Enzyme replacement therapy for CLN2 disease: MRI volumetry shows significantly slower volume loss compared to a natural history cohort
Gaur P, Gissen P, Biswas A, Mankad K, Sudhakar S, D'Arco F, Schulz A, Fiehler J, Sedlacik J, Löbel U
AM J NEURORADIOL. 2024;45(11):1791-1797.

Peripapillary Retinal Nerve Fiber Layer (pRNFL) Thickness - A Novel Biomarker of Neurodegeneration in Late-Infantile CLN2 Disease
Gkalapis N, Dulz S, Grohmann C, Nickel M, Schwering C, Wibbeler E, Spitzer M, Schulz A, Atiskova Y
EYE BRAIN. 2024;16:101-113.

OCT Biomarkers in Ocular CLN2 Disease in Patients Treated With Intraventricular Enzyme Replacement Therapy
Huang W, Ohnsman C, Atiskova Y, Falabella P, Spitzer M, Schulz A, Dulz S
INVEST OPHTH VIS SCI. 2024;65(8):45.

The parent and family impact of CLN3 disease: an observational survey-based study
Schulz A, Patel N, Brudvig J, Stehr F, Weimer J, Augustine E
ORPHANET J RARE DIS. 2024;19(1):125.

Safety and efficacy of cerliponase alfa in children with neuronal ceroid lipofuscinosis type 2 (CLN2 disease): an open-label extension study
Schulz A, Specchio N, de Los Reyes E, Gissen P, Nickel M, Trivisano M, Aylward S, Chakrapani A, Schwering C, Wibbeler E, Westermann L, Ballon D, Dyke J, Cherukuri A, Bondade S, Slasor P, Cohen Pfeffer J
LANCET NEUROL. 2024;23(1):60-70.

Exploring concurrent validity of the CLN2 Clinical Rating Scale: Comparison to PedsQL using cerliponase alfa clinical trial data
Specchio N, Gissen P, de Los Reyes E, Olaye A, Camp C, Curteis T, Griffiths A, Butt T, Cohen-Pfeffer J, Slasor P, Sisic Z, Jain M, Schulz A
PLOS ONE. 2024;19(5):.

Ongoing retinal degeneration despite intraventricular enzyme replacement therapy with cerliponase alfa in late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2 disease)
Dulz S, Schwering C, Wildner J, Spartalis C, Schuettauf F, Bartsch U, Wibbeler E, Nickel M, Spitzer M, Atiskova Y, Schulz A
BRIT J OPHTHALMOL. 2023;107(10):1478-1483.

Language Delay in Patients with CLN2 Disease: Could It Support Earlier Diagnosis?
Nickel M, Gissen P, Greenaway R, Cappelletti S, Hamborg C, Ragni B, Ribitzki T, Schulz A, Tondo I, Specchio N
NEUROPEDIATRICS. 2023;54(6):402-406.

Visual perception and macular integrity in non-classical CLN2 disease
Atiskova Y, Wildner J, Wibbeler E, Nickel M, Spitzer M, Schwering C, Schulz A, Dulz S
GRAEF ARCH CLIN EXP. 2022;260(11):3693-3700.

Natural history of MRI brain volumes in patients with neuronal ceroid lipofuscinosis 3: a sensitive imaging biomarker
Hochstein J, Schulz A, Nickel M, Lezius S, Grosser M, Fiehler J, Sedlacik J, Löbel U
NEURORADIOLOGY. 2022;64(10):2059-2067.

Natural History Studies in NCL and Their Expanding Role in Drug Development: Experiences From CLN2 Disease and Relevance for Clinical Trials
Nickel M, Schulz A
FRONT NEUROL. 2022;13:.

Therapeutic Management of COVID-19 in a Pediatric Patient with Neurodegenerative CLN2 Disease and ICV-Enzyme Replacement Therapy: A Case Report
Schwering C, Apostolidou S, Deindl P, Christner M, Knobloch J, Herrmann J, Kobbe R, Schulz A, Singer D, Ebenebe C
NEUROPEDIATRICS. 2022;53(5):381-384.

The Unified Batten Disease Rating Scale (UBDRS): Validation and reliability in an independent CLN3 disease sample
Wibbeler E, Nickel M, Schwering C, Schulz A, Mink J
EUR J PAEDIATR NEURO. 2022;38:62-65.

Management of CLN1 Disease: International Clinical Consensus
Augustine E, Adams H, de Los Reyes E, Drago K, Frazier M, Guelbert N, Laine M, Levin T, Mink J, Nickel M, Peifer D, Schulz A, Simonati A, Topcu M, Turunen J, Williams R, Wirrell E, King S
PEDIATR NEUROL. 2021;120:38-51.

