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51

Nucleolar perichromatin granules induced by dichlorobenzimidazole riboside

Puvion, E., Bachellerie, J.-P., Burglen, M.-J.

Journal:

Journal of Ultrastructure Research

Year:

1979

Language:

english

File:

PDF, 14.63 MB

english, 1979

52

Approche moléculaire d'une dégénérescence du motoneurone spinal : les maladies de Werdnig-Hoffmann et de Kugelberg-Welander

Bertrandy, Solange, Lefebvre, Suzie, Burlet, Philippe, Bürglen, Lydie, Clermont, Olivier, Viollet, Louis, Munnich, Arnold, Melki, Judith

Journal:

Annales de l'Institut Pasteur / Actualités

Year:

1996

File:

PDF, 573 KB

1996

53

Phénotype clinique reconnaissable des neurodegeneration with brain iron accumulation (NBIA) liées aux mutations du gène C19ORF12

Afenjar, A., Billette De Villemeur, T., Chabrol, B., Gras, D., Legall, A., Mochel, F., Sedel, F., Rodriguez, D., Burglen, L.

Journal:

Archives de Pédiatrie

Year:

2013

File:

PDF, 78 KB

2013

54

Early-onset or rapidly progressive scoliosis in children: Check the eyes!

Kurian, M., Megevand, C., De Haller, R., Merlini, L., Boex, C., Truffert, A., Kaelin, A., Burglen, L., Korff, C.M.

Journal:

European Journal of Paediatric Neurology

Year:

2013

Language:

english

File:

PDF, 899 KB

english, 2013

55

PP8.7 – 2132 Acute necrotizing Encephalopathy (ANE) caused by mutation in RANBP2: three episodes in two affected family members

Amsallem, D, Pâris, C, Mougey, C, Bévalot, J, Rodriguez, D, Burglen, L

Journal:

European Journal of Paediatric Neurology

Year:

2013

Language:

english

File:

PDF, 63 KB

english, 2013

56

O52 – 2063 Spectrum of cerebellar and anterior horn cell degeneration caused by EXOSC3 mutations

Burglen, L, Nguyen, S, Cances, C, Cuisset, JM, Julia, S, Metreau, J, Lion-François, L, Legall, A, Amsallem, D, Gelot, A, Billette de Villemeur, T, Rodriguez, D

Journal:

European Journal of Paediatric Neurology

Year:

2013

Language:

english

File:

PDF, 62 KB

english, 2013

57

P237 – 1930 EAST syndrome (Epilepsia Ataxia Sensorineural Deafness Tubulopathy) caused by mutation in KCNJ10: an underdiagnosed illness?

Dorison, N, Kleta, R, Freudenthal, B, Bockenhauer, D, Burglen, L, Billette de Villemeur, T

Journal:

European Journal of Paediatric Neurology

Year:

2013

Language:

english

File:

PDF, 62 KB

english, 2013

58

Novel mutation in SLC9A6 gene in a patient with Christianson syndrome and retinitis pigmentosum

Mignot, Cyril, Héron, Delphine, Bursztyn, Joseph, Momtchilova, Marta, Mayer, Michèle, Whalen, Sandra, Legall, Anne, Billette de Villemeur, Thierry, Burglen, Lydie

Journal:

Brain and Development

Year:

2013

Language:

english

File:

PDF, 552 KB

english, 2013

59

Familial acute necrotizing encephalopathy due to mutation in the RANBP2 gene

Denier, Christian, Balu, Laurent, Husson, Béatrice, Nasser, Ghaidaa, Burglen, Lydie, Rodriguez, Diana, Labauge, Pierre, Chevret, Laurent

Journal:

Journal of the Neurological Sciences

Year:

2014

Language:

english

File:

PDF, 543 KB

english, 2014

60

Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations

Dupre, T., Vuillaumier-Barrot, S., Chantret, I., Yaye, H. S., Le Bizec, C., Afenjar, A., Altuzarra, C., Barnerias, C., Burglen, L., de Lonlay, P., Feillet, F., Napuri, S., Seta, N., Moore, S. E. H.

