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Consensus-based statements for the management of mitochondrial stroke-like episodes.

Wellcome open research

Ng YS, Bindoff LA, Gorman GS, Horvath R, Klopstock T, Mancuso M, Martikainen MH, Mcfarland R, Nesbitt V, Pitceathly RDS, Schaefer AM, Turnbull DM.
PMID: 32090171
Wellcome Open Res. 2019 Dec 13;4:201. doi: 10.12688/wellcomeopenres.15599.1. eCollection 2019.

No abstract available.

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Ng YS, Bindoff LA, Gorman GS, et al. Consensus-based statements for the management of mitochondrial stroke-like episodes. Wellcome Open Res. 2019;4:201doi: 10.12688/wellcomeopenres.15599.1.
Ng, Y. S., Bindoff, L. A., Gorman, G. S., Horvath, R., Klopstock, T., Mancuso, M., Martikainen, M. H., Mcfarland, R., Nesbitt, V., Pitceathly, R. D. S., Schaefer, A. M., & Turnbull, D. M. (2019). Consensus-based statements for the management of mitochondrial stroke-like episodes. Wellcome open research, 4201. https://doi.org/10.12688/wellcomeopenres.15599.1
Ng, Yi Shiau, et al. "Consensus-based statements for the management of mitochondrial stroke-like episodes." Wellcome open research vol. 4 (2019): 201. doi: https://doi.org/10.12688/wellcomeopenres.15599.1
Ng YS, Bindoff LA, Gorman GS, Horvath R, Klopstock T, Mancuso M, Martikainen MH, Mcfarland R, Nesbitt V, Pitceathly RDS, Schaefer AM, Turnbull DM. Consensus-based statements for the management of mitochondrial stroke-like episodes. Wellcome Open Res. 2019 Dec 13;4:201. doi: 10.12688/wellcomeopenres.15599.1. eCollection 2019. PMID: 32090171; PMCID: PMC7014928.
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Safety and Efficacy of Acetyl-DL-Leucine in Certain Types of Cerebellar Ataxia: The ALCAT Randomized Clinical Crossover Trial.

JAMA network open

Feil K, Adrion C, Boesch S, Doss S, Giordano I, Hengel H, Jacobi H, Klockgether T, Klopstock T, Nachbauer W, Schöls L, Steiner KM, Stendel C, Timmann D, Naumann I, Mansmann U, Strupp M.
PMID: 34905009
JAMA Netw Open. 2021 Dec 01;4(12):e2135841. doi: 10.1001/jamanetworkopen.2021.35841.

IMPORTANCE: Cerebellar ataxia is a neurodegenerative disease impairing motor function characterized by ataxia of stance, gait, speech, and fine motor disturbances.OBJECTIVE: To investigate the efficacy, safety, and tolerability of the modified essential amino acid acetyl-DL-leucine in treating patients who...

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Feil K, Adrion C, Boesch S, et al. Safety and Efficacy of Acetyl-DL-Leucine in Certain Types of Cerebellar Ataxia: The ALCAT Randomized Clinical Crossover Trial. JAMA Netw Open. 2021;4(12):e2135841doi: 10.1001/jamanetworkopen.2021.35841.
Feil, K., Adrion, C., Boesch, S., Doss, S., Giordano, I., Hengel, H., Jacobi, H., Klockgether, T., Klopstock, T., Nachbauer, W., Schöls, L., Steiner, K. M., Stendel, C., Timmann, D., Naumann, I., Mansmann, U., Strupp, M. (2021). Safety and Efficacy of Acetyl-DL-Leucine in Certain Types of Cerebellar Ataxia: The ALCAT Randomized Clinical Crossover Trial. JAMA network open, 4(12), e2135841. https://doi.org/10.1001/jamanetworkopen.2021.35841
Feil, Katharina, et al. "Safety and Efficacy of Acetyl-DL-Leucine in Certain Types of Cerebellar Ataxia: The ALCAT Randomized Clinical Crossover Trial." JAMA network open vol. 4,12 (2021): e2135841. doi: https://doi.org/10.1001/jamanetworkopen.2021.35841
Feil K, Adrion C, Boesch S, Doss S, Giordano I, Hengel H, Jacobi H, Klockgether T, Klopstock T, Nachbauer W, Schöls L, Steiner KM, Stendel C, Timmann D, Naumann I, Mansmann U, Strupp M. Safety and Efficacy of Acetyl-DL-Leucine in Certain Types of Cerebellar Ataxia: The ALCAT Randomized Clinical Crossover Trial. JAMA Netw Open. 2021 Dec 01;4(12):e2135841. doi: 10.1001/jamanetworkopen.2021.35841. PMID: 34905009.
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A comprehensive phenotypic characterization of a whole-body Wdr45 knock-out mouse.

