Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency
Brun, L, Ngu, L H, Keng, W T, Ch'ng, G S, Choy, Y S, Hwu, W L, Lee, W T, Willemsen, M A A P, Verbeek, M M, Wassenberg, T, Régal, L, Orcesi, S, Tonduti, D, Accorsi, P, Testard, H, Abdenur, J E, Tay, S, Allen, G F, Heales, S, Kern, I, Kato, M, Burlina, A, Manegold, C, Hoffmann, G F, Blau, N
Published in Neurology (06.07.2010)
Published in Neurology (06.07.2010)
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Cortical malformations and COL4A1 mutation: Three new cases
Vitale, G., Pichiecchio, A., Ormitti, F., Tonduti, D., Asaro, A., Farina, L., Piccolo, B., Percesepe, A., Bastianello, S., Orcesi, S., Accorsi, P., Battaglia, D., Cereda, C., Martelli, P., Mine, M., Pinelli, L., Tartaglione, T., Ghi, T., Parrini, E., Zuffardi, O.
Published in European journal of paediatric neurology (01.05.2019)
Published in European journal of paediatric neurology (01.05.2019)
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Dysregulation of the immune system in Aicardi-Goutières syndrome: another example in a TREX1-mutated patient
Olivieri, I, Cattalini, M, Tonduti, D, Piana, R La, Uggetti, C, Galli, J, Meini, A, Tincani, A, Moratto, D, Fazzi, E, Balottin, U, Orcesi, S
Published in Lupus (01.09.2013)
Published in Lupus (01.09.2013)
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Elevated aspartate aminotransferase and lactate dehydrogenase levels are a constant finding in PLA2G6-associated neurodegeneration
Kraoua, I., Romani, M., Tonduti, D., BenRhouma, H., Zorzi, G., Zibordi, F., Ardissone, A., Gouider-Khouja, N., Ben Youssef-Turki, I., Nardocci, N., Valente, E. M.
Published in European journal of neurology (01.04.2016)
Published in European journal of neurology (01.04.2016)
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Whole exome sequencing in patients with inherited white matter disorders
Dorboz, I, Renaldo, F, Boussaid, K, Samaan, S, Tonduti, D, Eymard-Pierre, E, Elmaleh, M, Rodriguez, D, Boespflug-Tanguy, O
Published in European journal of paediatric neurology (01.06.2017)
Published in European journal of paediatric neurology (01.06.2017)
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COL4A1 mutations associated with a characteristic pattern of intracranial calcification
Livingston, J, Doherty, D, Orcesi, S, Tonduti, D, Piechiecchio, A, La Piana, R, Tournier-Lasserve, E, Majumdar, A, Tomkins, S, Rice, G, Kneen, R, van der Knaap, M, Crow, Y
Published in Neuropediatrics (01.12.2011)
Published in Neuropediatrics (01.12.2011)
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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
Published in European journal of paediatric neurology (01.06.2017)
Published in European journal of paediatric neurology (01.06.2017)
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OP49 – 2560: PLP1 mutations affecting PLP1/DM20 alternative splicing causes hypomyelination of early myelinating structures
Kevelam, S.H, Taube, J.R, van Spaendonk, R.M.L, Bertini, E, Tarnopolsky, M, Tonduti, D, Bernard, G, Catsman-Berrevoets, C.E, van Karnebeek, C.D.M, Østergaard, J.R, Friederich, R.L, Fawzi, M, Schieving, J.H, Orcesi, S, Steenweg, M.E, Waisfisz, Q, Abbink, T.E.M, van der Knaap, M.S, Hobson, G.M, Wolf, N.I
Published in European journal of paediatric neurology (01.05.2015)
Published in European journal of paediatric neurology (01.05.2015)
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Establishing Patient-Centered Outcomes for MCT8 Deficiency: Stakeholder Engagement and Systematic Literature Review
Wilpert, Nina-Maria, Tonduti, Davide, Vaia, Ylenia, Krude, Heiko, Sarret, Catherine, Schuelke, Markus
Published in Neuropsychiatric disease and treatment (31.10.2023)
Published in Neuropsychiatric disease and treatment (31.10.2023)
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Elevated aspartate aminotransferase and lactate dehydrogenase levels are a constant finding in PLA 2G6 ‐associated neurodegeneration
Kraoua, I., Romani, M., Tonduti, D., BenRhouma, H., Zorzi, G., Zibordi, F., Ardissone, A., Gouider‐Khouja, N., Ben Youssef‐Turki, I., Nardocci, N., Valente, E. M.