Journal:

Journal of Medical Genetics

Year:

2010

Language:

english

File:

PDF, 609 KB

english, 2010

61

Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability

Thevenon, J., Lopez, E., Keren, B., Heron, D., Mignot, C., Altuzarra, C., Beri-Dexheimer, M., Bonnet, C., Magnin, E., Burglen, L., Minot, D., Vigneron, J., Morle, S., Anheim, M., Charles, P., Brice, A

Journal:

Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 697 KB

english, 2012

62

Síndrome Schinzel-Giedion: nueva mutación en SETBP1

López-González, V., Domingo-Jiménez, M.R., Burglen, L., Ballesta-Martínez, M.J., Whalen, S., Piñero-Fernández, J.A., Guillén-Navarro, E.

Journal:

Anales de Pediatría

Year:

2015

File:

PDF, 1.06 MB

2015

63

High NPHP1 and NPHP6 Mutation Rate in Patients with Joubert Syndrome and Nephronophthisis: Potential Epistatic Effect of NPHP6 and AHI1 Mutations in Patients with NPHP1 Mutations

Tory, K., Lacoste, T., Burglen, L., Moriniere, V., Boddaert, N., Macher, M.-A., Llanas, B., Nivet, H., Bensman, A., Niaudet, P., Antignac, C., Salomon, R., Saunier, S.

Journal:

Journal of the American Society of Nephrology

Year:

2007

Language:

english

File:

PDF, 203 KB

english, 2007

64

Megalencephalic Leukoencephalopathy with Subcortical Cysts in a Tunisian Boy

Tinsa, F., Farid, O., Douira, W., Rodriguez, D., Burglen, L., Boussetta, K., Bousnina, S.

Journal:

Journal of Child Neurology

Year:

2009

Language:

english

File:

PDF, 213 KB

english, 2009

65

Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease.

Burlet, P, Burglen, L, Clermont, O, Lefebvre, S, Viollet, L, Munnich, A, Melki, J

Journal:

Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 573 KB

english, 1996

66

Myhre syndrome: new reports, review, and differential diagnosis

Journal:

Journal of Medical Genetics

Year:

2003

Language:

english

File:

PDF, 1.84 MB

english, 2003

67

De novo deletions in spinal muscular atrophy: implications for genetic counselling.

Raclin, V, Veber, P S, Burglen, L, Munnich, A, Melki, J

Journal:

Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 627 KB

english, 1997

68

De novo and inherited deletions of the 5q13 region in spinal muscular atrophies

Melki, J, Lefebvre, S, Burglen, L, Burlet, P, Clermont, O, Millasseau, P, Reboullet, S, Benichou, B, Zeviani, M, Le Paslier, D, et, al.

Journal:

Year:

1994

Language:

english

File:

PDF, 1.27 MB

english, 1994

69

Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome

El Chehadeh, S., Aral, B., Gigot, N., Thauvin-Robinet, C., Donzel, A., Delrue, M.-A., Lacombe, D., David, A., Burglen, L., Philip, N., Moncla, A., Cormier-Daire, V., Rio, M., Edery, P., Verloes, A., B

Journal:

Journal of Medical Genetics

Year:

2010

Language:

english

File:

PDF, 103 KB

english, 2010

70

GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia

Coutelier, M., Burglen, L., Mundwiller, E., Abada-Bendib, M., Rodriguez, D., Chantot-Bastaraud, S., Rougeot, C., Cournelle, M.-A., Milh, M., Toutain, A., Bacq, D., Meyer, V., Afenjar, A., Deleuze, J.-

Journal:

Year:

2015

Language:

english

File:

PDF, 900 KB

english, 2015

71

Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome

Yuan, Bo, Harel, Tamar, Gu, Shen, Liu, Pengfei, Burglen, Lydie, Chantot-Bastaraud, Sandra, Gelowani, Violet, Beck, Christine R., Carvalho, Claudia M.B., Cheung, Sau Wai, Coe, Andrew, Malan, Valérie, M

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 2.09 MB

english, 2015

72

MFN2, a new gene responsible for mitochondrial DNA depletion

Renaldo, F., Amati-Bonneau, P., Slama, A., Romana, C., Forin, V., Doummar, D., Barnerias, C., Bursztyn, J., Mayer, M., Khouri, N., Billette de Villemeur, T., Burglen, L., Reynier, P., Bernabe Gelot, A

