Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 30 (of 33 Records) |
Query Trace: Apraxia[original query] |
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Progranulin null mutations in both sporadic and familial frontotemporal dementia. Human mutation 2007 Sep 28 (9): 846-55. Le Ber Isabelle, van der Zee Julie, Hannequin Didier, Gijselinck Ilse, Campion Dominique, Puel Michèle, Laquerrière Annie, De Pooter Tim, Camuzat Agnès, Van den Broeck Marleen, Dubois Bruno, Sellal François, Lacomblez Lucette, Vercelletto Martine, Thomas-Antérion Catherine, Michel Bernard-François, Golfier Véronique, Didic Mira, Salachas François, Duyckaerts Charles, Cruts Marc, Verpillat Patrice, Van Broeckhoven Christine, Brice Alexis, |
Distinct clinical characteristics of C9orf72 expansion carriers compared with GRN, MAPT, and nonmutation carriers in a Flanders-Belgian FTLD cohort. JAMA neurology 2013 Mar 70 (3): 365-73. Van Langenhove Tim, van der Zee Julie, Gijselinck Ilse, Engelborghs Sebastiaan, Vandenberghe Rik, Vandenbulcke Mathieu, De Bleecker Jan, Sieben Anne, Versijpt Jan, Ivanoiu Adrian, Deryck Olivier, Willems Christiana, Dillen Lubina, Philtjens Stéphanie, Maes Githa, Bäumer Veerle, Van Den Broeck Marleen, Mattheijssens Maria, Peeters Karin, Martin Jean-Jacques, Michotte Alex, Santens Patrick, De Jonghe Peter, Cras Patrick, De Deyn Peter P, Cruts Marc, Van Broeckhoven Christi |
Motor features in posterior cortical atrophy and their imaging correlates. Neurobiology of aging 2014 Dec 35 (12): 2845-57. Ryan Natalie S, Shakespeare Timothy J, Lehmann Manja, Keihaninejad Shiva, Nicholas Jennifer M, Leung Kelvin K, Fox Nick C, Crutch Sebastian |
APOE e4 influences ß-amyloid deposition in primary progressive aphasia and speech apraxia. Alzheimer's & dementia : the journal of the Alzheimer's Association 2014 Nov 10 (6): 630-6. Josephs Keith A, Duffy Joseph R, Strand Edythe A, Machulda Mary M, Senjem Matthew L, Lowe Val J, Jack Clifford R, Whitwell Jennifer |
Association of genetic variants in senataxin and Alzheimer's disease in a Chinese Han population in Taiwan. The Chinese journal of physiology 2014 Apr 57 (2): 83-9. Shen Che-Piao, Lin Wei-Yong, Lin Ting-Fang, Wang Wen-Fu, Tsai Chon-Haw, Hsu Ban-Dar, Huang Chih-Yang, Liu Hsin-Ping, Tsai Fuu-J |
Apraxia in mild cognitive impairment and Alzheimer's disease: validity and reliability of the Van Heugten test for apraxia. Dementia and geriatric cognitive disorders 2014 38 (1-2): 55-64. Smits Lieke L, Flapper Marinke, Sistermans Nicole, Pijnenburg Yolande A L, Scheltens Philip, van der Flier Wiesje |
Constructional apraxia in frontotemporal dementia associated with the C9orf72 mutation: broadening the clinical and neuropsychological phenotype. Amyotrophic lateral sclerosis & frontotemporal degeneration 2015 Mar 16 (1-2): 8-15. Floris Gianluca, Borghero Giuseppe, Cannas Antonino, Di Stefano Francesca, Ruiu Elisa, Murru Maria R, Corongiu Daniela, Cuccu Stefania, Tranquilli Stefania, Sardu Claudia, Marrosu Maria G, Chiò Adriano, Marrosu Frances |
Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia. BMC medical genetics 2015 16 36. Hamza Wahiba, Ali Pacha Lamia, Hamadouche Tarik, Muller Jean, Drouot Nathalie, Ferrat Farida, Makri Samira, Chaouch Malika, Tazir Meriem, Koenig Michel, Benhassine Tra |
Gesture Performance in First- and Multiple-Episode Patients with Schizophrenia Spectrum Disorders. Neuropsychobiology 2016 May 73 (4): 201-208. Stegmayer Katharina, Moor Jeanne, Vanbellingen Tim, Bohlhalter Stephan, Müri René M, Strik Werner, Walther Sebasti |
Neuropsychological Symptoms in Sporadic Creutzfeldt-Jakob Disease Patients in Germany. Journal of Alzheimer's disease : JAD 2017 Jun . Krasnianski Anna, Bohling Geeske T, Heinemann Uta, Varges Daniela, Meissner Bettina, Schulz-Schaeffer Walter J, Reif Andreas, Zerr In |
A Novel Homozygous Variant of SETX Causes Ataxia with Oculomotor Apraxia Type 2. Journal of clinical neurology (Seoul, Korea) 2018 9 14 (4): 498-504. Tariq Huma, Imran Rashid, Naz Sad |
Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1. JAMA neurology 2018 1 75 (4): 495-502. Renaud Mathilde, Moreira Maria-Céu, Ben Monga Bondo, Rodriguez Diana, Debs Rabab, Charles Perrine, Chaouch Malika, Ferrat Farida, Laurencin Chloé, Vercueil Laurent, Mallaret Martial, M'Zahem Abderrahim, Pacha Lamia Ali, Tazir Meriem, Tilikete Caroline, Ollagnon Elisabeth, Ochsner François, Kuntzer Thierry, Jung Hans H, Beis Jean-Marie, Netter Jean-Claude, Djamshidian Atbin, Bower Mattew, Bottani Armand, Walsh Richard, Murphy Sinead, Reiley Thomas, Bieth Éric, Roelens Filip, Poll-The Bwee Tien, Lourenço Charles Marques, Jardim Laura Bannach, Straussberg Rachel, Landrieu Pierre, Roze Emmanuel, Thobois Stéphane, Pouget Jean, Guissart Claire, Goizet Cyril, Dürr Alexandra, Tranchant Christine, Koenig Michel, Anheim Mathi |
Ataxia with Oculomotor Apraxia Type 4 with PNKP Common "Portuguese" and Novel Mutations in Two Belarusian Families. Journal of pediatric genetics 2019 5 8 (2): 58-62. Rudenskaya Galina E, Marakhonov Andrey V, Shchagina Olga A, Lozier Ekaterina R, Dadali Elena L, Akimova Irina A, Petrova Nika V, Konovalov Fedor |
Refining the Phenotype of Recurrent Rearrangements of Chromosome 16. International journal of molecular sciences 2019 3 20 (5): . Redaelli Serena, Maitz Silvia, Crosti Francesca, Sala Elena, Villa Nicoletta, Spaccini Luigina, Selicorni Angelo, Rigoldi Miriam, Conconi Donatella, Dalprà Leda, Roversi Gaia, Bentivegna Ange |
Compound Heterozygous Mutations in PNKP Gene in an Iranian Child with Microcephaly, Seizures, and Developmental Delay. Fetal and pediatric pathology 2019 11 40 (2): 174-180. Bitarafan Fatemeh, Khodaeian Mehrnoosh, Almadani Navid, Kalhor Alireza, Sardehaei Elham Amjadi, Garshasbi Maso |
The Phenotypic Spectrum of PNKP-Associated Disease and the Absence of Immunodeficiency and Cancer Predisposition in a Dutch Cohort. Pediatric neurology 2020 9 113 26-32. Garrelfs Mark R, Takada Sanami, Kamsteeg Erik-Jan, Pegge Sjoert, Mancini Grazia, Engelen Marc, van de Warrenburg Bart, Rennings Alexander, van Gaalen Judith, Peters Ivo, Weemaes Corry, van der Burg Mirjam, Willemsen Michèl |