Mammalian genome : official journal of the International Mammalian Genome Society

Biagosch CA, Vidali S, Faerberboeck M, Hensler SV, Becker L, Amarie OV, Aguilar-Pimentel A, Garrett L, Klein-Rodewald T, Rathkolb B, Zanuttigh E, Calzada-Wack J, da Silva-Buttkus P, Rozman J, Treise I, Fuchs H, Gailus-Durner V, de Angelis MH, Janik D, Wurst W, Mayr JA, Klopstock T, Meitinger T, Prokisch H, Iuso A.
PMID: 34043061
Mamm Genome. 2021 Oct;32(5):332-349. doi: 10.1007/s00335-021-09875-3. Epub 2021 May 27.

Pathogenic variants in the WDR45 (OMIM: 300,526) gene on chromosome Xp11 are the genetic cause of a rare neurological disorder characterized by increased iron deposition in the basal ganglia. As WDR45 encodes a beta-propeller scaffold protein with a putative...

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Biagosch CA, Vidali S, Faerberboeck M, et al. A comprehensive phenotypic characterization of a whole-body Wdr45 knock-out mouse. Mamm Genome. 2021;32(5):332-349doi: 10.1007/s00335-021-09875-3.
Biagosch, C. A., Vidali, S., Faerberboeck, M., Hensler, S. V., Becker, L., Amarie, O. V., Aguilar-Pimentel, A., Garrett, L., Klein-Rodewald, T., Rathkolb, B., Zanuttigh, E., Calzada-Wack, J., da Silva-Buttkus, P., Rozman, J., Treise, I., Fuchs, H., Gailus-Durner, V., de Angelis, M. H., Janik, D., Wurst, W., Mayr, J. A., Klopstock, T., Meitinger, T., Prokisch, H., & Iuso, A. (2021). A comprehensive phenotypic characterization of a whole-body Wdr45 knock-out mouse. Mammalian genome : official journal of the International Mammalian Genome Society, 32(5), 332-349. https://doi.org/10.1007/s00335-021-09875-3
Biagosch, Caroline A, et al. "A comprehensive phenotypic characterization of a whole-body Wdr45 knock-out mouse." Mammalian genome : official journal of the International Mammalian Genome Society vol. 32,5 (2021): 332-349. doi: https://doi.org/10.1007/s00335-021-09875-3
Biagosch CA, Vidali S, Faerberboeck M, Hensler SV, Becker L, Amarie OV, Aguilar-Pimentel A, Garrett L, Klein-Rodewald T, Rathkolb B, Zanuttigh E, Calzada-Wack J, da Silva-Buttkus P, Rozman J, Treise I, Fuchs H, Gailus-Durner V, de Angelis MH, Janik D, Wurst W, Mayr JA, Klopstock T, Meitinger T, Prokisch H, Iuso A. A comprehensive phenotypic characterization of a whole-body Wdr45 knock-out mouse. Mamm Genome. 2021 Oct;32(5):332-349. doi: 10.1007/s00335-021-09875-3. Epub 2021 May 27. PMID: 34043061; PMCID: PMC8458197.
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Safety and Efficacy of Acetyl-DL-Leucine in Certain Types of Cerebellar Ataxia: The ALCAT Randomized Clinical Crossover Trial.

JAMA network open

Feil K, Adrion C, Boesch S, Doss S, Giordano I, Hengel H, Jacobi H, Klockgether T, Klopstock T, Nachbauer W, Schöls L, Steiner KM, Stendel C, Timmann D, Naumann I, Mansmann U, Strupp M.
PMID: 34905009
JAMA Netw Open. 2021 Dec 01;4(12):e2135841. doi: 10.1001/jamanetworkopen.2021.35841.

