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Search life-sciences literature (45,104,145 articles, preprints and more)

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Biallelic variants in ERLIN1: a series of 13 individuals with spastic paraparesis.
Cogan G, Zaki MS, Issa M, Keren B, Guillaud-Bataille M, Renaldo F, Isapof A, Lallemant P, Stevanin G, Guillot-Noel L, Courtin T, Buratti J, Freihuber C, Gleeson JG, Howarth R, Durr A, de Sainte Agathe JM, Mignot C
Hum Genet, 143(11):1353-1362, 04 Oct 2024
Cited by: 0 articles | PMID: 39367212
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Frequency and clinical relevance of MOG-antibodies in CSF in pediatric patients with MOG antibody-associated diseases.
Galati G, Pique J, Horellou P, Leroy C, Poinsot M, Marignier R, Giorgi L, Deiva K, Kidbiosep cohort and MIRCEM network
Eur J Paediatr Neurol, 51:79-83, 28 May 2024
Cited by: 0 articles | PMID: 38880066
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Juvenile neuropsychiatric systemic lupus erythematosus: A specific clinical phenotype and proposal of a probability score.
Labouret M, Trebossen V, Ntorkou A, Bartoli S, Aubart M, Auvin S, Bader-Meunier B, Baudouin V, Corseri O, Dingulu G, Ducrocq C, Dumaine C, Elmaleh M, Fabien N, Faye A, Hau I, Hentgen V, Kwon T, Meinzer U, [...] Melki I
Lupus, 33(4):328-339, 05 Feb 2024
Cited by: 1 article | PMID: 38315109
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Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency Syndrome.
Mochel F, Gras D, Luton MP, Nizou M, Giovannini D, Delattre C, Aubart M, Barth M, De Saint-Martin A, Doummar D, Essid N, Garros A, Le Camus CH, Hoebeke C, The Tich SN, Perivier M, Rivera S, Rolland A, Roubertie A, [...] MetaGlut1 Study Group
Neurology, 100(23):e2360-e2373, 19 Apr 2023
Cited by: 2 articles | PMID: 37076312 | PMCID: PMC10256121
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Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.
Sheppard SE, Bryant L, Wickramasekara RN, Vaccaro C, Robertson B, Hallgren J, Hulen J, Watson CJ, Faundes V, Duffourd Y, Lee P, Simon MC, de la Cruz X, Padilla N, Flores-Mendez M, Akizu N, Smiler J, Pellegrino Da Silva R, Li D, [...] Stessman HAF
Sci Adv, 9(10):eade1463, 10 Mar 2023
Cited by: 3 articles | PMID: 36897941 | PMCID: PMC10005179
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Juvenile Neuropsychiatric Systemic Lupus Erythematosus: Identification of Novel Central Neuroinflammation Biomarkers.
Labouret M, Costi S, Bondet V, Trebossen V, Le Roux E, Ntorkou A, Bartoli S, Auvin S, Bader-Meunier B, Baudouin V, Corseri O, Dingulu G, Ducrocq C, Dumaine C, Elmaleh M, Fabien N, Faye A, Hau I, Hentgen V, [...] Melki I
J Clin Immunol, 43(3):615-624, 05 Dec 2022
Cited by: 8 articles | PMID: 36469191 | PMCID: PMC9957825
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Mortality and Neurologic Sequelae in Influenza-Associated Encephalopathy: Retrospective Multicenter PICU Cohort in France.
Cleuziou P, Renaldo F, Renolleau S, Javouhey E, Tissieres P, Léger PL, Bergounioux J, Desguerre I, Dauger S, Levy M, Groupe Francophone de Réanimation et Urgences Pédiatriques (GFRUP)
Pediatr Crit Care Med, 22(11):e582-e587, 01 Nov 2021
Cited by: 3 articles | PMID: 33950890
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Area Postrema Syndrome as the Initial Presentation of Alexander Disease.
Renaldo F, Chalard F, Valence S, Burglen L, Rodriguez D
Neurology, 97(11):548-549, 07 Jul 2021
Cited by: 1 article | PMID: 34233935
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Enlargement of the Optic Chiasm: A Novel Imaging Finding in Glutaric Aciduria Type 1.
Ntorkou AA, Daire J, Renaldo F, Doummar D, Alison M, Schiff M, Elmaleh-Bergès M
AJNR Am J Neuroradiol, 42(9):1722-1726, 08 Jul 2021
Cited by: 1 article | PMID: 34244130 | PMCID: PMC8423046
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Differential Expression of Interferon-Alpha Protein Provides Clues to Tissue Specificity Across Type I Interferonopathies.
Lodi L, Melki I, Bondet V, Seabra L, Rice GI, Carter E, Lepelley A, Martin-Niclós MJ, Al Adba B, Bader-Meunier B, Barth M, Blauwblomme T, Bodemer C, Boespflug-Tanguy O, Dale RC, Desguerre I, Ducrocq C, Dulieu F, Dumaine C, [...] Frémond ML
J Clin Immunol, 41(3):603-609, 07 Jan 2021
Cited by: 11 articles | PMID: 33411153
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CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients.
Le Roux M, Barth M, Gueden S, Desbordes de Cepoy P, Aeby A, Vilain C, Hirsch E, de Saint Martin A, Portes VD, Lesca G, Riquet A, Chaton L, Villeneuve N, Villard L, Cances C, Valton L, Renaldo F, Vermersch AI, Altuzarra C, [...] Van Bogaert P
Eur J Paediatr Neurol, 33:75-85, 26 May 2021
Cited by: 24 articles | PMID: 34102571
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Catatonia in a patient with Aicardi-Goutières syndrome efficiently treated with immunoadsorption.
Ayrolles A, Ellul P, Renaldo F, Boespflug-Tanguy O, Delorme R, Drunat S, Elmaleh-Bergès M, Kwon T, Rozenberg F, Bondet V, Duffy D, Crow YJ, Melki I
Schizophr Res, 222:484-486, 19 Jun 2020
Cited by: 1 article | PMID: 32571621
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Dramatic efficacy of ofatumumab in refractory pediatric-onset AQP4-IgG neuromyelitis optica spectrum disorder.