CYP1A2 rs762551 and ADORA2A rs5760423 Polymorphisms in Patients with Blepharospasm. Journal of molecular neuroscience : MN 2020 May . Siokas Vasileios, Kardaras Dimitrios, Aloizou Athina-Maria, Liampas Ioannis, Papageorgiou Eleni, Drakoulis Nikolaos, Tsatsakis Aristidis, Mitsias Panayiotis D, Hadjigeorgiou Georgios M, Tsironi Evangelia E, Dardiotis Efthimi |
Clinical and Molecular Diagnosis of Joubert Syndrome and Related Disorders. Pediatric neurology 2020 3 106 43-49. Radha Rama Devi Akella, Naushad Shaik Mohammad, Lingappa Loke |
Primary Progressive Aphasia Associated With GRN Mutations: New Insights Into the Nonamyloid Logopenic Variant. Neurology 2021 May . Saracino Dario, Ferrieux Sophie, Noguès-Lassiaille Marie, Houot Marion, Funkiewiez Aurélie, Sellami Leila, Deramecourt Vincent, Pasquier Florence, Couratier Philippe, Pariente Jérémie, Géraudie Amandine, Epelbaum Stéphane, Wallon David, Hannequin Didier, Martinaud Olivier, Clot Fabienne, Camuzat Agnès, Bottani Simona, Rinaldi Daisy, Auriacombe Sophie, Sarazin Marie, Didic Mira, Boutoleau-Bretonnière Claire, Thauvin-Robinet Christel, Lagarde Julien, Roué-Jagot Carole, Sellal François, Gabelle Audrey, Etcharry-Bouyx Frédérique, Morin Alexandre, Coppola Cinzia, Levy Richard, Dubois Bruno, Brice Alexis, Colliot Olivier, Gorno-Tempini Maria Luisa, Teichmann Marc, Migliaccio Raffaella, Le Ber Isabelle, |
Primary progressive aphasias associated with C9orf72 expansions: Another side of the story. Cortex; a journal devoted to the study of the nervous system and behavior 2021 10 145 145-159. Saracino Dario, Géraudie Amandine, Remes Anne M, Ferrieux Sophie, Noguès-Lassiaille Marie, Bottani Simona, Cipriano Lorenzo, Houot Marion, Funkiewiez Aurélie, Camuzat Agnès, Rinaldi Daisy, Teichmann Marc, Pariente Jérémie, Couratier Philippe, Boutoleau-Bretonnière Claire, Auriacombe Sophie, Etcharry-Bouyx Frédérique, Levy Richard, Migliaccio Raffaella, Solje Eino, Le Ber Isabelle, |
Neurocognitive assessment and DNA sequencing expand the phenotype and genotype spectrum of Alström syndrome. American journal of medical genetics. Part A 2021 1 185 (3): 732-742. Dassie Francesca, Lorusso Riccardina, Benavides-Varela Silvia, Milan Gabriella, Favaretto Francesca, Callus Edward, Cagnin Stefano, Reggiani Francesco, Minervini Giovanni, Tosatto Silvio, Vettor Roberto, Semenza Carlo, Maffei Piet |
Posterior Cortical Atrophy phenotype in a GBA N370S mutation carrier: a case report. BMC neurology 2021 Jan 21 (1): 17. Picillo Marina, Scannapieco Sara, Iavarone Alessandro, Ginevrino Monia, Valente Enza Maria, Barone Pao |
Differences in Motor Features of C9orf72, MAPT, or GRN Variant Carriers With Familial Frontotemporal Lobar Degeneration. Neurology 2022 7 99 (11): e1154-e1167. Tipton Philip Wade, Deutschlaender Angela B, Savica Rodolfo, Heckman Michael G, Brushaber Danielle E, Dickerson Bradford C, Gavrilova Ralitza H, Geschwind Daniel H, Ghoshal Nupur, Graff-Radford Jonathan, Graff-Radford Neill R, Grossman Murray, Hsiung Ging-Yuek R, Huey Edward D, Irwin David John, Jones David T, Knopman David S, McGinnis Scott M, Rademakers Rosa, Ramos Eliana Marisa, Forsberg Leah K, Heuer Hilary W, Onyike Chiadi, Tartaglia Carmela, Domoto-Reilly Kimiko, Roberson Erik D, Mendez Mario F, Litvan Irene, Appleby Brian S, Grant Ian, Kaufer Daniel, Boxer Adam L, Rosen Howard J, Boeve Brad F, Wszolek Zbigniew K, |
