Full Text Journal Articles by
Author Juliette Piard

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The GRIA3 c.2477G > A Variant Causes an Exaggerated Startle Reflex, Chorea, and Multifocal Myoclonus.

Juliette Piard, Matthieu Béreau, Wenshu XiangWei, Thomas Wirth, Daniel Amsallem, Lauren Buisson, Philippe Richard, Nana Liu, Yuchen Xu, Scott J Myers, Stephen F Traynelis, Jameleddine Chelly, Mathieu Anheim, Martine Raynaud, Lionel Van Maldergem, Hongjie Yuan,

BACKGROUND:Hemizygous mutations in GRIA3 encoding the GluA3 subunit of the amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor are known to be associated with neurodevelopmental disorders, including intellectual disability, hypotonia, an autism spectrum disorder, sleep disturbances, and epilepsy in males. OBJECTIVE:To describe a new and consistent phenotype in 4 affected male patients associated with an ... Read more >>

Mov. Disord. (Movement disorders : official journal of the Movement Disorder Society)
[2020, :]

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A new case of KIAA0753-related variant of Jeune asphyxiating thoracic dystrophy.

Emilien Faudi, Elise Brischoux-Boucher, Céline Huber, Thibaud Dabudyk, Marion Lenoir, Geneviève Baujat, Caroline Michot, Lionel Van Maldergem, Valérie Cormier-Daire, Juliette Piard,

A narrow thorax with shortening of long bones is usually pointing to dysfunction of the primary cilia corresponding clinically to ciliopathies with major skeletal involvement. Mutations in at least 23 genes are likely to correspond to this clinical presentation: IFT43/52/80/81/122/140/172, WDR19/34/35/60, DYNC2H1, DYNC2LI1, CEP120, NEK1, TTC21B, TCTEX1D2, INTU, TCTN3, EVC ... Read more >>

Eur J Med Genet (European journal of medical genetics)
[2020, 63(4):103823]

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Whole MYBPC3 NGS sequencing as a molecular strategy to improve the efficiency of molecular diagnosis of patients with hypertrophic cardiomyopathy.

Alexandre Janin, Valérie Chanavat, Pierre-Antoine Rollat-Farnier, Claire Bardel, Karine Nguyen, Philippe Chevalier, Jean-Christophe Eicher, Laurence Faivre, Juliette Piard, Emma Albert, Severine Nony, Gilles Millat,

Hypertrophic cardiomyopathy (HCM) is the most common heritable cardiomyopathy, historically believed to affect 1 of 500 people. MYBPC3 pathogenic variations are the most frequent cause of familial HCM and more than 90% of them introduce a premature termination codon. The current study aims to determine the prevalence of deep intronic ... Read more >>

Hum. Mutat. (Human mutation)
[2020, 41(2):465-475]

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Split hand/foot malformation associated with 20p12.1 deletion: A case report.

Lyse Ruaud, Ricarda Flöttmann, Malte Spielmann, Fabienne Escande, Lionel Van Maldergem, Stefan Mundlos, Juliette Piard,

Split hand/foot malformation (SHFM) or ectrodactyly is a rare congenital disorder affecting limb development characterized by clinical and genetic heterogeneity. SHFM is usually inherited as an autosomal dominant trait with incomplete penetrance. Isolated and syndromic forms are described. The extent of associated malformations is highly variable and multiple syndromes with ... Read more >>

Eur J Med Genet (European journal of medical genetics)
[2020, 63(4):103805]

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Increasing knowledge in IGF1R defects: lessons from 35 new patients.

Eloïse Giabicani, Marjolaine Willems, Virginie Steunou, Sandra Chantot-Bastaraud, Nathalie Thibaud, Walid Abi Habib, Salah Azzi, Bich Lam, Laurence Bérard, Hélène Bony-Trifunovic, Cécile Brachet, Elise Brischoux-Boucher, Emmanuelle Caldagues, Regis Coutant, Marie-Laure Cuvelier, Georges Gelwane, Isabelle Guemas, Muriel Houang, Bertrand Isidor, Claire Jeandel, James Lespinasse, Catherine Naud-Saudreau, Monique Jesuran-Perelroizen, Laurence Perrin, Juliette Piard, Claire Sechter, Pierre-François Souchon, Caroline Storey, Domitille Thomas, Yves Le Bouc, Sylvie Rossignol, Irène Netchine, Frédéric Brioude,

BACKGROUND:The type 1 insulin-like growth factor receptor (IGF1R) is a keystone of fetal growth regulation by mediating the effects of IGF-I and IGF-II. Recently, a cohort of patients carrying an IGF1R defect was described, from which a clinical score was established for diagnosis. We assessed this score in a large ... Read more >>

J. Med. Genet. (Journal of medical genetics)
[2020, 57(3):160-168]

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A clinical scoring system for congenital contractural arachnodactyly.