Maillart E, Renaldo F, Papeix C, Deiva K, Bonheur J, Kwon T, Boespflug-Tanguy O, Germanaud D, Marignier R
Neurol Neuroimmunol Neuroinflamm, 7(3):e683, 25 Feb 2020
Cited by: 6 articles | PMID: 32098863 | PMCID: PMC7051209
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Novel POLR1C mutation in RNA polymerase III-related leukodystrophy with severe myoclonus and dystonia.
Kraoua I, Karkar A, Drissi C, Benrhouma H, Klaa H, Samaan S, Renaldo F, Elmaleh M, Ben Hamouda M, Abdelhak S, Boespflug-Tanguy O, Ben Youssef-Turki I, Dorboz I
Mol Genet Genomic Med, 7(9):e914, 31 Jul 2019
Cited by: 8 articles | PMID: 31368241 | PMCID: PMC6732337
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Reverse-Transcriptase Inhibitors in the Aicardi–Goutières Syndrome
Rice GI, Meyzer C, Bouazza N, Hully M, Boddaert N, Semeraro M, Zeef LAH, Rozenberg F, Bondet V, Duffy D, Llibre A, Baek J, Sambe MN, Henry E, Jolaine V, Barnerias C, Barth M, Belot A, Cances C, [...] Crow YJ
N Engl J Med, 379(23):2275-2277, 01 Dec 2018
Cited by: 65 articles | PMID: 30566312
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SLC13A3 variants cause acute reversible leukoencephalopathy and α-ketoglutarate accumulation.
Dewulf JP, Wiame E, Dorboz I, Elmaleh-Bergès M, Imbard A, Dumitriu D, Rak M, Bourillon A, Helaers R, Malla A, Renaldo F, Boespflug-Tanguy O, Vincent MF, Benoist JF, Wevers RA, Schlessinger A, Van Schaftingen E, Nassogne MC, Schiff M
Ann Neurol, 85(3):385-395, 29 Jan 2019
Cited by: 16 articles | PMID: 30635937
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Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation.
Dorboz I, Dumay-Odelot H, Boussaid K, Bouyacoub Y, Barreau P, Samaan S, Jmel H, Eymard-Pierre E, Cances C, Bar C, Poulat AL, Rousselle C, Renaldo F, Elmaleh-Bergès M, Teichmann M, Boespflug-Tanguy O
Neurol Genet, 4(6):e289, 03 Dec 2018
Cited by: 46 articles | PMID: 30584594 | PMCID: PMC6283457
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Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.
Depienne C, Nava C, Keren B, Heide S, Rastetter A, Passemard S, Chantot-Bastaraud S, Moutard ML, Agrawal PB, VanNoy G, Stoler JM, Amor DJ, Billette de Villemeur T, Doummar D, Alby C, Cormier-Daire V, Garel C, Marzin P, Scheidecker S, [...] Mignot C
Hum Genet, 136(4):463-479, 10 Mar 2017
Cited by: 44 articles | PMID: 28283832 | PMCID: PMC5360844
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MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder.
Heimer G, Kerätär JM, Riley LG, Balasubramaniam S, Eyal E, Pietikäinen LP, Hiltunen JK, Marek-Yagel D, Hamada J, Gregory A, Rogers C, Hogarth P, Nance MA, Shalva N, Veber A, Tzadok M, Nissenkorn A, Tonduti D, Renaldo F, [...] Hayflick SJ
Am J Hum Genet, 99(6):1229-1244, 03 Nov 2016
Cited by: 42 articles | PMID: 27817865 | PMCID: PMC5142118
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Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutières syndrome.
Tonduti D, Orcesi S, Jenkinson EM, Dorboz I, Renaldo F, Panteghini C, Rice GI, Henneke M, Livingston JH, Elmaleh M, Burglen L, Willemsen MA, Chiapparini L, Garavaglia B, Rodriguez D, Boespflug-Tanguy O, Moroni I, Crow YJ
Eur J Paediatr Neurol, 20(4):604-610, 07 Apr 2016
Cited by: 18 articles | PMID: 27091087
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TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients.
Tonduti D, Aiello C, Renaldo F, Dorboz I, Saaman S, Rodriguez D, Fettah H, Elmaleh M, Biancheri R, Barresi S, Boccone L, Orcesi S, Pichiecchio A, Zangaglia R, Maurey H, Rossi A, Boespflug-Tanguy O, Bertini E
Eur J Paediatr Neurol, 20(2):323-330, 28 Nov 2015
Cited by: 20 articles | PMID: 26643067
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Involvement of interstitial telomeric sequences in two new cases of mosaicism for autosomal structural rearrangements.
Lévy J, Receveur A, Jedraszak G, Chantot-Bastaraud S, Renaldo F, Gondry J, Andrieux J, Copin H, Siffroi JP, Portnoï MF
Am J Med Genet A, 167A(2):428-433, 26 Nov 2014
Cited by: 3 articles | PMID: 25428228
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Cystic leukoencephalopathy with cortical dysplasia related to LAMB1 mutations.
Tonduti D, Dorboz I, Renaldo F, Masliah-Planchon J, Elmaleh-Bergès M, Dalens H, Rodriguez D, Boespflug-Tanguy O
Neurology, 84(21):2195-2197, 29 Apr 2015
Cited by: 10 articles | PMID: 25925986
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Insertion of an extra copy of Xq22.2 into 1p36 results in functional duplication of the PLP1 gene in a girl with classical Pelizaeus-Merzbacher disease.
Masliah-Planchon J, Dupont C, Vartzelis G, Trimouille A, Eymard-Pierre E, Gay-Bellile M, Renaldo F, Dorboz I, Pagan C, Quentin S, Elmaleh M, Kotsogianni C, Konstantelou E, Drunat S, Tabet AC, Boespflug-Tanguy O
BMC Med Genet, 16:77, 02 Sep 2015
Cited by: 5 articles | PMID: 26329556 | PMCID: PMC4557901
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Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia.
Crow YJ, Zaki MS, Abdel-Hamid MS, Abdel-Salam G, Boespflug-Tanguy O, Cordeiro NJ, Gleeson JG, Gowrinathan NR, Laugel V, Renaldo F, Rodriguez D, Livingston JH, Rice GI
Neuropediatrics, 45(6):386-393, 22 Sep 2014
Cited by: 47 articles | PMID: 25243380
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1-25 of 29 results

