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  1. Article: Case report: A novel pathogenic FRMD7 variant in a Turner syndrome patient with familial idiopathic infantile nystagmus.

    Hafdaoui, Sara / Ciaccio, Claudia / Castellotti, Barbara / Sciacca, Francesca L / Pantaleoni, Chiara / D'Arrigo, Stefano

    Frontiers in neurology

    2023  Volume 14, Page(s) 1199095

    Abstract: Infantile idiopathic nystagmus (IIN) is an oculomotor disorder characterized by involuntary bilateral, periodic ocular oscillations, predominantly on the horizontal axis. X-linked IIN (XLIIN) is the most common form of congenital nystagmus, and the FERM ... ...

    Abstract Infantile idiopathic nystagmus (IIN) is an oculomotor disorder characterized by involuntary bilateral, periodic ocular oscillations, predominantly on the horizontal axis. X-linked IIN (XLIIN) is the most common form of congenital nystagmus, and the FERM domain-containing gene (
    Language English
    Publishing date 2023-07-20
    Publishing country Switzerland
    Document type Case Reports
    ZDB-ID 2564214-5
    ISSN 1664-2295
    ISSN 1664-2295
    DOI 10.3389/fneur.2023.1199095
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: 22q13.33 duplication involving SHANK3 gene: a boy and his mother with "persistent" language and speech sound disorder.

    Granocchio, Elisa / Pollina, Eleonora / De Salvatore, Marinella / Scopelliti, Maria R / Tanzi, Giorgia / Sciacca, Francesca L / D'Arrigo, Stefano / Ciaccio, Claudia

    Psychiatric genetics

    2023  Volume 34, Issue 1, Page(s) 19–23

    Abstract: Patients carrying 22q13.33 duplication present variable neurodevelopmental phenotype. Among these, patients with genetic alteration disrupting SHANK3 gene are very rare and they also present neurodevelopmental disorder such as autism spectrum disorder ... ...

    Abstract Patients carrying 22q13.33 duplication present variable neurodevelopmental phenotype. Among these, patients with genetic alteration disrupting SHANK3 gene are very rare and they also present neurodevelopmental disorder such as autism spectrum disorder and intellectual disability. The real incidence is unknown because mild and variable phenotype could cause reduction in diagnosed cases. We describe the first case of 22q13.33 microduplication disrupting SHANK3 gene, inherited from mother to son, that presents a "persistent" language and speech sound disorder as main symptom without intellectual disability and autism spectrum disorder. More clinical reports with accurate phenotype description are needed to better define the profile of carriers of this genetic alteration.
    MeSH term(s) Male ; Female ; Humans ; Chromosome Deletion ; Chromosome Disorders/genetics ; Mothers ; Intellectual Disability/genetics ; Autism Spectrum Disorder/genetics ; Speech Sound Disorder/genetics ; Language ; Chromosomes, Human, Pair 22/genetics ; Nerve Tissue Proteins/genetics
    Chemical Substances SHANK3 protein, human ; Nerve Tissue Proteins
    Language English
    Publishing date 2023-12-04
    Publishing country England
    Document type Case Reports ; Journal Article
    ZDB-ID 1067837-2
    ISSN 1473-5873 ; 0955-8829
    ISSN (online) 1473-5873
    ISSN 0955-8829
    DOI 10.1097/YPG.0000000000000355
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 3165: Show issues Location:
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  3. Article ; Online: Generation of iPSCs from identical twin, one affected by LHON and one unaffected, both carrying a combination of two mitochondrial variants: m.14484 T>C and m.10680G>A.

    Peron, Camille / Cavaliere, Andrea / Fasano, Chiara / Iannielli, Angelo / Spagnolo, Manuela / Legati, Andrea / Nicol Colombo, Maria / Rizzo, Ambra / Sciacca, Francesca L / Carelli, Valerio / Broccoli, Vania / Lamperti, Costanza / Tiranti, Valeria

    Stem cell research

    2024  Volume 77, Page(s) 103406

    Abstract: Leber hereditary optic neuropathy (LHON) is one of the most common mitochondrial illness, causing retinal ganglion cell degeneration and central vision loss. It stems from point mutations in mitochondrial DNA (mtDNA), with key mutations being m.3460G > A, ...

