta-analysis

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

Journal of headache and pain, 2020-04, Vol.21 (1), p.37-37, Article 37 [Peer Reviewed Journal]

Milan: Springer Milan

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5
GGC Repeat Expansion in NOTCH2NLC Is Rare in European Leukoencephalopathy
GGC Repeat Expansion in NOTCH2NLC Is Rare in European Leukoencephalopathy
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GGC Repeat Expansion in NOTCH2NLC Is Rare in European Leukoencephalopathy

Yau, Wai Yan ; Sullivan, Roisin ; Chen, Zhongbo ; Lynch, David S. ; Vandrovcova, Jana ; Wood, Nicholas W. ; Houlden, Henry

Annals of neurology, 2020-09, Vol.88 (3), p.641-642 [Peer Reviewed Journal]

Hoboken, USA: John Wiley & Sons, Inc

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6
Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement
Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement
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Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement

Kapferer-Seebacher, Ines ; Pepin, Melanie ; Werner, Roland ; Aitman, Timothy J. ; Nordgren, Ann ; Stoiber, Heribert ; Thielens, Nicole ; Gaboriaud, Christine ; Amberger, Albert ; Schossig, Anna ; Gruber, Robert ; Giunta, Cecilia ; Bamshad, Michael ; Björck, Erik ; Chen, Christina ; Chitayat, David ; Dorschner, Michael ; Schmitt-Egenolf, Marcus ; Hale, Christopher J. ; Hanna, David ; Hennies, Hans Christian ; Heiss-Kisielewsky, Irene ; Lindstrand, Anna ; Lundberg, Pernilla ; Mitchell, Anna L. ; Nickerson, Deborah A. ; Reinstein, Eyal ; Rohrbach, Marianne ; Romani, Nikolaus ; Schmuth, Matthias ; Silver, Rachel ; Taylan, Fulya ; Vandersteen, Anthony ; Vandrovcova, Jana ; Weerakkody, Ruwan ; Yang, Margaret ; Pope, F. Michael ; Aleck, Kirk ; Banki, Zoltan ; Dudas, Joszef ; Dumfahrt, Herbert ; Haririan, Hady ; Hartsfield, James K. ; Kagen, Charles N. ; Lindert, Uschi ; Meitinger, Thomas ; Posch, Wilfried ; Pritz, Christian ; Ross, David ; Schroer, Richard J. ; Wick, Georg ; Wildin, Robert ; Wilflingseder, Doris ; Byers, Peter H. ; Zschocke, Johannes

American journal of human genetics, 2016-11, Vol.99 (5), p.1005-1014 [Peer Reviewed Journal]

United States: Elsevier Inc

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7
Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project
Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project
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Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project

Bourinaris, Thomas ; Smedley, Damian ; Cipriani, Valentina ; Sheikh, Isabella ; Athanasiou-Fragkouli, Alkyoni ; Chinnery, Patrick ; Morris, Huw ; Real, Raquel ; Harrison, Victoria ; Reid, Evan ; Wood, Nicholas ; Vandrovcova, Jana ; Houlden, Henry ; Tucci, Arianna

European journal of human genetics : EJHG, 2020-12, Vol.28 (12), p.1763-1768 [Peer Reviewed Journal]

England: Nature Publishing Group

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8
The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders
The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders
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The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders

Salpietro, Vincenzo ; Zollo, Massimo ; Vandrovcova, Jana ; Ryten, Mina ; Botia, Juan A ; Ferrucci, Veronica ; Manole, Andreea ; Efthymiou, Stephanie ; Al Mutairi, Fuad ; Bertini, Enrico ; Tartaglia, Marco ; Houlden, Henry

Brain (London, England : 1878), 2017-08, Vol.140 (8), p.e49-e49 [Peer Reviewed Journal]

England: Oxford University Press

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9
MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies
MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies
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MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies

TRABZUNI, Daniah ; WRAY, Selina ; AREPALLI, Sampath ; SINGLETON, Andrew B ; COOKSON, Mark R ; PITTMAN, Alan M ; DE SILVA, Rohan ; WEALE, Michael E ; HARDY, John ; RYTEN, Mina ; VANDROVCOVA, Jana ; RAMASAMY, Adaikalavan ; WALKER, Robert ; SMITH, Colin ; LUK, Connie ; RAPHAEL GIBBS, J ; DILLMAN, Allissa ; HERNANDEZ, Dena G

Human molecular genetics, 2012-09, Vol.21 (18), p.4094-4103 [Peer Reviewed Journal]

Oxford: Oxford University Press

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10
Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases
Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases
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Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases

Perenthaler, Elena ; Nikoncuk, Anita ; Yousefi, Soheil ; Berdowski, Woutje M. ; Alsagob, Maysoon ; Capo, Ivan ; van der Linde, Herma C. ; van den Berg, Paul ; Jacobs, Edwin H. ; Putar, Darija ; Ghazvini, Mehrnaz ; Aronica, Eleonora ; van IJcken, Wilfred F. J. ; de Valk, Walter G. ; Medici-van den Herik, Evita ; van Slegtenhorst, Marjon ; Brick, Lauren ; Kozenko, Mariya ; Kohler, Jennefer N. ; Bernstein, Jonathan A. ; Monaghan, Kristin G. ; Begtrup, Amber ; Torene, Rebecca ; Al Futaisi, Amna ; Al Murshedi, Fathiya ; Mani, Renjith ; Al Azri, Faisal ; Kamsteeg, Erik-Jan ; Mojarrad, Majid ; Eslahi, Atieh ; Khazaei, Zaynab ; Darmiyan, Fateme Massinaei ; Doosti, Mohammad ; Karimiani, Ehsan Ghayoor ; Vandrovcova, Jana ; Zafar, Faisal ; Rana, Nuzhat ; Kandaswamy, Krishna K. ; Hertecant, Jozef ; Bauer, Peter ; AlMuhaizea, Mohammed A. ; Salih, Mustafa A. ; Aldosary, Mazhor ; Almass, Rawan ; Al-Quait, Laila ; Qubbaj, Wafa ; Coskun, Serdar ; Alahmadi, Khaled O. ; Hamad, Muddathir H. A. ; Alwadaee, Salem ; Awartani, Khalid ; Dababo, Anas M. ; Almohanna, Futwan ; Colak, Dilek ; Dehghani, Mohammadreza ; Mehrjardi, Mohammad Yahya Vahidi ; Gunel, Murat ; Ercan-Sencicek, A. Gulhan ; Passi, Gouri Rao ; Cheema, Huma Arshad ; Efthymiou, Stephanie ; Houlden, Henry ; Bertoli-Avella, Aida M. ; Brooks, Alice S. ; Retterer, Kyle ; Maroofian, Reza ; Kaya, Namik ; van Ham, Tjakko J. ; Barakat, Tahsin Stefan

Acta neuropathologica, 2020-03, Vol.139 (3), p.415-442 [Peer Reviewed Journal]

Berlin/Heidelberg: Springer Berlin Heidelberg

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