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Search life-sciences literature (45,104,145 articles, preprints and more)

Search results

Biallelic variants in ERLIN1: a series of 13 individuals with spastic paraparesis.

Frequency and clinical relevance of MOG-antibodies in CSF in pediatric patients with MOG antibody-associated diseases.

Juvenile neuropsychiatric systemic lupus erythematosus: A specific clinical phenotype and proposal of a probability score.

Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency Syndrome.

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.

Juvenile Neuropsychiatric Systemic Lupus Erythematosus: Identification of Novel Central Neuroinflammation Biomarkers.

Mortality and Neurologic Sequelae in Influenza-Associated Encephalopathy: Retrospective Multicenter PICU Cohort in France.

Area Postrema Syndrome as the Initial Presentation of Alexander Disease.

Enlargement of the Optic Chiasm: A Novel Imaging Finding in Glutaric Aciduria Type 1.

Differential Expression of Interferon-Alpha Protein Provides Clues to Tissue Specificity Across Type I Interferonopathies.

CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients.

Catatonia in a patient with Aicardi-Goutières syndrome efficiently treated with immunoadsorption.

Dramatic efficacy of ofatumumab in refractory pediatric-onset AQP4-IgG neuromyelitis optica spectrum disorder.

Novel POLR1C mutation in RNA polymerase III-related leukodystrophy with severe myoclonus and dystonia.

Reverse-Transcriptase Inhibitors in the Aicardi–Goutières Syndrome

SLC13A3 variants cause acute reversible leukoencephalopathy and α-ketoglutarate accumulation.

Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation.

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.

MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder.

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

TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients.

Involvement of interstitial telomeric sequences in two new cases of mosaicism for autosomal structural rearrangements.

Cystic leukoencephalopathy with cortical dysplasia related to LAMB1 mutations.

Insertion of an extra copy of Xq22.2 into 1p36 results in functional duplication of the PLP1 gene in a girl with classical Pelizaeus-Merzbacher disease.

Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia.

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