Journal:

Year:

2012

Language:

english

File:

PDF, 360 KB

english, 2012

73

Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome

Gerber, Sylvie, Alzayady, Kamil J., Burglen, Lydie, Brémond-Gignac, Dominique, Marchesin, Valentina, Roche, Olivier, Rio, Marlène, Funalot, Benoit, Calmon, Raphaël, Durr, Alexandra, Gil-da-Silva-Lopes

Journal:

The American Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 1.32 MB

english, 2016

74

Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutières syndrome

Tonduti, Davide, Orcesi, Simona, Jenkinson, Emma M., Dorboz, Imen, Renaldo, Florence, Panteghini, Celeste, Rice, Gillian I., Henneke, Marco, Livingston, John H., Elmaleh, Monique, Burglen, Lydie, Will

Journal:

European Journal of Paediatric Neurology

Year:

2016

Language:

english

File:

PDF, 1.17 MB

english, 2016

75

A Novel Homozygous TBC 1 D 24 Mutation Causing Multifocal Myoclonus With Cerebellar Involvement

Doummar, Diane, Mignot, Cyril, Apartis, Emmanuelle, Villard, Laurent, Rodriguez, Diana, Chantot-Bastauraud, Sandra, Burglen, Lydie

Journal:

Movement Disorders

Year:

2015

Language:

english

File:

PDF, 307 KB

english, 2015

76

Craniofacial Phenotype in the Branchio-Oculo-Facial Syndrome: Four Case Reports

Galliani, Eva, Burglen, Lydie, Kadlub, Natacha, Just, Walter, Sznajer, Yves, de Villemeur, Thierry Billette, Soupre, Véronique, Picard, Arnaud, Vazquez, Marie-Paule

Journal:

The Cleft Palate-Craniofacial Journal

Year:

2012

Language:

english

File:

PDF, 1.42 MB

english, 2012

77

De novo mutations in KIF1A in 2 patients with congenital ataxia

Afenjar, Alexandra, Billette de Villemeur, Thierry, Mignot, Cyril, Guet, Agnes, Keren, Boris, Valence, Stephanie, Garel, Catherine, Burglen, Lydie

Journal:

European Journal of Paediatric Neurology

Year:

2017

Language:

english

File:

PDF, 42 KB

english, 2017

78

Extremely severe vermis hypoplasia: a good clue for pontocerebellar hypoplasia type 8 diagnosis

Haye, D., Perrin, L., Valence, S., Rodriguez, D., Burglen, L.

Journal:

European Journal of Paediatric Neurology

Year:

2017

Language:

english

File:

PDF, 42 KB

english, 2017

79

New insights in genetic diagnosis of congenital/very early-onset ataxia using new-generation sequencing

Burglen, L., Haye, D., Valence, S., Afenjar, A., Chantot-Bastaraud, S., Rougeot, C., Riquet, A., Garel, C., Rodriguez, D.

Journal:

European Journal of Paediatric Neurology

Year:

2017

Language:

english

File:

PDF, 41 KB

english, 2017

80

Diagnostic approach and therapeutic management of children affected by congenital cerebellar disorders

Belleville Goffeney, J., Paris, C., Bernard, E., Boucher, E., Billon Grand, N.C., Pastor Harper, D., Ridley, A., Burglen, L., Amsallem, D.

Journal:

European Journal of Paediatric Neurology

Year:

2017

Language:

english

File:

PDF, 39 KB

english, 2017

81

Using medical exome sequencing to identify the causes of neurodevelopmental disorders: experience of two clinical units and 216 patients

Chérot, E., Keren, B., Dubourg, C., Carré, W., Fradin, M., Lavillaureix, A., Afenjar, A., Burglen, L., Whalen, S., Charles, P., Marey, I., Heide, S., Jacquette, A., Heron, D., Doummar, D., Rodriguez,

Journal:

Clinical Genetics

Year:

2017

File:

PDF, 1.05 MB

2017

82

Natural history of Alexander disease: A multicentric survey of 75 patients (reporting clinical, radiological and genetic characteristics in.)