IMPORTANCE: Cerebellar ataxia is a neurodegenerative disease impairing motor function characterized by ataxia of stance, gait, speech, and fine motor disturbances.OBJECTIVE: To investigate the efficacy, safety, and tolerability of the modified essential amino acid acetyl-DL-leucine in treating patients who...

Cite
Feil K, Adrion C, Boesch S, et al. Safety and Efficacy of Acetyl-DL-Leucine in Certain Types of Cerebellar Ataxia: The ALCAT Randomized Clinical Crossover Trial. JAMA Netw Open. 2021;4(12):e2135841doi: 10.1001/jamanetworkopen.2021.35841.
Feil, K., Adrion, C., Boesch, S., Doss, S., Giordano, I., Hengel, H., Jacobi, H., Klockgether, T., Klopstock, T., Nachbauer, W., Schöls, L., Steiner, K. M., Stendel, C., Timmann, D., Naumann, I., Mansmann, U., Strupp, M. (2021). Safety and Efficacy of Acetyl-DL-Leucine in Certain Types of Cerebellar Ataxia: The ALCAT Randomized Clinical Crossover Trial. JAMA network open, 4(12), e2135841. https://doi.org/10.1001/jamanetworkopen.2021.35841
Feil, Katharina, et al. "Safety and Efficacy of Acetyl-DL-Leucine in Certain Types of Cerebellar Ataxia: The ALCAT Randomized Clinical Crossover Trial." JAMA network open vol. 4,12 (2021): e2135841. doi: https://doi.org/10.1001/jamanetworkopen.2021.35841
Feil K, Adrion C, Boesch S, Doss S, Giordano I, Hengel H, Jacobi H, Klockgether T, Klopstock T, Nachbauer W, Schöls L, Steiner KM, Stendel C, Timmann D, Naumann I, Mansmann U, Strupp M. Safety and Efficacy of Acetyl-DL-Leucine in Certain Types of Cerebellar Ataxia: The ALCAT Randomized Clinical Crossover Trial. JAMA Netw Open. 2021 Dec 01;4(12):e2135841. doi: 10.1001/jamanetworkopen.2021.35841. PMID: 34905009; PMCID: PMC8672236.
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Intravitreal Gene Therapy vs. Natural History in Patients With Leber Hereditary Optic Neuropathy Carrying the m.11778G>A .

Frontiers in neurology

Newman NJ, Yu-Wai-Man P, Carelli V, Biousse V, Moster ML, Vignal-Clermont C, Sergott RC, Klopstock T, Sadun AA, Girmens JF, La Morgia C, DeBusk AA, Jurkute N, Priglinger C, Karanjia R, Josse C, Salzmann J, Montestruc F, Roux M, Taiel M, Sahel JA.
PMID: 34108929
Front Neurol. 2021 May 24;12:662838. doi: 10.3389/fneur.2021.662838. eCollection 2021.

No abstract available.

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Newman NJ, Yu-Wai-Man P, Carelli V, et al. Intravitreal Gene Therapy vs. Natural History in Patients With Leber Hereditary Optic Neuropathy Carrying the m.11778G>A . Front Neurol. 2021;12:662838doi: 10.3389/fneur.2021.662838.
Newman, N. J., Yu-Wai-Man, P., Carelli, V., Biousse, V., Moster, M. L., Vignal-Clermont, C., Sergott, R. C., Klopstock, T., Sadun, A. A., Girmens, J. F., La Morgia, C., DeBusk, A. A., Jurkute, N., Priglinger, C., Karanjia, R., Josse, C., Salzmann, J., Montestruc, F., Roux, M., Taiel, M., & Sahel, J. A. (2021). Intravitreal Gene Therapy vs. Natural History in Patients With Leber Hereditary Optic Neuropathy Carrying the m.11778G>A . Frontiers in neurology, 12662838. https://doi.org/10.3389/fneur.2021.662838
Newman, Nancy J, et al. "Intravitreal Gene Therapy vs. Natural History in Patients With Leber Hereditary Optic Neuropathy Carrying the m.11778G>A ." Frontiers in neurology vol. 12 (2021): 662838. doi: https://doi.org/10.3389/fneur.2021.662838
Newman NJ, Yu-Wai-Man P, Carelli V, Biousse V, Moster ML, Vignal-Clermont C, Sergott RC, Klopstock T, Sadun AA, Girmens JF, La Morgia C, DeBusk AA, Jurkute N, Priglinger C, Karanjia R, Josse C, Salzmann J, Montestruc F, Roux M, Taiel M, Sahel JA. Intravitreal Gene Therapy vs. Natural History in Patients With Leber Hereditary Optic Neuropathy Carrying the m.11778G>A . Front Neurol. 2021 May 24;12:662838. doi: 10.3389/fneur.2021.662838. eCollection 2021. PMID: 34108929; PMCID: PMC8181419.
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Long-Term Follow-Up After Unilateral Intravitreal Gene Therapy for Leber Hereditary Optic Neuropathy: The RESTORE Study.

Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society

Biousse V, Newman NJ, Yu-Wai-Man P, Carelli V, Moster ML, Vignal-Clermont C, Klopstock T, Sadun AA, Sergott RC, Hage R, Esposti S, La Morgia C, Priglinger C, Karanja R, Blouin L, Taiel M, Sahel JA.
PMID: 34415265
J Neuroophthalmol. 2021 Sep 01;41(3):309-315. doi: 10.1097/WNO.0000000000001367.

BACKGROUND: RESCUE and REVERSE were 2 Phase 3 clinical trials that assessed the efficacy and safety of intravitreal gene therapy with lenadogene nolparvovec (rAAV2/2-ND4) for the treatment of Leber hereditary optic neuropathy (LHON). RESTORE is the long-term follow-up study...

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Biousse V, Newman NJ, Yu-Wai-Man P, et al. Long-Term Follow-Up After Unilateral Intravitreal Gene Therapy for Leber Hereditary Optic Neuropathy: The RESTORE Study. J Neuroophthalmol. 2021;41(3):309-315doi: 10.1097/WNO.0000000000001367.
Biousse, V., Newman, N. J., Yu-Wai-Man, P., Carelli, V., Moster, M. L., Vignal-Clermont, C., Klopstock, T., Sadun, A. A., Sergott, R. C., Hage, R., Esposti, S., La Morgia, C., Priglinger, C., Karanja, R., Blouin, L., Taiel, M., Sahel, J. A. (2021). Long-Term Follow-Up After Unilateral Intravitreal Gene Therapy for Leber Hereditary Optic Neuropathy: The RESTORE Study. Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society, 41(3), 309-315. https://doi.org/10.1097/WNO.0000000000001367
Biousse, Valérie, et al. "Long-Term Follow-Up After Unilateral Intravitreal Gene Therapy for Leber Hereditary Optic Neuropathy: The RESTORE Study." Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society vol. 41,3 (2021): 309-315. doi: https://doi.org/10.1097/WNO.0000000000001367
Biousse V, Newman NJ, Yu-Wai-Man P, Carelli V, Moster ML, Vignal-Clermont C, Klopstock T, Sadun AA, Sergott RC, Hage R, Esposti S, La Morgia C, Priglinger C, Karanja R, Blouin L, Taiel M, Sahel JA. Long-Term Follow-Up After Unilateral Intravitreal Gene Therapy for Leber Hereditary Optic Neuropathy: The RESTORE Study. J Neuroophthalmol. 2021 Sep 01;41(3):309-315. doi: 10.1097/WNO.0000000000001367. PMID: 34415265; PMCID: PMC8366761.
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Delineating .

Neurology. Genetics

Stendel C, Neuhofer C, Floride E, Yuqing S, Ganetzky RD, Park J, Freisinger P, Kornblum C, Kleinle S, Schöls L, Distelmaier F, Stettner GM, Büchner B, Falk MJ, Mayr JA, Synofzik M, Abicht A, Haack TB, Prokisch H, Wortmann SB, Murayama K, Fang F, Klopstock T.
PMID: 32042921
Neurol Genet. 2020 Jan 13;6(1):e393. doi: 10.1212/NXG.0000000000000393. eCollection 2020 Feb.

