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.

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.

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:.

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):.

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):.

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C
Pelletier F, Perrier S, Cayami F, Mirchi A, Saikali S, Tran L, Ulrick N, Guerrero K, Rampakakis E, van Spaendonk R, Naidu S, Pohl D, Gibson W, Demos M, Goizet C, Tejera-Martin I, Potic A, Fogel B, Brais B, Sylvain M, Sebire G, Lourenço C, Bonkowsky J, Catsman-Berrevoets C, Pinto P, Tirupathi S, Strømme P, de Grauw T, Gieruszczak-Bialek D, Krägeloh-Mann I, Mierzewska H, Philippi H, Rankin J, Atik T, Banwell B, Benko W, Blaschek A, Bley A, Boltshauser E, Bratkovic D, Brozova K, Cimas I, Clough C, Corenblum B, Dinopoulos A, Dolan G, Faletra F, Fernandez R, Fletcher J, Garcia Garcia M, Gasparini P, Gburek-Augustat J, Gonzalez Moron D, Hamati A, Harting I, Hertzberg C, Hill A, Hobson G, Innes A, Kauffman M, Kirwin S, Kluger G, Kolditz P, Kotzaeridou U, La Piana R, Liston E, McClintock W, McEntagart M, McKenzie F, Melançon S, Misbahuddin A, Suri M, Monton F, Moutton S, Murphy R, Nickel M, Onay H, Orcesi S, Özkınay F, Patzer S, Pedro H, Pekic S, Pineda Marfa M, Pizzino A, Plecko B, Poll-The B, Popovic V, Rating D, Rioux M, Rodriguez Espinosa N, Ronan A, Ostergaard J, Rossignol E, Sanchez-Carpintero R, Schossig A, Senbil N, Sønderberg Roos L, Stevens C, Synofzik M, Sztriha L, Tibussek D, Timmann D, Tonduti D, van de Warrenburg B, Vázquez-López M, Venkateswaran S, Wasling P, Wassmer E, Webster R, Wiegand G, Yoon G, Rotteveel J, Schiffmann R, van der Knaap M, Vanderver A, Martos-Moreno G, Polychronakos C, Wolf N, Bernard G
J CLIN ENDOCR METAB. 2021;106(2):e660-e674.

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.

First Recognized Patient with Genetic Vitamin E Deficiency Stable after 36 Years of Controlled Supplement Therapy
Kohlschütter A, Finckh B, Nickel M, Bley A, Hübner C
NEURODEGENER DIS. 2020;20(1):35-38.

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.

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.

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.

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.

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.

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.

POLR3A and POLR3B Mutations in Unclassified Hypomyelination
Cayami F, La Piana R, van Spaendonk R, Nickel M, Bley A, Guerrero K, Tran L, van der Knaap M, Bernard G, Wolf N
NEUROPEDIATRICS. 2015;46(3):221-7.

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

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.

Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations
Wolf N, Vanderver A, van Spaendonk R, Schiffmann R, Brais B, Bugiani M, Sistermans E, Catsman-Berrevoets C, Kros J, Pinto P, Pohl D, Tirupathi S, Strømme P, de Grauw T, Fribourg S, Demos M, Pizzino A, Naidu S, Guerrero K, van der Knaap M, Bernard G
NEUROLOGY. 2014;83(21):1898-905.

"Pelizaeus-Merzbacher-like disease" presenting as complicated hereditary spastic paraplegia
Zittel S, Nickel M, Wolf N, Uyanik G, Gläser D, Ganos C, Gerloff C, Münchau A, Kohlschütter A
J NEUROL. 2012;259(11):2498-500.

Blickdiagnose: Gangstörung und krauses Haar
Pittner M, Kohlschütter A
Neuropäd Klin Prax. 2010;04:125.

Letzte Aktualisierung aus dem FIS: 23.12.2024 - 23:36 Uhr