Ilse Meerschaut, Shana De Coninck, Wouter Steyaert, Angela Barnicoat, Allan Bayat, Francesco Benedicenti, Siren Berland, Edward M Blair, Jeroen Breckpot, Anna de Burca, Anne Destrée, Sixto García-Miñaúr, Andrew J Green, Bernadette C Hanna, Kathelijn Keymolen, Marije Koopmans, Damien Lederer, Melissa Lees, Cheryl Longman, Sally Ann Lynch, Alison M Male, Fiona McKenzie, Isabelle Migeotte, Ercan Mihci, Banu Nur, Florence Petit, Juliette Piard, Frank S Plasschaert, Anita Rauch, Pascale Ribaï, Iratxe Salcedo Pacheco, Franco Stanzial, Irene Stolte-Dijkstra, Irene Valenzuela, Vinod Varghese, Pradeep C Vasudevan, Emma Wakeling, Carina Wallgren-Pettersson, Paul Coucke, Anne De Paepe, Daniël De Wolf, Sofie Symoens, Bert Callewaert,

PURPOSE:Congenital contractural arachnodactyly (CCA) is an autosomal dominant connective tissue disorder manifesting joint contractures, arachnodactyly, crumpled ears, and kyphoscoliosis as main features. Due to its rarity, rather aspecific clinical presentation, and overlap with other conditions including Marfan syndrome, the diagnosis is challenging, but important for prognosis and clinical management. CCA ... Read more >>

Genet. Med. (Genetics in medicine : official journal of the American College of Medical Genetics)
[2020, 22(1):124-131]

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Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature.

Juliette Piard, Lara Hawkes, Mathieu Milh, Laurent Villard, Renato Borgatti, Romina Romaniello, Melanie Fradin, Yline Capri, Delphine Héron, Marie-Christine Nougues, Caroline Nava, Oana Tarta Arsene, Debbie Shears, John Taylor, Alistair Pagnamenta, Jenny C Taylor, Yoshimi Sogawa, Diana Johnson, Helen Firth, Pradeep Vasudevan, Gabriela Jones, Marie-Ange Nguyen-Morel, Tiffany Busa, Agathe Roubertie, Myrthe van den Born, Elise Brischoux-Boucher, Michel Koenig, Cyril Mignot, , Usha Kini, Christophe Philippe,

The article has been corrected to account for one patient being investigated through genome sequencing rather than exome sequencing as originally published; thus amendments to the Abstract and Methods have been made as well as addition of the relevant authors and acknowledgment. ... Read more >>

Genet. Med. (Genetics in medicine : official journal of the American College of Medical Genetics)
[2019, 21(7):1667-1671]

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Phenotypic Overlap of Roberts and Baller-Gerold Syndromes in Two Patients With Craniosynostosis, Limb Reductions, and ESCO2 Mutations.

Elisa Adele Colombo, Hatice Mutlu-Albayrak, Yousef Shafeghati, Mine Balasar, Juliette Piard, Davide Gentilini, Anna Maria Di Blasio, Cristina Gervasini, Lionel Van Maldergem, Lidia Larizza,

Baller-Gerold (BGS, MIM#218600) and Roberts (RBS, MIM#268300) syndromes are rare autosomal recessive disorders caused, respectively, by biallelic alterations in RECQL4 (MIM*603780) and ESCO2 (MIM*609353) genes. Common features are severe growth retardation, limbs shortening and craniofacial abnormalities which may include craniosynostosis. We aimed at unveiling the genetic lesions underpinning the phenotype ... Read more >>

Front Pediatr (Frontiers in pediatrics)
[2019, 7:210]

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Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome.