OBJECTIVE: To delineate the phenotypic and genotypic spectrum in carriers of mitochondrial METHODS: We analyzed in detail the clinical, genetical, and neuroimaging data from 132 mutation carriers from national registries and local databases from Europe, USA, Japan, and China.RESULTS:...

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Stendel C, Neuhofer C, Floride E, et al. Delineating . Neurol Genet. 2020;6(1):e393doi: 10.1212/NXG.0000000000000393.
Stendel, C., Neuhofer, C., Floride, E., Yuqing, S., Ganetzky, R. D., Park, J., Freisinger, P., Kornblum, C., Kleinle, S., Schöls, L., Distelmaier, F., Stettner, G. M., Büchner, B., Falk, M. J., Mayr, J. A., Synofzik, M., Abicht, A., Haack, T. B., Prokisch, H., Wortmann, S. B., Murayama, K., Fang, F., Klopstock, T. (2020). Delineating . Neurology. Genetics, 6(1), e393. https://doi.org/10.1212/NXG.0000000000000393
Stendel, Claudia, et al. "Delineating ." Neurology. Genetics vol. 6,1 (2020): e393. doi: https://doi.org/10.1212/NXG.0000000000000393
Stendel C, Neuhofer C, Floride E, Yuqing S, Ganetzky RD, Park J, Freisinger P, Kornblum C, Kleinle S, Schöls L, Distelmaier F, Stettner GM, Büchner B, Falk MJ, Mayr JA, Synofzik M, Abicht A, Haack TB, Prokisch H, Wortmann SB, Murayama K, Fang F, Klopstock T. Delineating . Neurol Genet. 2020 Jan 13;6(1):e393. doi: 10.1212/NXG.0000000000000393. eCollection 2020 Feb. PMID: 32042921; PMCID: PMC6975175.
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The phenotype associated with variants in TANGO2 may be explained by a dual role of the protein in ER-to-Golgi transport and at the mitochondria.

Journal of inherited metabolic disease

Milev MP, Saint-Dic D, Zardoui K, Klopstock T, Law C, Distelmaier F, Sacher M.
PMID: 32909282
J Inherit Metab Dis. 2021 Mar;44(2):426-437. doi: 10.1002/jimd.12312. Epub 2020 Sep 21.

TANGO2 variants result in a complex disease phenotype consisting of recurrent crisis-induced rhabdomyolysis, encephalopathy, seizures, lactic acidosis, hypoglycemia, and cardiac arrhythmias. Although first described in a fruit fly model as a protein necessary for some aspect of Golgi function...

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Milev MP, Saint-Dic D, Zardoui K, et al. The phenotype associated with variants in TANGO2 may be explained by a dual role of the protein in ER-to-Golgi transport and at the mitochondria. J Inherit Metab Dis. 2020;44(2):426-437doi: 10.1002/jimd.12312.
Milev, M. P., Saint-Dic, D., Zardoui, K., Klopstock, T., Law, C., Distelmaier, F., & Sacher, M. (2021). The phenotype associated with variants in TANGO2 may be explained by a dual role of the protein in ER-to-Golgi transport and at the mitochondria. Journal of inherited metabolic disease, 44(2), 426-437. https://doi.org/10.1002/jimd.12312
Milev, Miroslav P, et al. "The phenotype associated with variants in TANGO2 may be explained by a dual role of the protein in ER-to-Golgi transport and at the mitochondria." Journal of inherited metabolic disease vol. 44,2 (2021): 426-437. doi: https://doi.org/10.1002/jimd.12312
Milev MP, Saint-Dic D, Zardoui K, Klopstock T, Law C, Distelmaier F, Sacher M. The phenotype associated with variants in TANGO2 may be explained by a dual role of the protein in ER-to-Golgi transport and at the mitochondria. J Inherit Metab Dis. 2021 Mar;44(2):426-437. doi: 10.1002/jimd.12312. Epub 2020 Sep 21. PMID: 32909282.
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A Scale to Assess Activities of Daily Living in Pantothenate Kinase-Associated Neurodegeneration.