Investigating health-related quality of life in rare diseases:a case study in utility value determination for patients with CLN2 disease (neuronal ceroid lipofuscinosis type 2)
Gissen P, Specchio N, Olaye A, Jain M, Butt T, Ghosh W, Ruban-Fell B, Griffiths A, Camp C, Sisic Z, Schwering C, Wibbeler E, Trivisano M, Lee L, Nickel M, Mortensen A, Schulz A
ORPHANET J RARE DIS. 2021;16(1):.

Clinical Pharmacokinetics and Pharmacodynamics of Cerliponase Alfa, Enzyme Replacement Therapy for CLN2 Disease by Intracerebroventricular Administration
Kim A, Grover A, Hammon K, de Hart G, Slasor P, Cherukuri A, Ajayi T, Jacoby D, Schulz A, Specchio N, de Los Reyes E, Gissen P, Henshaw J
CTS-CLIN TRANSL SCI. 2021;14(2):635-644.

Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients
Mole S, Schulz A, Badoe E, Berkovic S, de Los Reyes E, Dulz S, Gissen P, Guelbert N, Lourenco C, Mason H, Mink J, Murphy N, Nickel M, Olaya J, Scarpa M, Scheffer I, Simonati A, Specchio N, Von Löbbecke I, Wang R, Williams R
ORPHANET J RARE DIS. 2021;16(1):.

Development of the "Hamburg Best Practice Guidelines for ICV-Enzyme Replacement therapy (ERT) in CLN2 Disease" Based on 6 Years Treatment Experience in 48 Patients
Schwering C, Kammler G, Wibbeler E, Christner M, Knobloch J, Nickel M, Denecke J, Baehr M, Schulz A
J CHILD NEUROL. 2021;36(8):635-641.

Cerliponase Alfa for the Treatment of Atypical Phenotypes of CLN2 Disease:A Retrospective Case Series
Wibbeler E, Wang R, Reyes E, Specchio N, Gissen P, Guelbert N, Nickel M, Schwering C, Lehwald L, Trivisano M, Lee L, Amato G, Cohen-Pfeffer J, Shediac R, Leal-Pardinas F, Schulz A
J CHILD NEUROL. 2021;36(6):468-474.

An ophthalmic rating scale to assess ocular involvement in juvenile CLN3 disease
Dulz S, Atiskova Y, Wibbeler E, Wildner J, Wagenfeld L, Schwering C, Nickel M, Bartsch U, Spitzer M, Schulz A
AM J OPHTHALMOL. 2020;(220):64-71.

Enzymatic diagnosis of neuronal lipofuscinoses in dried blood spots using substrates for concomitant tandem mass spectrometry and fluorimetry
Maeser S, Petre B, Ion L, Rawer S, Kohlschütter A, Santorelli F, Simonati A, Schulz A, Przybylski M
J MASS SPECTROM. 2020;56(1):.

Cardiac pathology in neuronal ceroid lipofuscinoses (NCL): More than a mere co-morbidity
Rietdorf K, Coode E, Schulz A, Wibbeler E, Bootman M, Ostergaard J
BBA-MOL BASIS DIS. 2020;1866(9):.

Patient reported outcomes in Friedreich's Ataxia after withdrawal from Idebenone
Cook A, Boesch S, Heck S, Brunt E, Klockgether T, Schöls L, Schulz A, Giunti P
ACTA NEUROL SCAND. 2019;139(6):533-539.

Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease
Gardner E, Bailey M, Schulz A, Aristorena M, Miller N, Mole S
HUM MUTAT. 2019;40(11):1924-1938.

Current and Emerging Treatment Strategies for Neuronal Ceroid Lipofuscinoses
Kohlschütter A, Schulz A, Bartsch U, Storch S
CNS DRUGS. 2019;33(4):315-325.

Validity of a rapid and simple fluorometric tripeptidyl peptidase 1 (TPP1) assay using dried blood specimens to diagnose CLN2 disease
Lukacs Z, Nickel M, Murko S, Nieves Cobos P, Schulz A, Santer R, Kohlschütter A
CLIN CHIM ACTA. 2019;492:69-71.

Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis
Mole S, Anderson G, Band H, Berkovic S, Cooper J, Kleine Holthaus S, McKay T, Medina D, Rahim A, Schulz A, Smith A
LANCET NEUROL. 2019;18(1):107-116.

Lysosomal proteome analysis reveals that CLN3-defective cells have multiple enzyme deficiencies associated with changes in intracellular trafficking
Schmidtke C, Tiede S, Thelen M, Käkelä R, Jabs S, Makrypidi G, Sylvester M, Schweizer M, Braren I, Brocke-Ahmadinejad N, Cotman S, Schulz A, Gieselmann V, Braulke T
J BIOL CHEM. 2019;294(24):9592-9604.