Yline Capri, Elisabetta Flex, Oliver H F Krumbach, Giovanna Carpentieri, Serena Cecchetti, Christina Lißewski, Soheila Rezaei Adariani, Denny Schanze, Julia Brinkmann, Juliette Piard, Francesca Pantaleoni, Francesca R Lepri, Elaine Suk-Ying Goh, Karen Chong, Elliot Stieglitz, Julia Meyer, Alma Kuechler, Nuria C Bramswig, Stephanie Sacharow, Marion Strullu, Yoann Vial, Cédric Vignal, George Kensah, Goran Cuturilo, Neda S Kazemein Jasemi, Radovan Dvorsky, Kristin G Monaghan, Lisa M Vincent, Hélène Cavé, Alain Verloes, Mohammad R Ahmadian, Marco Tartaglia, Martin Zenker,

Aberrant signaling through pathways controlling cell response to extracellular stimuli constitutes a central theme in disorders affecting development. Signaling through RAS and the MAPK cascade controls a variety of cell decisions in response to cytokines, hormones, and growth factors, and its upregulation causes Noonan syndrome (NS), a developmental disorder whose ... Read more >>

Am. J. Hum. Genet. (American journal of human genetics)
[2019, 104(6):1223-1232]

Cited: 1 time

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Autopsy findings of ectodermal dysplasia and sex development disorder in a fetus with 19q12q13 microdeletion.

Nicolas Mottet, Christelle Cabrol, Jean-Patrick Metz, Claire Toubin, Francine Arbez-Gindre, Mylène Valduga, Kenneth McElreavey, Didier Riethmuller, Lionel Van Maldergem, Juliette Piard,

A 5,6 Mb de novo 19q12-q13.12 interstitial deletion was diagnosed prenatally by array-comparative genomic hybridization in a 26 weeks male fetus presenting with intra-uterine growth retardation, left clubfoot, atypical genitalia and dysmorphic features. Autopsic examination following termination of pregnancy identified a severe disorder of sex development (DSD) including hypospadias, micropenis, bifid ... Read more >>

Eur J Med Genet (European journal of medical genetics)
[2019, 62(9):103539]

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Phenotypic expansion in DDX3X - a common cause of intellectual disability in females.

Xia Wang, Jennifer E Posey, Jill A Rosenfeld, Carlos A Bacino, Fernando Scaglia, LaDonna Immken, Jill M Harris, Scott E Hickey, Theresa M Mosher, Anne Slavotinek, Jing Zhang, Joke Beuten, Magalie S Leduc, Weimin He, Francesco Vetrini, Magdalena A Walkiewicz, Weimin Bi, Rui Xiao, Pengfei Liu, Yunru Shao, Alper Gezdirici, Elif Y Gulec, Yunyun Jiang, Sandra A Darilek, Adam W Hansen, Michael M Khayat, Davut Pehlivan, Juliette Piard, Donna M Muzny, Neil Hanchard, John W Belmont, Lionel Van Maldergem, Richard A Gibbs, Mohammad K Eldomery, Zeynep C Akdemir, Adekunle M Adesina, Shan Chen, Yi-Chien Lee, , Brendan Lee, James R Lupski, Christine M Eng, Fan Xia, Yaping Yang, Brett H Graham, Paolo Moretti,

De novo variants in DDX3X account for 1-3% of unexplained intellectual disability (ID) cases and are amongst the most common causes of ID especially in females. Forty-seven patients (44 females, 3 males) have been described. We identified 31 additional individuals carrying 29 unique DDX3X variants, including 30 postnatal individuals with ... Read more >>

Ann Clin Transl Neurol (Annals of clinical and translational neurology)
[2018, 5(10):1277-1285]

Cited: 1 time

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The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature.

Juliette Piard, Lara Hawkes, Mathieu Milh, Laurent Villard, Renato Borgatti, Romina Romaniello, Melanie Fradin, Yline Capri, Delphine Héron, Marie-Christine Nougues, Caroline Nava, Oana Tarta Arsene, Debbie Shears, John Taylor, Alistair Pagnamenta, Jenny C Taylor, Yoshimi Sogawa, Diana Johnson, Helen Firth, Pradeep Vasudevan, Gabriela Jones, Marie-Ange Nguyen-Morel, Tiffany Busa, Agathe Roubertie, Myrthe van den Born, Elise Brischoux-Boucher, Michel Koenig, Cyril Mignot, , Usha Kini, Christophe Philippe,

PURPOSE:Germline WWOX pathogenic variants have been associated with disorder of sex differentiation (DSD), spinocerebellar ataxia (SCA), and WWOX-related epileptic encephalopathy (WOREE syndrome). We review clinical and molecular data on WWOX-related disorders, further describing WOREE syndrome and phenotype/genotype correlations. METHODS:We report clinical and molecular findings in 20 additional patients from 18 ... Read more >>

Genet. Med. (Genetics in medicine : official journal of the American College of Medical Genetics)
[2019, 21(6):1308-1318]

Cited: 2 times

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Reply: ATAD1 encephalopathy and stiff baby syndrome: a recognizable clinical presentation.

