PMC Articles for MedGen (Select 761704) - PMC

Valérie Delague, Corinne Bareil, Sylvie Tuffery, Patrice Bouvagnet, Eliane Chouery, Salam Koussa, Thierry Maisonobe, Jacques Loiselet, André Mégarbané, Mireille Claustres

Am J Hum Genet. 2000 Jul; 67(1): 236–243. Published online 2000 Jun 2. doi: 10.1086/302980

PMCID:: PMC1287083

Abstract Article PDF–227K

Select item 12349266.

A Second Locus for an Axonal Form of Autosomal Recessive Charcot-Marie-Tooth Disease Maps to Chromosome 19q13.3

Alejandro Leal, Bernal Morera, Gerardo Del Valle, Dieter Heuss, Corinna Kayser, Martin Berghoff, Ramón Villegas, Erick Hernández, María Méndez, Hans Christian Hennies, Bernhard Neundörfer, Ramiro Barrantes, André Reis, Bernd Rautenstrauss

Am J Hum Genet. 2001 Jan; 68(1): 269–274. Published online 2000 Dec 7. doi: 10.1086/316934

PMCID:: PMC1234926

Abstract Article PDF–201K

Select item 112514777.

Characterization of a novel TFG variant causing autosomal recessive pure hereditary spastic paraplegia

Cheng‐Tsung Hsiao, Tzu‐Yun Tsai, Ting‐Yi Shen, Yu‐Shuen Tsai, Yi‐Chu Liao, Yi‐Chung Lee, Pei‐Chien Tsai

Ann Clin Transl Neurol. 2024 Jul; 11(7): 1909–1920. Published online 2024 Jun 4. doi: 10.1002/acn3.52113

PMCID:: PMC11251477

Abstract Article PDF–1.7M

Select item 112255868.

Female Alms1-deficient mice develop echocardiographic features of adult but not infantile Alström syndrome cardiomyopathy

Eleanor J. McKay, Ineke Luijten, Sophie Broadway-Stringer, Adrian Thomson, Xiong Weng, Katya Gehmlich, Gillian A. Gray, Robert K. Semple

Dis Model Mech. 2024 Jun 1; 17(6): dmm050561. Published online 2024 Jun 28. doi: 10.1242/dmm.050561

PMCID:: PMC11225586

Abstract Article

Select item 112246049.

RTN2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity

Reza Maroofian, Payam Sarraf, Thomas J O’Brien, Mona Kamel, Arman Cakar, Nour Elkhateeb, Tracy Lau, Siddaramappa Jagdish Patil, Christopher J Record, Alejandro Horga, Miriam Essid, Laila Selim, Hanene Benrhouma, Thouraya Ben Younes, Giovanni Zifarelli, Alistair T Pagnamenta, Peter Bauer, Mukhran Khundadze, Andrea Mirecki, Sara Mahmoud Kamel, Mohamed A Elmonem, Ehsan Ghayoor Karimiani, Yalda Jamshidi, Amaka C Offiah, Alexander M Rossor, Ilhem Ben Youssef-Turki, Christian A Hübner, Pinki Munot, Mary M Reilly, André E X Brown, Sara Nagy, Henry Houlden

Brain. 2024 Jul; 147(7): 2334–2343. Published online 2024 Mar 25. doi: 10.1093/brain/awae091

PMCID:: PMC11224604

Abstract Article PDF–745K

Select item 1121161410.

Unexpected complexity in the molecular diagnosis of spastic paraplegia 11

Irene Mademont‐Soler, Susanna Esteba‐Castillo, Aida Jiménez‐Xifra, Berta Alemany, Núria Ribas‐Vidal, Maria Cutillas, Mònica Coll, Mel·lina Pinsach, Sara Pagans, Mireia Alcalde, Marina Viñas‐Jornet, Mercedes Montero‐Vale, Marta de Castro‐Miró, Jairo Rodríguez, Lluís Armengol, Xavier Queralt, María Obón

Mol Genet Genomic Med. 2024 Jun; 12(6): e2475. Published online 2024 Jun 27. doi: 10.1002/mgg3.2475

PMCID:: PMC11211614

Abstract Article PDF–2.7M

Select item 1120404411.

Compound Heterozygous Mutations of SACS in a Korean Cohort Study of Charcot-Marie-Tooth Disease Concurrent Cerebellar Ataxia and Spasticity

Byung Kwon Pi, Yeon Hak Chung, Hyun Su Kim, Soo Hyun Nam, Ah Jin Lee, Da Eun Nam, Hyung Jun Park, Sang Beom Kim, Ki Wha Chung, Byung-Ok Choi

Int J Mol Sci. 2024 Jun; 25(12): 6378. Published online 2024 Jun 9. doi: 10.3390/ijms25126378

PMCID:: PMC11204044

Abstract Article PDF–4.7M

Select item 1119496112.