Movement disorders clinical practice

Marshall RD, Collins A, Escolar ML, Jinnah HA, Klopstock T, Kruer MC, Videnovic A, Robichaux-Viehoever A, Swett L, Revicki DA, Bender RH, Lenderking WR.
PMID: 30838313
Mov Disord Clin Pract. 2019 Jan 22;6(2):139-149. doi: 10.1002/mdc3.12716. eCollection 2019 Feb.

OBJECTIVE: Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal-recessive, neurodegenerative disorder with a mixed-motor phenotype caused by a defective PanK2 enzyme, for which there are few adequate treatment options. Clinimetrically sound measures of patient-reported outcomes are necessary to facilitate therapeutic...

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Marshall RD, Collins A, Escolar ML, et al. A Scale to Assess Activities of Daily Living in Pantothenate Kinase-Associated Neurodegeneration. Mov Disord Clin Pract. 2019;6(2):139-149doi: 10.1002/mdc3.12716.
Marshall, R. D., Collins, A., Escolar, M. L., Jinnah, H. A., Klopstock, T., Kruer, M. C., Videnovic, A., Robichaux-Viehoever, A., Swett, L., Revicki, D. A., Bender, R. H., & Lenderking, W. R. (2019). A Scale to Assess Activities of Daily Living in Pantothenate Kinase-Associated Neurodegeneration. Movement disorders clinical practice, 6(2), 139-149. https://doi.org/10.1002/mdc3.12716
Marshall, Randall D, et al. "A Scale to Assess Activities of Daily Living in Pantothenate Kinase-Associated Neurodegeneration." Movement disorders clinical practice vol. 6,2 (2019): 139-149. doi: https://doi.org/10.1002/mdc3.12716
Marshall RD, Collins A, Escolar ML, Jinnah HA, Klopstock T, Kruer MC, Videnovic A, Robichaux-Viehoever A, Swett L, Revicki DA, Bender RH, Lenderking WR. A Scale to Assess Activities of Daily Living in Pantothenate Kinase-Associated Neurodegeneration. Mov Disord Clin Pract. 2019 Jan 22;6(2):139-149. doi: 10.1002/mdc3.12716. eCollection 2019 Feb. PMID: 30838313; PMCID: PMC6384181.
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Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C?.

Orphanet journal of rare diseases

Sobrido MJ, Bauer P, de Koning T, Klopstock T, Nadjar Y, Patterson MC, Synofzik M, Hendriksz CJ.
PMID: 30665446
Orphanet J Rare Dis. 2019 Jan 21;14(1):20. doi: 10.1186/s13023-018-0985-1.

BACKGROUND: Rare and ultra-rare diseases (URDs) are often chronic and life-threatening conditions that have a profound impact on sufferers and their families, but many are notoriously difficult to detect. Niemann-Pick disease type C (NP-C) serves to illustrate the challenges,...

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Sobrido MJ, Bauer P, de Koning T, et al. Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C?. Orphanet J Rare Dis. 2019;14(1):20doi: 10.1186/s13023-018-0985-1.
Sobrido, M. J., Bauer, P., de Koning, T., Klopstock, T., Nadjar, Y., Patterson, M. C., Synofzik, M., & Hendriksz, C. J. (2019). Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C?. Orphanet journal of rare diseases, 14(1), 20. https://doi.org/10.1186/s13023-018-0985-1
Sobrido, María-Jesús, et al. "Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C?." Orphanet journal of rare diseases vol. 14,1 (2019): 20. doi: https://doi.org/10.1186/s13023-018-0985-1
Sobrido MJ, Bauer P, de Koning T, Klopstock T, Nadjar Y, Patterson MC, Synofzik M, Hendriksz CJ. Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C?. Orphanet J Rare Dis. 2019 Jan 21;14(1):20. doi: 10.1186/s13023-018-0985-1. PMID: 30665446; PMCID: PMC6341610.
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Erythrocyte Encapsulated Thymidine Phosphorylase for the Treatment of Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy: Study Protocol for a Multi-Centre, Multiple Dose, Open Label Trial.

