@article{MTMT:34090032, title = {Analysis of the most common nuclear genome encoded mitochondrial gene in Hungarian patients with adult-onset mitochondrial disorders}, url = {https://m2.mtmt.hu/api/publication/34090032}, author = {Szabó, Fruzsina and Grosz, Zoltán and Gézsi, András and Suveges, Anna and Jimoh, Idris János and Zeke, Helga and Gál, Anikó and Molnár, Mária Judit}, journal-iso = {EUR J HUM GENET}, journal = {EUROPEAN JOURNAL OF HUMAN GENETICS}, volume = {30}, unique-id = {34090032}, issn = {1018-4813}, keywords = {Biochemistry & Molecular Biology}, year = {2022}, eissn = {1476-5438}, pages = {286-286}, orcid-numbers = {Szabó, Fruzsina/0000-0001-7796-3110; Grosz, Zoltán/0000-0001-7353-1214; Gézsi, András/0000-0003-1022-6356; Jimoh, Idris János/0000-0001-7415-4836; Zeke, Helga/0000-0003-4643-9679; Gál, Anikó/0000-0002-2059-5748; Molnár, Mária Judit/0000-0001-9350-1864} } @article{MTMT:32990409, title = {Cornealis polymegathismus és retinalis pigmenthám-eltérések MELAS-szindrómában}, url = {https://m2.mtmt.hu/api/publication/32990409}, author = {István, Lilla and Benyó, Fruzsina and Csorba, Anita and Jimoh, Idris János and Gál, Anikó and Molnár, Mária Judit and Nagy, Zoltán Zsolt and Szabó, Viktória}, doi = {10.55342/SZEMHUNGARICA.2022.159.2.69}, journal-iso = {SZEMÉSZET}, journal = {SZEMÉSZET}, volume = {159}, unique-id = {32990409}, issn = {0039-8101}, year = {2022}, pages = {69-75}, orcid-numbers = {Csorba, Anita/0000-0002-3256-9440; Jimoh, Idris János/0000-0001-7415-4836; Gál, Anikó/0000-0002-2059-5748; Molnár, Mária Judit/0000-0001-9350-1864; Nagy, Zoltán Zsolt/0000-0002-7330-0464} } @article{MTMT:32587580, title = {A mitochondrialis betegségek diagnosztikai és kezelési lehetőségei 2021-ben}, url = {https://m2.mtmt.hu/api/publication/32587580}, author = {Jimoh, Idris János and Molnár, Mária Judit}, journal-iso = {ORVOSTOVÁBBKÉPZŐ SZLE}, journal = {ORVOSTOVÁBBKÉPZŐ SZEMLE}, unique-id = {32587580}, issn = {1218-2583}, year = {2022}, orcid-numbers = {Jimoh, Idris János/0000-0001-7415-4836; Molnár, Mária Judit/0000-0001-9350-1864} } @article{MTMT:32596517, title = {SPG7 mutations in Hungarian cohorts: new insights and possible genotype-phenotype correlations}, url = {https://m2.mtmt.hu/api/publication/32596517}, author = {Jimoh, Idris János and Balicza, Péter and Csabán, Dóra and Grosz, Zoltán and Varga, N. and Molnár, Viktor and Fekete, Bálint András and Illés, Anett and Boczán, Judit and Klivényi, Péter and Gál, Anikó and Molnár, Mária Judit}, journal-iso = {EUR J NEUROL}, journal = {EUROPEAN JOURNAL OF NEUROLOGY}, volume = {28}, unique-id = {32596517}, issn = {1351-5101}, abstract = {Background and aims: Paraplegin encoded by SPG7 causes autosomal recessive hereditary spastic paraplegia (HSP). It is responsible for 5–12% of the HSPs. The SPG7 mutations result in pure HSP, but based on some observations the clinical picture can be more colourful.Methods: We screened 342 Hungarian patients for damaging SPG7 rare variants (DRVs) by NGS. Based on phenotype 5 subcohort were established: spastic paraplegia; ataxia; motoneuron lesion; progressive external ophthalmoplegia, and patient with mitochondrial encephalopathy. We aimed to identify the frequency of the DRVs of the SPG7 in these patients and to compare its ratio in the subgroups.Results: We identified 17 patients with biallelic, 16 patients with monoallelic DRVs. The p.Leu78Ter mutation was present in nine cases with biallelic, in four cases with monoallelic presentation. This DRV seems to be the most common DRV associated with HSP7 in Hungary. In patients with heterozygous presentation is seems to be disease-causing similarly as the p.Ala510Val mutation, which was proposed previously to be associated with HSP in heterozygous form as well. This latter was also common in the Hungarian cohort. The ratio of DRVs was the following in the subgroups: spasticity 11,39%, ataxia 17,61%, motoneuron lesion 7,87%, PEO 11,90%., and mitochondrial encephalopathy 9,64%.Conclusion: SPG7 mutation result in wide clinical phenotype. The p.Leu78Ter DRV is the most common pathogenic mutation in Hungary beside the p.Ala510Val. Both of these DRVs may result in clinical signs both in monoallelic and biallelic form, the monoallelic alterations result in less severe phenotype.Disclosure: The authors have nothing to declare.