    Abstract Leber hereditary optic neuropathy (LHON) is one of the most common mitochondrial illness, causing retinal ganglion cell degeneration and central vision loss. It stems from point mutations in mitochondrial DNA (mtDNA), with key mutations being m.3460G > A, m.11778G > A, and m.14484 T > C. Fibroblasts from identical twins, sharing m.14484 T > C and m.10680G > A variants each with 70 % heteroplasmy, were used to generate iPSC lines. Remarkably, one twin, a LHON patient, displayed symptoms, while the other, a carrier, remained asymptomatic. These iPSCs offer a valuable tool for studying factors influencing disease penetrance and unravelling the role of m.10680G > A, which is still debated.
    Language English
    Publishing date 2024-03-24
    Publishing country England
    Document type Journal Article
    ZDB-ID 2393143-7
    ISSN 1876-7753 ; 1873-5061
    ISSN (online) 1876-7753
    ISSN 1873-5061
    DOI 10.1016/j.scr.2024.103406
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  4. Article ; Online: Cortical Myoclonus and Complex Paroxysmal Dyskinesias in a Patient with NAA15 Variant.

    Freri, Elena / Canafoglia, Laura / Ciaccio, Claudia / Rossi Sebastiano, Davide / Caputo, Davide / Solazzi, Roberta / Sciacca, Francesca L / Iascone, Maria / Panzica, Ferruccio / Granata, Tiziana / Franceschetti, Silvana / Nardocci, Nardo

    Movement disorders : official journal of the Movement Disorder Society

    2024  

    Language English
    Publishing date 2024-04-21
    Publishing country United States
    Document type Letter
    ZDB-ID 607633-6
    ISSN 1531-8257 ; 0885-3185
    ISSN (online) 1531-8257
    ISSN 0885-3185
    DOI 10.1002/mds.29793
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 2555: Show issues Location:
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    Zs.MO 238: Show issues

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  5. Article ; Online: Rhythmic cortical myoclonus in patients with 6Q22.1 deletion.

    Canafoglia, Laura / Zibordi, Federica / Deleo, Francesco / Strigaro, Gionata / Varrasi, Claudia / Ciaccio, Claudia / Nardocci, Nardo / Panzica, Ferruccio / Franceschetti, Silvana / Sciacca, Francesca L

    European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

    2023  Volume 44, Page(s) 25–27

    Abstract: DNA deletions involving 6q22.1 region result in developmental encephalopathy (DE), often associated with movement disorders and epilepsy. The phenotype is attributed to the loss of the NUS1 gene included in the deleted region. Here we report three ... ...

    Abstract DNA deletions involving 6q22.1 region result in developmental encephalopathy (DE), often associated with movement disorders and epilepsy. The phenotype is attributed to the loss of the NUS1 gene included in the deleted region. Here we report three patients with 6q22.1 deletions of variable length all showing developmental delay, and rhythmic cortical myoclonus. Two patients had generalized seizures beginning in infancy. Myoclonic jerks had polygraphic features consistent with a cortical origin, also supported by cortico-muscular coherence analysis displaying a significant peak around 20 Hz contralateral to activated segment. Deletions in 6q22.1 region, similarly to NUS1 loss-of-function mutations, give rise to DE and cortical myoclonus via a haploinsufficiency mechanism. A phenotype of progressive myoclonic epilepsy (PME) may also occur.
    MeSH term(s) Humans ; Myoclonus/genetics ; Electroencephalography ; Epilepsy/genetics ; Seizures ; Epilepsies, Myoclonic/genetics ; Receptors, Cell Surface
    Chemical Substances NUS1 protein, human ; Receptors, Cell Surface
    Language English
    Publishing date 2023-03-22
    Publishing country England
    Document type Journal Article
    ZDB-ID 1397146-3
    ISSN 1532-2130 ; 1090-3798
    ISSN (online) 1532-2130
    ISSN 1090-3798
    DOI 10.1016/j.ejpn.2023.03.001
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 4867: Show issues Location:
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    Zs.MO 641: Show issues

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  6. Article ; Online: Generation of two human iPSC lines, FINCBi002-A and FINCBi003-A, carrying heteroplasmic macrodeletion of mitochondrial DNA causing Pearson's syndrome.

    Peron, Camille / Mauceri, Roberta / Iannielli, Angelo / Cavaliere, Andrea / Legati, Andrea / Rizzo, Ambra / Sciacca, Francesca L / Broccoli, Vania / Tiranti, Valeria

    Stem cell research

    2021  Volume 50, Page(s) 102151

    Abstract: Pearson marrow pancreas syndrome (PMPS) is a sporadic mitochondrial disease, resulting from the clonal expansion of a mutated mitochondrial DNA (mtDNA) molecule bearing a macro-deletion, and therefore missing essential genetic information. PMPS is ... ...