Journal of clinical medicine

Bax BE, Levene M, Bain MD, Fairbanks LD, Filosto M, Kalkan Uçar S, Klopstock T, Kornblum C, Mandel H, Rahman S, Roubertie A, Scarpelli M, Sedgwick PM, Baru M, Sellos-Moura M, Price J, Horn P, Nirmalananthan N.
PMID: 31344955
J Clin Med. 2019 Jul 24;8(8). doi: 10.3390/jcm8081096.

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder which primarily affects the gastrointestinal and nervous systems. This disease is caused by mutations in the nuclear

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Bax BE, Levene M, Bain MD, et al. Erythrocyte Encapsulated Thymidine Phosphorylase for the Treatment of Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy: Study Protocol for a Multi-Centre, Multiple Dose, Open Label Trial. J Clin Med. 2019;8(8)doi: 10.3390/jcm8081096.
Bax, B. E., Levene, M., Bain, M. D., Fairbanks, L. D., Filosto, M., Kalkan Uçar, S., Klopstock, T., Kornblum, C., Mandel, H., Rahman, S., Roubertie, A., Scarpelli, M., Sedgwick, P. M., Baru, M., Sellos-Moura, M., Price, J., Horn, P., & Nirmalananthan, N. (2019). Erythrocyte Encapsulated Thymidine Phosphorylase for the Treatment of Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy: Study Protocol for a Multi-Centre, Multiple Dose, Open Label Trial. Journal of clinical medicine, 8(8), . https://doi.org/10.3390/jcm8081096
Bax, Bridget E, et al. "Erythrocyte Encapsulated Thymidine Phosphorylase for the Treatment of Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy: Study Protocol for a Multi-Centre, Multiple Dose, Open Label Trial." Journal of clinical medicine vol. 8,8 (2019). doi: https://doi.org/10.3390/jcm8081096
Bax BE, Levene M, Bain MD, Fairbanks LD, Filosto M, Kalkan Uçar S, Klopstock T, Kornblum C, Mandel H, Rahman S, Roubertie A, Scarpelli M, Sedgwick PM, Baru M, Sellos-Moura M, Price J, Horn P, Nirmalananthan N. Erythrocyte Encapsulated Thymidine Phosphorylase for the Treatment of Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy: Study Protocol for a Multi-Centre, Multiple Dose, Open Label Trial. J Clin Med. 2019 Jul 24;8(8). doi: 10.3390/jcm8081096. PMID: 31344955; PMCID: PMC6722784.
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Emerging Disease-Modifying Therapies in Neurodegeneration With Brain Iron Accumulation (NBIA) Disorders.

Frontiers in neurology

Iankova V, Karin I, Klopstock T, Schneider SA.
PMID: 33935938
Front Neurol. 2021 Apr 15;12:629414. doi: 10.3389/fneur.2021.629414. eCollection 2021.

Neurodegeneration with Brain Iron Accumulation (NBIA) is a heterogeneous group of progressive neurodegenerative diseases characterized by iron deposition in the globus pallidus and the substantia nigra. As of today, 15 distinct monogenetic disease entities have been identified. The four...

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Iankova V, Karin I, Klopstock T, et al. Emerging Disease-Modifying Therapies in Neurodegeneration With Brain Iron Accumulation (NBIA) Disorders. Front Neurol. 2021;12:629414doi: 10.3389/fneur.2021.629414.
Iankova, V., Karin, I., Klopstock, T., & Schneider, S. A. (2021). Emerging Disease-Modifying Therapies in Neurodegeneration With Brain Iron Accumulation (NBIA) Disorders. Frontiers in neurology, 12629414. https://doi.org/10.3389/fneur.2021.629414
Iankova, Vassilena, et al. "Emerging Disease-Modifying Therapies in Neurodegeneration With Brain Iron Accumulation (NBIA) Disorders." Frontiers in neurology vol. 12 (2021): 629414. doi: https://doi.org/10.3389/fneur.2021.629414
Iankova V, Karin I, Klopstock T, Schneider SA. Emerging Disease-Modifying Therapies in Neurodegeneration With Brain Iron Accumulation (NBIA) Disorders. Front Neurol. 2021 Apr 15;12:629414. doi: 10.3389/fneur.2021.629414. eCollection 2021. PMID: 33935938; PMCID: PMC8082061.
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