PSEN2 Mutation Spectrum and Novel Functionally Validated Mutations in Alzheimer's Disease: Data from PUMCH Dementia Cohort. Journal of Alzheimer's disease : JAD 2022 5 87 (4): 1549-1556. Dong Liling, Liu Caiyan, Sha Longze, Mao Chenhui, Li Jie, Huang Xinying, Wang Jie, Chu Shanshan, Peng Bin, Cui Liying, Xu Qi, Gao Ji |
Clinical and Genetic Characterization of Brazilian Patients with Ataxia and Oculomotor Apraxia. Movement disorders : official journal of the Movement Disorder Society 2022 4 37 (6): 1309-1316. da Costa Sophia Caldas Gonzaga, de Rezende-Filho Flávio C, de Freitas Júlian Leticia, de Assis Pereira Matos Paula Camila Alves, Della-Ripa Bruno, França Marcondes Cavalcante, Marques Wilson, Santos Mariana, Cronemberger Igor Vasconcelos Barros, Vale Thiago Cardoso, Kok Fernando, Alonso Isabel, Pedroso José Luiz, Barsottini Orlando G |
A Novel SETX Mutation in a Taiwanese Patient with Autosomal Recessive Cerebellar Ataxia Detected by Targeted Next-Generation Sequencing, and a Literature Review. Brain sciences 2022 2 12 (2): . Chiang Ping-I, Liao Ting-Wei, Chen Chiung-M |
KIRREL3-related disorders: a case report confirming the radiological features and expanding the clinical spectrum to a less severe phenotype. Italian journal of pediatrics 2023 8 49 (1): 99. Andrea Querzani, Fabio Sirchia, Gianluca Rustioni, Alessandra Rossi, Alessandro Orsini, Gian Luigi Marseglia, Salvatore Savasta, Luisa Chiapparini, Thomas Foiadel |
The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued. Orphanet journal of rare diseases 2023 5 18 (1): 101. Simone Schröder, Gökhan Yigit, Yun Li, Janine Altmüller, Hans-Martin Büttel, Barbara Fiedler, Christoph Kretzschmar, Peter Nürnberg, Jürgen Seeger, Valentina Serpieri, Enza Maria Valente, Bernd Wollnik, Eugen Boltshauser, Knut Brockma |
Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy. International journal of molecular sciences 2023 11 24 (22): . Dolores Martínez-Rubio, Isabel Hinarejos, Herminia Argente-Escrig, Clara Marco-Marín, María Ana Lozano, Nerea Gorría-Redondo, Vincenzo Lupo, Itxaso Martí-Carrera, Concepción Miranda, María Vázquez-López, Asunción García-Pérez, Ana Victoria Marco-Hernández, Miguel Tomás-Vila, Sergio Aguilera-Albesa, Carmen Espin |
Potential Modifying Effect of the APOE?4 Allele on Age of Onset and Clinical Manifestations in Patients with Early-Onset Alzheimer's Disease with and without a Pathogenic Variant in PSEN1 in a Sample of the Mexican Population. International journal of molecular sciences 2023 11 24 (21): . César A Valdez-Gaxiola, Eric Jonathan Maciel-Cruz, Rubiceli Hernández-Peña, Sofía Dumois-Petersen, Frida Rosales-Leycegui, Martha Patricia Gallegos-Arreola, José Miguel Moreno-Ortiz, Luis E Figue |
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- Page last updated:Apr 22, 2024
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