Renaldo, F., Mignot, C., Tonduti, D., Doummar, D., Bertini, E., Paquay, S., Abuawad, M., Dorboz, I., Samaan, S., Elmaleh, M., Chalard, F., Boespflug-Tanguy, O., Burglen, L., Rodriguez, D.

Journal:

European Journal of Paediatric Neurology

Year:

2017

Language:

english

File:

PDF, 46 KB

english, 2017

83

Non progressive congenital ataxia or early onset slowly progressive ataxia? Identification of novel compound heterozygous variants in MRE11A (ataxia telangiectasia like disorder) in one patient confirms the clinical utility of exome sequencing

Valence, Stéphanie, Billette de Villemeur, Thierry, Stoppa Lyonnet, Dominique, Fievet, Alice, Rodriguez, Diana, Burglen, Lydie

Journal:

European Journal of Paediatric Neurology

Year:

2017

Language:

english

File:

PDF, 56 KB

english, 2017

84

Prenatal Imaging Findings of Pontine Tegmental Cap Dysplasia: Report of Four Cases

Blondiaux, Eléonore, Valence, Stéphanie, Friszer, Stéphanie, Rodriguez, Diana, Burglen, Lydie, Ducou le Pointe, Hubert, Blouet, Marie, Garel, Catherine

Journal:

Fetal Diagnosis and Therapy

Year:

2017

Language:

english

File:

PDF, 265 KB

english, 2017

85

Monoamine neurotransmitters and movement disorders in children and adults

Doummar, D., Moussa, F., Nougues, M.-C., Ravelli, C., Louha, M., Whalen, S., Burglen, L., Rodriguez, D., Billette de Villemeur, T.

Journal:

Revue Neurologique

Year:

2018

Language:

english

File:

PDF, 762 KB

english, 2018

86

SHH medulloblastoma in a young adult with a TCF4 germline pathogenic variation

Blanluet, Maud, Masliah-Planchon, Julien, Giurgea, Irina, Bielle, Franck, Girard, Elodie, Andrianteranagna, Mamy, Clemenceau, Stéphane, Bourneix, Christine, Burglen, Lydie, Doummar, Diane, Rapinat, Au

Journal:

Acta Neuropathologica

Year:

2019

Language:

english

File:

PDF, 605 KB

english, 2019

87

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

Salpietro, Vincenzo, Dixon, Christine L., Guo, Hui, Bello, Oscar D., Vandrovcova, Jana, Efthymiou, Stephanie, Maroofian, Reza, Heimer, Gali, Burglen, Lydie, Valence, Stephanie, Torti, Erin, Hacke, Mor

Journal:

Nature Communications

Year:

2019

Language:

english

File:

PDF, 3.43 MB

english, 2019

88

DNA repair functional analyses of NBN hypomorphic variants associated with NBN‐related infertility

Fiévet, Alice, Bellanger, Dorine, Zahed, Laila, Burglen, Lydie, Derrien, Anne‐Céline, Dubois d'Engien, Catherine, Lespinasse, James, Parfait, Béatrice, Pedespan, Jean‐Michel, Rieunier, Guillaume, Stop

Journal:

Year:

2019

Language:

english

File:

PDF, 642 KB

english, 2019

89

Earlyâonset Nucleotide Excision Repair disorders with neurological impairment: clues for early diagnosis and prognostic counselling

Baer, Sarah, Obringer, Cathy, Julia, Sophie, Chelly, Jameleddine, Capri, Yline, Gras, Domitille, Baujat, GeneviÃ¨ve, Felix, TÃªmis Maria, Doray, Berenice, Pozo, Jaime Sanchez, Ramos, Lina M., Burglen,

Journal:

Clinical Genetics

Year:

2020

File:

PDF, 1.73 MB

2020

90

Congenital immobility and stiffness related to biallelic ATAD1 variants

Bunod, Roxane, Doummar, Diane, Whalen, Sandra, Keren, Boris, Chantot-Bastaraud, Sandra, Maincent, Kim, Villy, Marie-Charlotte, Mayer, MichÃ¨le, Rodriguez, Diana, Burglen, Lydie, LÃ©ger, Pierre-Louis,

Journal:

Neurology: Genetics

Year:

2020

File:

PDF, 363 KB

2020

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