Juliette Piard, George K Essien Umanah, Frederike L Harms, Leire Abalde-Atristain, Daniel Amram, Melissa Chang, Rong Chen, Malik Alawi, Vincenzo Salpietro, Mark I Rees, Seo-Kyung Chung, Henry Houlden, Alain Verloes, Ted M Dawson, Valina L Dawson, Lionel Van Maldergem, Kerstin Kutsche,

Brain (Brain : a journal of neurology)
[2018, 141(6):e50]

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Autosomal-dominant early-onset spastic paraparesis with brain calcification due to IFIH1 gain-of-function.

Lyse Ruaud, Gillian I Rice, Christelle Cabrol, Juliette Piard, Mathieu Rodero, Lien van Eyk, Elise Boucher-Brischoux, Alain Maertens de Noordhout, Ricardo Maré, Emmanuel Scalais, Fernand Pauly, François-Guillaume Debray, William Dobyns, Carolina Uggenti, Ji Woo Park, Sun Hur, John H Livingston, Yanick J Crow, Lionel Van Maldergem,

We describe progressive spastic paraparesis in two male siblings and the daughter of one of these individuals. Onset of disease occurred within the first decade, with stiffness and gait difficulties. Brisk deep tendon reflexes and extensor plantar responses were present, in the absence of intellectual disability or dermatological manifestations. Cerebral ... Read more >>

Hum. Mutat. (Human mutation)
[2018, 39(8):1076-1080]

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A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy.

Juliette Piard, George K Essien Umanah, Frederike L Harms, Leire Abalde-Atristain, Daniel Amram, Melissa Chang, Rong Chen, Malik Alawi, Vincenzo Salpietro, Mark I Rees, Seo-Kyung Chung, Henry Houlden, Alain Verloes, Ted M Dawson, Valina L Dawson, Lionel Van Maldergem, Kerstin Kutsche,

Members of the AAA+ superfamily of ATPases are involved in the unfolding of proteins and disassembly of protein complexes and aggregates. ATAD1 encoding the ATPase family, AAA+ domain containing 1-protein Thorase plays an important role in the function and integrity of mitochondria and peroxisomes. Postsynaptically, Thorase controls the internalization of ... Read more >>

Brain (Brain : a journal of neurology)
[2018, 141(3):651-661]

Cited: 7 times

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Phenotypic expansion in DDX3X – a common cause of intellectual disability in females

Xia Wang, Jill Rosenfeld, Carlos Bacino, Fernando Scaglia, LaDonna Immken, Jill Harris, Scott Hickey, Theresa Mosher, Anne Slavotinek, Jing Zhang, Joke Beuten, Magalie Leduc, Weimin He, Francesco Vetrini, Magdalena Walkiewicz, Weimin Bi, Rui Xiao, Yunru Shao, Alper Gezdirici, Yunyun Jiang, Adam Hansen, Davut Pehlivan, Juliette Piard, Donna Muzny, Neil Hanchard, John Belmont, Lionel van Maldergem, Richard Gibbs, Mohammad Eldomery, Zeynep Akdemir, Tamar Harel, Jennifer Posey, Adekunle Adesina, Shan Chen, Brendan Lee, James Lupski, Christine Eng, Fan Xia, Yaping Yang, Brett Graham, Paolo Moretti, ,

Abstract De novo variants in DDX3X account for 1-3% of unexplained intellectual disability (ID), one of the most common causes of ID, in females. Forty-seven patients (44 females, 3 males) have been described. We identified 29 additional individuals carrying 27 unique DDX3X variants in the setting of complex clinical presentations ... Read more >>

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FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis.

Juliette Piard, Jia-Hua Hu, Philippe M Campeau, Sylwia Rzonca, Hilde Van Esch, Elizabeth Vincent, Mei Han, Elsa Rossignol, Jennifer Castaneda, Jamel Chelly, Cindy Skinner, Vera M Kalscheuer, Ruihua Wang, Emmanuelle Lemyre, Joanna Kosinska, Piotr Stawinski, Jerzy Bal, Dax A Hoffman, Charles E Schwartz, Lionel Van Maldergem, Tao Wang, Paul F Worley,

FRMPD4 (FERM and PDZ Domain Containing 4) is a neural scaffolding protein that interacts with PSD-95 to positively regulate dendritic spine morphogenesis, and with mGluR1/5 and Homer to regulate mGluR1/5 signaling. We report the genetic and functional characterization of 4 FRMPD4 deleterious mutations that cause a new X-linked intellectual disability ... Read more >>

Hum. Mol. Genet. (Human molecular genetics)
[2018, 27(4):589-600]

Cited: 1 time

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Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1.