Disease characteristics and progression in patients with late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease: an observational cohort study
Nickel M, Simonati A, Jacoby D, Lezius S, Kilian D, Van de Graaf B, Pagovich O, Kosofsky B, Yohay K, Downs M, Slasor P, Ajayi T, Crystal R, Kohlschütter A, Sondhi D, Schulz A
LANCET CHILD ADOLESC. 2018;2(8):582-590.

Autophagic vacuolar myopathy is a common feature in CLN3 disease
Radke J, Koll R, Gill E, Wiese L, Schulz A, Kohlschütter A, Schuelke M, Hagel C, Stenzel W, Goebel H
ANN CLIN TRANSL NEUR. 2018;5(11):1385-1393.

Study of Intraventricular Cerliponase Alfa for CLN2 Disease
Schulz A, Ajayi T, Specchio N, de Los Reyes E, Gissen P, Ballon D, Dyke J, Cahan H, Slasor P, Jacoby D, Kohlschütter A
NEW ENGL J MED. 2018;378(20):1898-1907.

Neurodegenerative Erkrankungen des Kindesalters
Schulz A, Nickel M
MED GENET-BERLIN. 2018;30(2):231-237.

An Adapted Clinical Measurement Tool for the Key Symptoms of CLN2 Disease
Wyrwich K, Schulz A, Nickel M, Slasor P, Ajayi T, Jacoby D, Kohlschütter A
J Inborn Err Metab Scr (JIEMS). 2018;6:1-7.

Treatment of brain disease in the mucopolysaccharidoses
Scarpa M, orchard p, Schulz A, Dickson P, Haskins M, Escolar M, Giugliani R
MOL GENET METAB. 2017;122S:25-34.

Phenotype and natural history of variant late infantile ceroid-lipofuscinosis 5
Simonati A, Williams R, Nardocci N, Laine M, Battini R, Schulz A, Garavaglia B, Moro M, Pezzini F, Santorelli F
DEV MED CHILD NEUROL. 2017;59(8):815-821.

Management Strategies for CLN2 Disease
Williams R, Adams H, Blohm M, Cohen-Pfeffer J, de Los Reyes E, Denecke J, Drago K, Fairhurst C, Frazier M, Guelbert N, Kiss S, Kofler A, Lawson J, Lehwald L, Leung M, Mikhaylova S, Mink J, Nickel M, Shediac R, Sims K, Specchio N, Topcu M, von Löbbecke I, West A, Zernikow B, Schulz A
PEDIATR NEUROL. 2017;69:102-112.

Novel morphological macular findings in juvenile CLN3 disease
Dulz S, Wagenfeld L, Nickel M, Richard G, Schwartz R, Bartsch U, Kohlschütter A, Schulz A
BRIT J OPHTHALMOL. 2016;100(6):824-8.

Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis
Fietz M, AlSayed M, Burke D, Cohen-Pfeffer J, Cooper J, Dvořáková L, Giugliani R, Izzo E, Jahnová H, Lukacs Z, Mole S, Noher de Halac I, Pearce D, Poupetova H, Schulz A, Specchio N, Xin W, Miller N
MOL GENET METAB. 2016;119(1-2):160-7.

Considering Valproate as a Risk Factor for Rapid Exacerbation of Complex Movement Disorder in Progressed Stages of Late-Infantile CLN2 Disease
Johannsen J, Nickel M, Schulz A, Denecke J
NEUROPEDIATRICS. 2016;47(3):194-6.

CLN2 Disease (Classic Late Infantile Neuronal Ceroid Lipofuscinosis)
Kohlschütter A, Schulz A
PEDIATR ENDOCRINOL REV. 2016;13 (Suppl 1):682-8.

Volumetric Description of Brain Atrophy in Neuronal Ceroid Lipofuscinosis 2: Supratentorial Gray Matter Shows Uniform Disease Progression
Löbel U, Sedlacik J, Nickel M, Lezius S, Fiehler J, Nestrasil I, Kohlschütter A, Schulz A
AM J NEURORADIOL. 2016;37(10):1938 – 1943.

Phenotyping heterozygous carriers of juvenile neuronal ceroid lipofuscinosis with CLN3 mutations
Bergholz R, Kohlschütter A, Schulz A, Hubert W, Rüther K
GRAEF ARCH CLIN EXP. 2015;253(8):1245-1250.

Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway
Di Fruscio G, Schulz A, De Cegli R, Savarese M, Mutarelli M, Parenti G, Banfi S, Braulke T, Nigro V, Ballabio A
AUTOPHAGY. 2015;11(6):928-38.

Ethical issues with artificial nutrition of children with degenerative brain diseases
Kohlschütter A, Riga C, Crespo D, Torres J, Penchaszadeh V, Schulz A
BBA-MOL BASIS DIS. 2015;1852(7):1253-1256.