Published in European journal of neurology (01.04.2016)
Published in European journal of neurology (01.04.2016)
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P.075 Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants
Gauquelin, L, Cayami, FK, Sztriha, L, Yoon, G, Tran, LT, Guerrero, K, Hocke, F, van Spaendonk, RM, Fung, EL, D’Arrigo, S, Vasco, G, Thiffault, I, Niyazov, DM, Person, R, Lewis, KS, Wassmer, E, Prescott, T, Fallon, P, McEntagart, M, Rankin, J, Webster, R, Philippi, H, van de Warrenburg, B, Timmann, D, Dixit, A, Searle, C, Thakur, N, Kruer, MC, Sharma, S, Vanderver, A, Tonduti, D, van der Knaap, MS, Bertini, E, Goizet, C, Fribourg, S, Wolf, NI, Bernard, G
Published in Canadian journal of neurological sciences (01.06.2019)
Published in Canadian journal of neurological sciences (01.06.2019)
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P254 – 2152 A new high water content leukoencephalopathy related to a basement membrane dysfunction
Tonduti, D, Dorboz, I, Renaldo, F, Masliah-Planchon, J, Elmaleh, M, Dalens, H, Rodriguez, D, Boespflug-Tanguy, O
Published in European journal of paediatric neurology (01.09.2013)
Published in European journal of paediatric neurology (01.09.2013)
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COL4A1-related disease: raised creatine kinase and cerebral calcification as useful pointers
Tonduti, Davide, Pichiecchio, Anna, La Piana, Roberta, Livingston, John H, Doherty, Daniel A, Majumdar, Anirban, Tomkins, Susan, Mine, Manuele, Ceroni, Mauro, Ricca, Ivana, Balottin, Umberto, Orcesi, Simona
Published in Neuropediatrics (01.10.2012)
Published in Neuropediatrics (01.10.2012)
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Novel hypomyelinating leukoencephalopathy affecting early myelinating structures: clinical course in two brothers
Tonduti, Davide, Pichiecchio, Anna, Wolf, Nicole I, Ariaudo, Giada, van der Knaap, Marjo S, Bastianello, Stefano, Balottin, Umberto, Orcesi, Simona
Published in Neuropediatrics (01.08.2013)
Published in Neuropediatrics (01.08.2013)
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O40 – 2159 Hypomyelinating leukodystrophy due to recessive mutations of GJC2 (connexin 47): clinical and radiological characteristics in 18 patients
Renaldo, F, Tonduti, D, Dorboz, I, Masliah, J, Giraud, G, Elmaleh, M, Orivoli, S, Beraud-Majorel, C, Drunat, S, Chalard, F, Barthez, MA, Desguerre, I, Quijano-Roy, S, Rodriguez, D, Boespflug-Tanguy, O
Published in European journal of paediatric neurology (01.09.2013)
Published in European journal of paediatric neurology (01.09.2013)
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Leucodystrophies hypomyélinisantes liées aux mutations récessives de GJC2 (connexine 47) : particularités clinicoradiologiques à propos d’une série de 17 cas
Renaldo, F., Tonduti, D., Dorboz, I., Masliah-Planchon, J., Giraud, G., Elmaleh, M., Orivoli, S., Beraud-Majorel, C., Drunat, S., Chalard, F., Barthez, M.-A., Desguerre, I., Quijano-Roy, S., Rodriguez, D., Boespflug-Tanguy, O.
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.04.2013)
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.04.2013)
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Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutières syndrome
Tonduti, Davide, MD, Orcesi, Simona, MD, Jenkinson, Emma M., BSc, PhD, Dorboz, Imen, PhD, Renaldo, Florence, MD, Panteghini, Celeste, MSC, Rice, Gillian I., BSc, PhD, Henneke, Marco, MD, Livingston, John H., MBCHB, FRCP, FRCPCH, Elmaleh, Monique, MD, Burglen, Lydie, PhD, Willemsen, Michèl AAP., MD, Chiapparini, Luisa, MD, Garavaglia, Barbara, PhD, Rodriguez, Diana, PhD, Boespflug-Tanguy, Odile, PhD, Moroni, Isabella, MD, Crow, Yanick J., MD, PhD
Published in European journal of paediatric neurology (01.07.2016)
Published in European journal of paediatric neurology (01.07.2016)
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New Case of 4H Syndrome and a Review of the Literature
Orcesi, Simona, MD, Tonduti, Davide, MD, Uggetti, Carla, MD, Larizza, Daniela, MD, Fazzi, Elisa, MD, Balottin, Umberto, MD
Published in Pediatric neurology (01.05.2010)
Published in Pediatric neurology (01.05.2010)
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