Juliette Piard, James Lespinasse, Marketa Vlckova, Martin A Mensah, Sorin Iurian, Martina Simandlova, Marcela Malikova, Oliver Bartsch, Massimiliano Rossi, Marion Lenoir, Frédérique Nugues, Stefan Mundlos, Uwe Kornak, Philip Stanier, Sérgio B Sousa, Lionel Van Maldergem,

The cutis laxa syndromes are multisystem disorders that share loose redundant inelastic and wrinkled skin as a common hallmark clinical feature. The underlying molecular defects are heterogeneous and 13 different genes have been involved until now, all of them being implicated in elastic fiber assembly. We provide here molecular and ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2018, 176(3):668-675]

Cited: 2 times

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Baller-Gerold Syndrome

Lionel Van Maldergem, Juliette Piard, Lidia Larizza, Lisa L Wang,

CLINICAL CHARACTERISTICS:Baller-Gerold syndrome (BGS) can be suspected at birth in an infant with craniosynostosis and upper limb abnormality. The coronal suture is most commonly affected; the metopic, lambdoid, and sagittal sutures may also be involved alone or in combination. Upper limb abnormality can include a combination of thumb hypo- or ... Read more >>

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CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays.

Christian Windpassinger, Juliette Piard, Carine Bonnard, Majid Alfadhel, Shuhui Lim, Xavier Bisteau, Stéphane Blouin, Nur'Ain B Ali, Alvin Yu Jin Ng, Hao Lu, Sumanty Tohari, S Zakiah A Talib, Noémi van Hul, Matias J Caldez, Lionel Van Maldergem, Gökhan Yigit, Hülya Kayserili, Sameh A Youssef, Vincenzo Coppola, Alain de Bruin, Lino Tessarollo, Hyungwon Choi, Verena Rupp, Katharina Roetzer, Paul Roschger, Klaus Klaushofer, Janine Altmüller, Sudipto Roy, Byrappa Venkatesh, Rudolf Ganger, Franz Grill, Farid Ben Chehida, Bernd Wollnik, Umut Altunoglu, Ali Al Kaissi, Bruno Reversade, Philipp Kaldis,

In five separate families, we identified nine individuals affected by a previously unidentified syndrome characterized by growth retardation, spine malformation, facial dysmorphisms, and developmental delays. Using homozygosity mapping, array CGH, and exome sequencing, we uncovered bi-allelic loss-of-function CDK10 mutations segregating with this disease. CDK10 is a protein kinase that partners ... Read more >>

Am. J. Hum. Genet. (American journal of human genetics)
[2017, 101(3):391-403]

Cited: 4 times

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Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice.

Lara De Tomasi, Pierre David, Camille Humbert, Flora Silbermann, Christelle Arrondel, Frédéric Tores, Stéphane Fouquet, Audrey Desgrange, Olivier Niel, Christine Bole-Feysot, Patrick Nitschké, Joëlle Roume, Marie-Pierre Cordier, Christine Pietrement, Bertrand Isidor, Philippe Khau Van Kien, Marie Gonzales, Marie-Hélène Saint-Frison, Jelena Martinovic, Robert Novo, Juliette Piard, Christelle Cabrol, Ishwar C Verma, Ratna Puri, Hubert Journel, Jacqueline Aziza, Laurent Gavard, Marie-Hélène Said-Menthon, Laurence Heidet, Sophie Saunier, Cécile Jeanpierre,

Congenital anomalies of the kidney and urinary tract (CAKUT) constitute a major cause of chronic kidney disease in children and 20% of prenatally detected anomalies. CAKUT encompass a spectrum of developmental kidney defects, including renal agenesis, hypoplasia, and cystic and non-cystic dysplasia. More than 50 genes have been reported as ... Read more >>

Am. J. Hum. Genet. (American journal of human genetics)
[2017, 101(5):803-814]

Cited: 2 times

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De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy.