    Abstract Pearson marrow pancreas syndrome (PMPS) is a sporadic mitochondrial disease, resulting from the clonal expansion of a mutated mitochondrial DNA (mtDNA) molecule bearing a macro-deletion, and therefore missing essential genetic information. PMPS is characterized by the presence of deleted (Δ) mtDNA that co-exist with the presence of a variable amount of wild-type mtDNA, a condition termed heteroplasmy. All tissues of the affected individual, including the haemopoietic system and the post-mitotic, highly specialized tissues (brain, skeletal muscle, and heart) contain the large-scale mtDNA deletion in variable amount. We generated human induced pluripotent stem cells (hiPSCs) from two PMPS patients, carrying different type of large-scale deletion.
    Language English
    Publishing date 2021-01-04
    Publishing country England
    Document type Journal Article
    ZDB-ID 2393143-7
    ISSN 1876-7753 ; 1873-5061
    ISSN (online) 1876-7753
    ISSN 1873-5061
    DOI 10.1016/j.scr.2020.102151
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  7. Article: Severe Phenotype in a Patient With Homozygous 15q21.2 Microdeletion Involving

    Sciacca, Francesca L / Ciaccio, Claudia / Fontana, Federica / Strano, Camilla / Gilardoni, Francesca / Pantaleoni, Chiara / D'Arrigo, Stefano

    Frontiers in genetics

    2020  Volume 11, Page(s) 399

    Abstract: Homozygous and compound heterozygous mutations ... ...

    Abstract Homozygous and compound heterozygous mutations in
    Language English
    Publishing date 2020-05-13
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2606823-0
    ISSN 1664-8021
    ISSN 1664-8021
    DOI 10.3389/fgene.2020.00399
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  8. Article ; Online: Neurological phenotype of Potocki-Lupski syndrome.

    Ciaccio, Claudia / Pantaleoni, Chiara / Milani, Donatella / Alfei, Enrico / Sciacca, Francesca L / Canafoglia, Laura / Erbetta, Alessandra / D'Arrigo, Stefano

    American journal of medical genetics. Part A

    2020  Volume 182, Issue 10, Page(s) 2317–2324

    Abstract: Potocki-Lupski syndrome is a condition mainly characterized by infantile hypotonia, developmental delay/intellectual disability (DD/ID), and congenital anomalies, caused by duplications of the 17p11.2 region, encompassing RAI1 gene. Its clinical ... ...

    Abstract Potocki-Lupski syndrome is a condition mainly characterized by infantile hypotonia, developmental delay/intellectual disability (DD/ID), and congenital anomalies, caused by duplications of the 17p11.2 region, encompassing RAI1 gene. Its clinical presentation is extremely variable, especially for what concerns the cognitive level and the behavioral phenotype. Such aspects, as well as the dysmorphic/malformative ones, have been covered by previous studies; otherwise neurological features have never been systematically described. In order to delineate the neurological phenotype of Potocki-Lupski Syndrome, we collect an 8-patients cohort. Developmental milestones are delayed and a mild to moderate cognitive impairment is present in all patients, variably associated with features of autism spectrum disorder, behavioral disturb, and sleep disturb. Hypotonia appears a less frequent finding than what previously reported, while motor clumsiness/coordination impairment is frequent. EGG registration demonstrated a common pattern with excess of diffuse rhythmic activity in sleep phases or while the patient is falling asleep. Brain MRI did not reveal common anomalies, although unspecific white matter changes may be present. We discuss such findings and compare them to literature data, offering an overview on the neurological and cognitive-behavioral presentation of the syndrome.
    MeSH term(s) Abnormalities, Multiple/diagnostic imaging ; Abnormalities, Multiple/genetics ; Abnormalities, Multiple/pathology ; Adolescent ; Child ; Child, Preschool ; Chromosome Disorders/diagnostic imaging ; Chromosome Disorders/genetics ; Chromosome Disorders/pathology ; Chromosome Duplication/genetics ; Cognitive Dysfunction/diagnostic imaging ; Comparative Genomic Hybridization ; Developmental Disabilities/diagnostic imaging ; Developmental Disabilities/genetics ; Developmental Disabilities/pathology ; Electroencephalography ; Female ; Humans ; Infant ; Intellectual Disability/diagnostic imaging ; Intellectual Disability/genetics ; Intellectual Disability/pathology ; Magnetic Resonance Imaging ; Male ; Muscle Hypotonia/diagnostic imaging ; Muscle Hypotonia/genetics ; Muscle Hypotonia/pathology ; Nervous System Diseases/diagnostic imaging ; Nervous System Diseases/genetics ; Nervous System Diseases/pathology ; Phenotype ; Sleep/physiology
    Language English
    Publishing date 2020-08-15
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2108614-X
    ISSN 1552-4833 ; 0148-7299 ; 1552-4825
    ISSN (online) 1552-4833
    ISSN 0148-7299 ; 1552-4825
    DOI 10.1002/ajmg.a.61789
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1376/A: Show issues Location:
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  9. Article ; Online: Generation of a human iPSC line, FINCBi001-A, carrying a homoplasmic m.G3460A mutation in MT-ND1 associated with Leber's Hereditary optic Neuropathy (LHON).