}, year = {2021}, eissn = {1468-1331}, pages = {845-845}, orcid-numbers = {Jimoh, Idris János/0000-0001-7415-4836; Balicza, Péter/0000-0001-8555-5467; Csabán, Dóra/0000-0003-4602-6639; Grosz, Zoltán/0000-0001-7353-1214; Molnár, Viktor/0000-0002-4156-9987; Fekete, Bálint András/0000-0002-3895-477X; Illés, Anett/0000-0001-5351-9015; Klivényi, Péter/0000-0002-5389-3266; Gál, Anikó/0000-0002-2059-5748; Molnár, Mária Judit/0000-0001-9350-1864} } @article{MTMT:31409996, title = {Wernicke–Korsakoff syndrome associated with mtDNA disease}, url = {https://m2.mtmt.hu/api/publication/31409996}, author = {Jimoh, Idris János and Sebe, Barbara and Balicza, Péter and Fedor, Mariann and Pataky, Ilona and Rudas, Gábor and Gál, Anikó and Inczédy-Farkas, Gabriella and Németh, György and Molnár, Mária Judit}, doi = {10.1177/1756286420938972}, journal-iso = {THER ADV NEUROL DISO}, journal = {THERAPEUTIC ADVANCES IN NEUROLOGICAL DISORDERS}, volume = {13}, unique-id = {31409996}, issn = {1756-2856}, year = {2020}, eissn = {1756-2864}, orcid-numbers = {Jimoh, Idris János/0000-0001-7415-4836; Balicza, Péter/0000-0001-8555-5467; Fedor, Mariann/0000-0001-7926-0152; Gál, Anikó/0000-0002-2059-5748; Molnár, Mária Judit/0000-0001-9350-1864} } @article{MTMT:31293409, title = {Early-Onset Schizophrenia With Predominantly Negative Symptoms: A Case Study of a Drug-Naive Female Patient Treated With Cariprazine}, url = {https://m2.mtmt.hu/api/publication/31293409}, author = {Molnár, Mária Judit and Jimoh, Idris János and Zeke, Helga and Palásti, Ágnes and Fedor, Mariann}, doi = {10.3389/fphar.2020.00477}, journal-iso = {FRONT PHARMACOL}, journal = {FRONTIERS IN PHARMACOLOGY}, volume = {11}, unique-id = {31293409}, abstract = {Schizophrenia is a chronic and severe mental disorder characterized by positive, negative, and cognitive symptoms. Negative symptoms are usually present from the prodromal phase; early diagnosis and management of negative symptoms is a major health concern since an insidious onset dominated by negative symptoms is associated with a worse outcome. Antipsychotic medications, which are effective for treating positive symptoms, are generally ineffective for treating negative or cognitive symptoms. We present a 23-year-old woman showing severe symptoms at her first visit to our department. The patient’s parents reported that their daughter had experienced several years of psychosocial decline and putative psychiatric symptoms, but no medical attention had been previously sought; as such, the diagnosis of schizophrenia with predominantly negative symptoms was very much delayed. Early onset of schizophrenia, longer duration of untreated psychosis, and severe negative symptoms, which have limited treatment options, suggested a poor prognosis. We initiated monotherapy with cariprazine, a novel antipsychotic that has recently been proven efficacious in treating schizophrenia with predominantly negative symptoms. This report describes a 52-week cariprazine treatment regimen and follows the patient’s impressive clinical improvement confirmed by PANSS and CGI scores, and psychological tests.}, year = {2020}, eissn = {1663-9812}, orcid-numbers = {Molnár, Mária Judit/0000-0001-9350-1864; Jimoh, Idris János/0000-0001-7415-4836; Zeke, Helga/0000-0003-4643-9679; Palásti, Ágnes/0000-0001-5993-3735; Fedor, Mariann/0000-0001-7926-0152} } @article{MTMT:32686652, title = {Sequential approach to identify disease causing variants in patients with mitochondrial dysfunction of a Hungarian cohort}, url = {https://m2.mtmt.hu/api/publication/32686652}, author = {Molnár, Viktor and Gézsi, András and Illés, Anett and Balicza, Péter and Berta, B. and Csabán, Dóra and Jimoh, Idris János and Gál, Anikó and Molnár, Mária Judit}, journal-iso = {EUR J HUM GENET}, journal = {EUROPEAN JOURNAL OF HUMAN GENETICS}, volume = {27}, unique-id = {32686652}, issn = {1018-4813}, keywords = {Biochemistry & Molecular Biology}, year = {2019}, eissn = {1476-5438}, pages = {191-192}, orcid-numbers = {Molnár, Viktor/0000-0002-4156-9987; Gézsi, András/0000-0003-1022-6356; Illés, Anett/0000-0001-5351-9015; Balicza, Péter/0000-0001-8555-5467; Csabán, Dóra/0000-0003-4602-6639; Jimoh, Idris János/0000-0001-7415-4836; Gál, Anikó/0000-0002-2059-5748; Molnár, Mária Judit/0000-0001-9350-1864} } @article{MTMT:31032708, title = {Broadening the phenotype of the TWNK gene associated Perrault syndrome}, url = {https://m2.mtmt.hu/api/publication/31032708}, author = {Fekete, Bálint András and Pentelényi, Klára and Rudas, Gábor and Gál, Anikó and Grosz, Zoltán and Illés, Anett and Jimoh, Idris János and Csukly, Gábor and Domonkos, Andor and Molnár, Mária Judit}, doi = {10.1186/s12881-019-0934-4}, journal-iso = {BMC MED GENET}, journal = {BMC MEDICAL GENETICS}, volume = {20}, unique-id = {31032708}, issn = {1471-2350}, abstract = {Perrault syndrome is a genetically heterogenous, very rare disease, characterized clinically by sensorineural hearing loss, ovarian dysfunction and neurological symptoms. We present the case of a 33 years old female patient with TWNK-associated Perrault syndrome. The TWNK gene is coding the mitochondrial protein Twinkle and currently there are only two reports characterizing the phenotype of TWNK-associated Perrault syndrome. None of these publications reported about special brain MRI alterations and neuropathological changes in the muscle and peripheral nerves.Our patients with TWNK-dependent Perrault syndrome had severe bilateral hypoacusis, severe ataxia, polyneuropathy, lower limb spastic paraparesis with pyramidal signs, and gonadal dysgenesis. Psychiatric symptoms such as depression and paranoia were present as well. Brain MRI observed progressive cerebellar hyperintensive signs associated with cerebellar, medulla oblongata and cervical spinal cord atrophy. Light microscopy of the muscle biopsy detected severe neurogenic lesions. COX staining was centrally reduced in many muscle fibers. Both muscle and sural nerve electron microscopy detected slightly enlarged mitochondria with abnormal cristae surrounded by lipid vacuoles. In the sural nerve, dystrophic axons had focally uncompacted myelin lamellae present. Genetic investigation revealed multiple mtDNA deletion and compound heterozygous mutations of the TWNK gene (c.1196 A > G, c.1358 G > A).This study demonstrates that TWNK associated Perrault syndrome has a much broader phenotype as originally published. The coexistence of severe hypoacusis, spastic limb weakness, ataxia, polyneuropathy, gonadal dysgensia, hyperintense signals in the cerebellum and the presence of the mtDNA multiple deletion could indicate the impairment of the TWNK gene. This is the first report about pyramidal tract involvement and cerebellar MRI alteration associated with TWNK-related Perrault syndrome.}, keywords = {perrault syndrome; spastic ataxia; Hyperintense cerebellar signal; TWNK}, year = {2019}, eissn = {1471-2350}, orcid-numbers = {Fekete, Bálint András/0000-0002-3895-477X; Pentelényi, Klára/0000-0003-2034-5869; Gál, Anikó/0000-0002-2059-5748; Grosz, Zoltán/0000-0001-7353-1214; Illés, Anett/0000-0001-5351-9015; Jimoh, Idris János/0000-0001-7415-4836; Csukly, Gábor/0000-0002-5006-9407; Molnár, Mária Judit/0000-0001-9350-1864} } @misc{MTMT:31796560, title = {Sequential approach to identify disease causing variants in patients with mitochondrial dysfunction of a Hungarian cohort}, url = {https://m2.mtmt.hu/api/publication/31796560}, author = {Molnár, Viktor and Gézsi, András and Illés, Anett and Balicza, Péter and Berta, B and Csabán, Dóra and Jimoh, Idris János and Gál, Anikó and Molnár, Mária Judit}, unique-id = {31796560}, year = {2018}, orcid-numbers = {Molnár, Viktor/0000-0002-4156-9987; Gézsi, András/0000-0003-1022-6356; Illés, Anett/0000-0001-5351-9015; Balicza, Péter/0000-0001-8555-5467; Csabán, Dóra/0000-0003-4602-6639; Jimoh, Idris János/0000-0001-7415-4836; Gál, Anikó/0000-0002-2059-5748; Molnár, Mária Judit/0000-0001-9350-1864} }