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	1.	Next-generation sequencing in neuromuscular diseases. [electronic resource] by Efthymiou, Stephanie Manole, Andreea Houlden, Henry Producer: 20180109 In: Current opinion in neurology vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	A Review of Copy Number Variants in Inherited Neuropathies. [electronic resource] by Salpietro, Vincenzo Manole, Andreea Efthymiou, Stephanie Houlden, Henry Publication details: Current genomics Sep 2018 In: Current genomics vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	The genetics of intellectual disability: advancing technology and gene editing. [electronic resource] by Ilyas, Muhammad Mir, Asif Efthymiou, Stephanie Houlden, Henry Producer: 20201029 In: F1000Research vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Paroxysmal Movement Disorder and Epilepsy Caused by a De Novo Truncating Mutation in [electronic resource] by Efthymiou, Stephanie Salpietro, Vincenzo Bettencourt, Conceicao Houlden, Henry Publication details: Journal of pediatric genetics Sep 2018 In: Journal of pediatric genetics vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	A [electronic resource] by Efthymiou, Stephanie Salpietro, Vincenzo Pironti, Erica Bonsignore, Maria Ferrazzoli, Valentina Rosa, Gabriella Di Houlden, Henry Producer: 20200622 In: Journal of genetics vol. 98 Availability: No items available. Save to lists Add to cart (remove)
	6.	Age-dependent epileptic encephalopathy associated with an unusual co-occurrence of ZEB2 and SCN1A variants. [electronic resource] by Nardello, Rosaria Fontana, Antonina Mangano, Giuseppe Donato Efthymiou, Stephanie Salpietro, Vincenzo Houlden, Henry Mangano, Salvatore Producer: 20201102 In: Epileptic disorders : international epilepsy journal with videotape vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Continuum of phenotypes in hereditary motor and sensory neuropathy with proximal predominance and Charcot-Marie-Tooth patients with TFG mutation. [electronic resource] by Khani, Marzieh Taheri, Hanieh Shamshiri, Hosein Houlden, Henry Efthymiou, Stephanie Alavi, Afagh Nafissi, Shahriar Elahi, Elahe Producer: 20200803 In: American journal of medical genetics. Part A vol. 179 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families. [electronic resource] by Ilyas, Muhammad Efthymiou, Stephanie Salpietro, Vincenzo Noureen, Nuzhat Zafar, Faisal Rauf, Sobiah Mir, Asif Houlden, Henry Producer: 20200504 In: BMC medical genetics vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Electroclinical history of a five-year-old girl with GRIN1-related early-onset epileptic encephalopathy: a video-case study. [electronic resource] by Pironti, Erica Granata, Francesca Cucinotta, Francesca Gagliano, Antonella Efthymiou, Stephanie Houlden, Henry Salpietro, Vincenzo Di Rosa, Gabriella Producer: 20190207 In: Epileptic disorders : international epilepsy journal with videotape vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Identification of common genetic markers of paroxysmal neurological disorders using a network analysis approach. [electronic resource] by Ilyas, Muhammad Salpietro, Vincenzo Efthymiou, Stephanie Bourinaris, Thomas Tariq, Ayesha Imdad, Maria Ahmad, Akmal Ahmad, Habib Houlden, Henry Producer: 20210118 In: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology vol. 41 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Novel likely disease-causing CLN5 variants identified in Pakistani patients with neuronal ceroid lipofuscinosis. [electronic resource] by Azad, Beenish Efthymiou, Stephanie Sultan, Tipu Scala, Marcello Alvi, Javeria Raza Neuray, Caroline Dominik, Natalia Gul, Asma Houlden, Henry Producer: 20210510 In: Journal of the neurological sciences vol. 414 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Analysis of the prion protein gene in multiple system atrophy. [electronic resource] by Chelban, Viorica Manole, Andreea Pihlstrøm, Lasse Schottlaender, Lucia Efthymiou, Stephanie OConnor, Emer Meissner, Wassilios G Holton, Janice L Houlden, Henry Producer: 20171116 In: Neurobiology of aging vol. 49 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	A novel SLC1A4 homozygous mutation causing congenital microcephaly, epileptic encephalopathy and spastic tetraparesis: a video-EEG and tractography - case study. [electronic resource] by Pironti, Erica Salpietro, Vincenzo Cucinotta, Francesca Granata, Francesca Mormina, Enricomaria Efthymiou, Stephanie Scuderi, Carmela Gagliano, Antonella Houlden, Henry Di Rosa, Gabriella Producer: 20190930 In: Journal of neurogenetics vol. 32 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	A rare PANK2 deletion in the first north African patient affected with pantothenate kinase associated neurodegeneration. [electronic resource] by Efthymiou, Stephanie Kriouile, Yamna Salpietro, Vincenzo Hajar, Rhouda Ghizlane, Zouiri Mankad, Kshitij El Khorassani, Mohamed Aguennouz, Mhammed Houlden, Henry Wiethoff, Sarah Producer: 20210514 In: Journal of the neurological sciences vol. 410 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Biotin-Thiamine Responsive Encephalopathy: Report of an Egyptian Family with a Novel [electronic resource] by Savasta, Salvatore Bassanese, Francesco Buschini, Chiara Foiadelli, Thomas Trabatti, Chiara Efthymiou, Stephanie Salpietro, Vincenzo Houlden, Henry Simoncelli, Annamaria Marseglia, Gian Luigi Publication details: Journal of pediatric genetics Jun 2019 In: Journal of pediatric genetics vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	Rare novel CYP2U1 and ZFYVE26 variants identified in two Pakistani families with spastic paraplegia. [electronic resource] by Bibi, Farah Efthymiou, Stephanie Bourinaris, Thomas Tariq, Ambreen Zafar, Faisal Rana, Nouzhat Salpietro, Vincenzo Houlden, Henry Raja, Ghazala Kaukab Saeed, Sadia Minhas, Nasir Mahmood Producer: 20210514 In: Journal of the neurological sciences vol. 411 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders. [electronic resource] by 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 Producer: 20190516 In: Brain : a journal of neurology vol. 140 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia. [electronic resource] 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 Producer: 20180720 In: Orphanet journal of rare diseases vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	PDE10A and ADCY5 mutations linked to molecular and microstructural basal ganglia pathology. [electronic resource] by Niccolini, Flavia Mencacci, Niccolo E Yousaf, Tayyabah Rabiner, Eugenii A Salpietro, Vincenzo Pagano, Gennaro Balint, Bettina Efthymiou, Stephanie Houlden, Henry Gunn, Roger N Wood, Nicholas Bhatia, Kailash P Politis, Marios Producer: 20190910 In: Movement disorders : official journal of the Movement Disorder Society vol. 33 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	A homozygous loss-of-function mutation in PDE2A associated to early-onset hereditary chorea. [electronic resource] by Salpietro, Vincenzo Perez-Dueñas, Belen Nakashima, Kosuke San Antonio-Arce, Victoria Manole, Andreea Efthymiou, Stephanie Vandrovcova, Jana Bettencourt, Conceicao Mencacci, Niccolò E Klein, Christine Kelly, Michy P Davies, Ceri H Kimura, Haruhide Macaya, Alfons Houlden, Henry Producer: 20190611 In: Movement disorders : official journal of the Movement Disorder Society vol. 33 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 44 results.