    Peron, Camille / Mauceri, Roberta / Cabassi, Tommaso / Segnali, Alice / Maresca, Alessandra / Iannielli, Angelo / Rizzo, Ambra / Sciacca, Francesca L / Broccoli, Vania / Carelli, Valerio / Tiranti, Valeria

    Stem cell research

    2020  Volume 48, Page(s) 101939

    Abstract: Leber's Hereditary Optic Neuropathy (LHON) is a maternally inherited disorder caused by homoplasmic mutations of mitochondrial DNA (mtDNA). LHON is characterized by the selective degeneration of the retinal ganglion cells (RGC). Almost all LHON maternal ... ...

    Abstract Leber's Hereditary Optic Neuropathy (LHON) is a maternally inherited disorder caused by homoplasmic mutations of mitochondrial DNA (mtDNA). LHON is characterized by the selective degeneration of the retinal ganglion cells (RGC). Almost all LHON maternal lineages are homoplasmic mutant (100% mtDNA copies are mutant) for one of three frequent mtDNA mutations now found in over 90% of patients worldwide (m.11778G > A/MT-ND4, m.3460G > A/MT-ND1, m.14484 T > C/MT-ND6). Human induced pluripotent stem cells (hiPSCs) were generated from a patient carrying the homoplasmic m.3460G > A/MT-ND1 mutation using the Sendai virus non-integrating virus.
    MeSH term(s) DNA, Mitochondrial/genetics ; Humans ; Induced Pluripotent Stem Cells ; Mitochondria/genetics ; Mutation/genetics ; NADH Dehydrogenase/genetics ; Optic Atrophy, Hereditary, Leber/genetics
    Chemical Substances DNA, Mitochondrial ; NADH Dehydrogenase (EC 1.6.99.3) ; MT-ND1 protein, human (EC 7.1.1.2)
    Language English
    Publishing date 2020-08-03
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ISSN 1876-7753
    ISSN (online) 1876-7753
    DOI 10.1016/j.scr.2020.101939
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  10. Article ; Online: The relevance of mitochondrial DNA variants fluctuation during reprogramming and neuronal differentiation of human iPSCs.

    Palombo, Flavia / Peron, Camille / Caporali, Leonardo / Iannielli, Angelo / Maresca, Alessandra / Di Meo, Ivano / Fiorini, Claudio / Segnali, Alice / Sciacca, Francesca L / Rizzo, Ambra / Levi, Sonia / Suomalainen, Anu / Prigione, Alessandro / Broccoli, Vania / Carelli, Valerio / Tiranti, Valeria

    Stem cell reports

    2021  Volume 16, Issue 8, Page(s) 1953–1967

    Abstract: The generation of inducible pluripotent stem cells (iPSCs) is a revolutionary technique allowing production of pluripotent patient-specific cell lines used for disease modeling, drug screening, and cell therapy. Integrity of nuclear DNA (nDNA) is ... ...

    Abstract The generation of inducible pluripotent stem cells (iPSCs) is a revolutionary technique allowing production of pluripotent patient-specific cell lines used for disease modeling, drug screening, and cell therapy. Integrity of nuclear DNA (nDNA) is mandatory to allow iPSCs utilization, while quality control of mitochondrial DNA (mtDNA) is rarely included in the iPSCs validation process. In this study, we performed mtDNA deep sequencing during the transition from parental fibroblasts to reprogrammed iPSC and to differentiated neuronal precursor cells (NPCs) obtained from controls and patients affected by mitochondrial disorders. At each step, mtDNA variants, including those potentially pathogenic, fluctuate between emerging and disappearing, and some having functional implications. We strongly recommend including mtDNA analysis as an unavoidable assay to obtain fully certified usable iPSCs and NPCs.
    MeSH term(s) Adult ; Aged, 80 and over ; Cell Differentiation/genetics ; Cell Line ; Cells, Cultured ; Cellular Reprogramming/genetics ; Child ; DNA, Mitochondrial/genetics ; Female ; Fibroblasts/cytology ; Fibroblasts/metabolism ; High-Throughput Nucleotide Sequencing/methods ; Humans ; Induced Pluripotent Stem Cells/metabolism ; Male ; Middle Aged ; Mitochondria/genetics ; Mitochondria/metabolism ; Mutation ; Neural Stem Cells/cytology ; Neural Stem Cells/metabolism ; Young Adult
    Chemical Substances DNA, Mitochondrial
    Language English
    Publishing date 2021-07-29
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2720528-9
    ISSN 2213-6711 ; 2213-6711
    ISSN (online) 2213-6711
    ISSN 2213-6711
    DOI 10.1016/j.stemcr.2021.06.016
    Database MEDical Literature Analysis and Retrieval System OnLINE

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