A novel mutation in SORD gene associated with distal hereditary motor neuropathies

Xiaoqin Yuan, Shanshan Zhang, Huifang Shang, Yufeng Tang

BMC Med Genomics. 2024; 17: 169. Published online 2024 Jun 24. doi: 10.1186/s12920-024-01940-5

PMCID:: PMC11194961

Abstract Article PDF–2.5M

Select item 1119287913.

Identification and analyses of exonic and copy number variants in spastic paraplegia

Anum Shafique, Ayesha Nadeem, Faiza Aslam, Humera Manzoor, Muhammad Noman, Elizabeth Wohler, P. Dane Witmer, Nara Sobreira, Sadaf Naz

Sci Rep. 2024; 14: 14331. Published online 2024 Jun 21. doi: 10.1038/s41598-024-64922-8

PMCID:: PMC11192879

Abstract Article PDF–2.4M

Select item 1118095114.

Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders

Camila Armirola-Ricaurte, Noortje Zonnekein, Georgios Koutsis, Silvia Amor-Barris, Ana Lara Pelayo-Negro, Derek Atkinson, Stephanie Efthymiou, Valentina Turchetti, Argyris Dinopoulos, Antonio Garcia, Mert Karakaya, German Moris, Ayşe Ipek Polat, Uluç Yiş, Carmen Espinos, Liedewei Van de Vondel, Els De Vriendt, Georgia Karadima, Brunhilde Wirth, Michael Hanna, Henry Houlden, Jose Berciano, Albena Jordanova

Genet Med. 2024 Jun; 26(6): 101117. doi: 10.1016/j.gim.2024.101117

PMCID:: PMC11180951

Abstract Article PDF–2.1M

Select item 1113889715.

The causes of Charcot-Marie-Tooth disease

P. Young, U. Suter

Cell Mol Life Sci. 2003 Dec; 60(12): 2547–2560. doi: 10.1007/s00018-003-3133-5

PMCID:: PMC11138897

Abstract Article PDF–243K

Select item 1113672616.

Variants in mitochondrial disease genes are common causes of inherited peripheral neuropathies

Tomas Ferreira, Kiran Polavarapu, Catarina Olimpio, Ida Paramonov, Hanns Lochmüller, Rita Horvath

J Neurol. 2024; 271(6): 3546–3553. Published online 2024 Mar 28. doi: 10.1007/s00415-024-12319-y

PMCID:: PMC11136726

Abstract Article PDF–727K

Select item 1110835117.

Endocytic membrane trafficking and neurodegenerative disease

Andrea M. A. Schreij, Edward A. Fon, Peter S. McPherson

Cell Mol Life Sci. 2016 Apr; 73(8): 1529–1545. Published online 2015 Dec 31. doi: 10.1007/s00018-015-2105-x

PMCID:: PMC11108351

Abstract Article PDF–766K

Select item 1110776218.

Cytochrome P450 2U1, a very peculiar member of the human P450s family

L. Dhers, L. Ducassou, J.-L. Boucher, D. Mansuy

Cell Mol Life Sci. 2017 May; 74(10): 1859–1869. Published online 2017 Jan 12. doi: 10.1007/s00018-016-2443-3

PMCID:: PMC11107762

Abstract Article PDF–1.5M

Select item 1109164319.

Novel Genetic and Biochemical Insights into the Spectrum of NEFL-Associated Phenotypes

Adela Della Marina, Andreas Hentschel, Artur Czech, Ulrike Schara-Schmidt, Corinna Preusse, Andreas Laner, Angela Abicht, Tobias Ruck, Joachim Weis, Catherine Choueiri, Hanns Lochmüller, Heike Kölbel, Andreas Roos

J Neuromuscul Dis. 2024; 11(3): 625–645. Prepublished online 2024 Apr 3. Published online 2024 Apr 30. doi: 10.3233/JND-230230

PMCID:: PMC11091643

Abstract Article PDF–2.5M

Select item 1108444820.

SPAST Intragenic CNVs Lead to Hereditary Spastic Paraplegia via a Haploinsufficiency Mechanism

Ewelina Elert-Dobkowska, Iwona Stepniak, Wiktoria Radziwonik-Fraczyk, Amir Jahic, Christian Beetz, Anna Sulek

Int J Mol Sci. 2024 May; 25(9): 5008. Published online 2024 May 3. doi: 10.3390/ijms25095008

PMCID:: PMC11084448

Abstract Article PDF–1.2M

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