Iris M de Lange, Katherine L Helbig, Sarah Weckhuysen, Rikke S Møller, Milen Velinov, Natalia Dolzhanskaya, Eric Marsh, Ingo Helbig, Orrin Devinsky, Sha Tang, Heather C Mefford, Candace T Myers, Wim van Paesschen, Pasquale Striano, Koen van Gassen, Marjan van Kempen, Carolien G F de Kovel, Juliette Piard, Berge A Minassian, Marjan M Nezarati, André Pessoa, Aurelia Jacquette, Bridget Maher, Simona Balestrini, Sanjay Sisodiya, Marie Therese Abi Warde, Anne De St Martin, Jamel Chelly, , Ruben van 't Slot, Lionel Van Maldergem, Eva H Brilstra, Bobby P C Koeleman,

BACKGROUND:Mutations in the KIAA2022 gene have been reported in male patients with X-linked intellectual disability, and related female carriers were unaffected. Here, we report 14 female patients who carry a heterozygous de novo KIAA2022 mutation and share a phenotype characterised by intellectual disability and epilepsy. METHODS:Reported females were selected for ... Read more >>

J. Med. Genet. (Journal of medical genetics)
[2016, 53(12):850-858]

Cited: 10 times

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POLG2 deficiency causes adult-onset syndromic sensory neuropathy, ataxia and parkinsonism.

Lionel Van Maldergem, Arnaud Besse, Boel De Paepe, Emma L Blakely, Vivek Appadurai, Margaret M Humble, Juliette Piard, Kate Craig, Langping He, Pierre Hella, François-Guillaume Debray, Jean-Jacques Martin, Marion Gaussen, Patrice Laloux, Giovanni Stevanin, Rudy Van Coster, Robert W Taylor, William C Copeland, Eric Mormont, Penelope E Bonnen,

Mitochondrial dysfunction plays a key role in the pathophysiology of neurodegenerative disorders such as ataxia and Parkinson's disease. We describe an extended Belgian pedigree where seven individuals presented with adult-onset cerebellar ataxia, axonal peripheral ataxic neuropathy, and tremor, in variable combination with parkinsonism, seizures, cognitive decline, and ophthalmoplegia. We sought ... Read more >>

Ann Clin Transl Neurol (Annals of clinical and translational neurology)
[2017, 4(1):4-14]

Cited: 4 times

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Clinical features of SMARCA2 duplication overlap with Coffin-Siris syndrome.

Noriko Miyake, Ghada Abdel-Salam, Takanori Yamagata, Maha M Eid, Hitoshi Osaka, Nobuhiko Okamoto, Amal M Mohamed, Takahiro Ikeda, Hanan H Afifi, Juliette Piard, Lionel van Maldergem, Takeshi Mizuguchi, Satoko Miyatake, Yoshinori Tsurusaki, Naomichi Matsumoto,

Coffin-Siris syndrome is a rare congenital malformation and intellectual disability syndrome. Mutations in at least seven genes have been identified. Here, we performed copy number analysis in 37 patients with features of CSS in whom no causative mutations were identified by exome sequencing. We identified a patient with a 9p24.3-p22.2 ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2016, 170(10):2662-2670]

Cited: 5 times

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Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations.

Sandra Mercier, Sébastien Küry, Emmanuelle Salort-Campana, Armelle Magot, Uchenna Agbim, Thomas Besnard, Nathalie Bodak, Chantal Bou-Hanna, Flora Bréhéret, Perrine Brunelle, Florence Caillon, Brigitte Chabrol, Valérie Cormier-Daire, Albert David, Bruno Eymard, Laurence Faivre, Dominique Figarella-Branger, Emmanuelle Fleurence, Mythily Ganapathi, Romain Gherardi, Alice Goldenberg, Antoine Hamel, Jeanine Igual, Alan D Irvine, Dominique Israël-Biet, Caroline Kannengiesser, Christian Laboisse, Cédric Le Caignec, Jean-Yves Mahé, Stéphanie Mallet, Stuart MacGowan, Maeve A McAleer, Irwin McLean, Cécile Méni, Arnold Munnich, Jean-Marie Mussini, Peter L Nagy, Jeffrey Odel, Grainne M O'Regan, Yann Péréon, Julie Perrier, Juliette Piard, Eve Puzenat, Jacinda B Sampson, Frances Smith, Nadem Soufir, Kurenai Tanji, Christel Thauvin, Christina Ulane, Rosemarie M Watson, Nonhlanhla P Khumalo, Bongani M Mayosi, Sébastien Barbarot, Stéphane Bézieau,

Hereditary Fibrosing Poikiloderma (HFP) with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP [MIM 615704]) is a very recently described entity of syndromic inherited poikiloderma. Previously by using whole exome sequencing in five families, we identified the causative gene, FAM111B (NM_198947.3), the function of which is still unknown. Our objective in ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2015, 10:135]

Cited: 4 times

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