Reprint of "Ethical issues with artificial nutrition of children with degenerative brain diseases"
Kohlschütter A, Riga C, Crespo D, Torres J, Penchaszadeh V, Schulz A
BBA-MOL BASIS DIS. 2015;1852(10 Pt B):2312-5.

Demenzerkrankungen bei Kindern und Jugendlichen
Kohlschütter A, Schulz A, Bley A, Nickel M, Richterich A
Päd Praxis. 2015;83:561-570.

Epilepsy in Neuronal Ceroid Lipofuscinoses (NCL)
Kohlschütter A, Schulz A, Denecke J
J Pediatr Epilepsy. 2014;3:199-206.

Brain iron quantification by MRI in mitochondrial membrane protein-associated neurodegeneration under iron-chelating therapy
Löbel U, Schweser F, Nickel M, Deistung A, Grosse R, Hagel C, Fiehler J, Schulz A, Hartig M, Reichenbach J, Kohlschütter A, Sedlacik J
ANN CLIN TRANSL NEUR. 2014;1(12):1041-6.

Unexplained Loss of Vision in a Child:: Consider Bilateral Primary Optic Nerve Sheath Meningioma
Nickel M, Löbel U, Holst B, Kammler G, Matschke J, Schulz A, Kohlschütter A
NEUROPEDIATRICS. 2014;45(5):321-4.

Quantitative t2 measurements in juvenile and late infantile neuronal ceroid lipofuscinosis.
Bravo A, Forkert N, Schulz A, Löbel U, Fiehler J, Ding X, Sedlacik J, Rosenkranz M, Goebell E
CLIN NEURORADIOL. 2013;23(3):189-196.

NCL Disorders: Frequent Causes of Childhood Dementia
Schulz A, Kohlschütter A
IRAN J CHILD NEUROL. 2013;7(1):1-8.

NCL diseases - clinical perspectives
Schulz A, Kohlschütter A, Mink J, Simonati A, Williams R
BBA-MOL BASIS DIS. 2013;1832(11):1801-6.

Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene
Kousi M, Anttila V, Schulz A, Calafato S, Jakkula E, Riesch E, Myllykangas L, Kalimo H, Topçu M, Gökben S, Alehan F, Lemke J, Alber M, Palotie A, Kopra O, Lehesjoki A
J MED GENET. 2012;49(6):391-9.

Neuronale Zeroidlipofuszinosen (NCL) - Metabolische Demenzkrankheiten im Kindesalter
Schulz A, Kohlschütter A
MONATSSCHR KINDERH. 2012;160:734-741.

CLN2
Chang M, Cooper J, Davidson B, van Diggelen O, Elleder M, Goebel H, Golabek A, Kida E, Kohlschütter A, Lobel P, Mole S, Schulz A, Sleat D, Warburton M, Wisniewski K
2011. The Neuronal Ceroid Lipofuscinoses (Batten Disease). Oxford University Press, .

Analysis of Potential Biomarkers and Modifier Genes Affecting the Clinical Course of CLN3 Disease.
Lebrun A, Moll-Khasrawi P, Pohl S, Makrypidi G, Storch S, Kilian D, Streichert T, Otto B, Mole S, Ullrich K, Cotman S, Kohlschütter A, Braulke T, Schulz A
MOL MED. 2011;17(11-12):1253-1261.

Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibship.
Lebrun A, Storch S, Rüschendorf F, Schmiedt M, Kyttälä A, Mole S, Kitzmüller C, Saar K, Mewasingh L, Boda V, Kohlschütter A, Ullrich K, Braulke T, Schulz A
HUM MUTAT. 2009;30(5):651-661.

The CLN9 protein, a regulator of dihydroceramide synthase.
Schulz A, Mousallem T, Venkataramani M, Persaud-Sawin D, Zucker A, Luberto C, Bielawska A, Bielawski J, Holthuis J, Jazwinski S, Kozhaya L, Dbaibo G, Boustany R
J BIOL CHEM. 2006;281(5):2784-2794.

Impaired cell adhesion and apoptosis in a novel CLN9 Batten disease variant.
Schulz A, Dhar S, Rylova S, Dbaibo G, Alroy J, Hagel C, Artacho I, Kohlschütter A, Lin S, Boustany R
ANN NEUROL. 2004;56(3):342-350.

Selective effect of tumor necrosis factor on transformed versus nontransformed cells: nonselective signal recognition but differential target cell response.
Schulz A, Bauer G
ANTICANCER RES. 2000;20(5):3435-3442.

Synergistic action between tumor necrosis factor-alpha and transforming growth factor type-beta: consequences for natural antitumor mechanisms.
Schulz A, Bauer G
ANTICANCER RES. 2000;20(5):3443-3448.

Letzte Aktualisierung aus dem FIS: 20.12.2024 - 23:32 Uhr